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Journal articles on the topic 'Monosomy 1p36'

Author: Grafiati

Published: 4 June 2021

Last updated: 8 February 2022

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1

Cunha, Pricila da Silva, Heloisa B. Pena, Carla Sustek D’Angelo, Celia P. Koiffmann, Jill A. Rosenfeld, Lisa G. Shaffer, Martin Stofanko, Higgor Gonçalves-Dornelas, and Sérgio Danilo Junho Pena. "Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR." Disease Markers 2014 (2014): 1–8. http://dx.doi.org/10.1155/2014/836082.

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Monosomy 1p36 is considered the most common subtelomeric deletion syndrome in humans and it accounts for 0.5–0.7% of all the cases of idiopathic intellectual disability. The molecular diagnosis is often made by microarray-based comparative genomic hybridization (aCGH), which has the drawback of being a high-cost technique. However, patients with classic monosomy 1p36 share some typical clinical characteristics that, together with its common prevalence, justify the development of a less expensive, targeted diagnostic method. In this study, we developed a simple, rapid, and inexpensive real-time quantitative PCR (qPCR) assay for targeted diagnosis of monosomy 1p36, easily accessible for low-budget laboratories in developing countries. For this, we have chosen two target genes which are deleted in the majority of patients with monosomy 1p36:PRKCZandSKI. In total, 39 patients previously diagnosed with monosomy 1p36 by aCGH, fluorescentin situhybridization (FISH), and/or multiplex ligation-dependent probe amplification (MLPA) all tested positive on our qPCR assay. By simultaneously using these two genes we have been able to detect 1p36 deletions with 100% sensitivity and 100% specificity. We conclude that qPCR ofPRKCZandSKIis a fast and accurate diagnostic test for monosomy 1p36, costing less than 10 US dollars in reagent costs.

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2

Gajecka, Marzena, Katherine L. Mackay, and Lisa G. Shaffer. "Monosomy 1p36 deletion syndrome." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 145C, no. 4 (2007): 346–56. http://dx.doi.org/10.1002/ajmg.c.30154.

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3

Hussen, Dalia F., Alaa K. Kamel, Mona K. Mekkawy, Engy A. Ashaat, and Mona O. El Ruby. "Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation." Molecular Syndromology 11, no. 5-6 (2020): 284–95. http://dx.doi.org/10.1159/000510428.

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Monosomy 1p36 syndrome is one of the most common submicroscopic deletion syndromes, which is characterized by the presence of delayed developmental milestones, intellectual disability, and clinically recognizable dysmorphic craniofacial features. The syndrome comprises 4 cytogenetic groups including pure terminal deletions, interstitial deletions, complex rearrangements, and derivative chromosomes 1 due to unbalanced translocations, where unbalanced translocations represent the least percentage of all cases of monosomy 1p36 (7%). Most patients with monosomy 1p36 due to an unbalanced translocation can be cytogenetically diagnosed using conventional techniques. However, chromosomal microarray analysis is mandatory in these cases to detect copy number variance and size of the deletion and allows for setting a phenotype-genotype correlation. Here, we studied a 1.5-year-old female patient who showed intellectual disability, delayed milestones, hypotonia, seizures, and characteristic dysmorphic features including brachycephaly, straight eyebrows, deep-set eyes, downslanting palpebral fissures, midface hypoplasia, depressed nasal bridge, long philtrum, and pointed chin. Conventional cytogenetic analysis (CCA), microarray study, and fluorescence in situ hybridization (FISH) analysis were performed. CCA showed a translocation involving chromosomes 1 and 21, 45,XX,der(1)t(1;21)(p36.32;q21.1)dn. Microarray analysis revealed copy number losses at both 1p36 and proximal 21q. FISH confirmed the presence of the 1p36 deletion, but was not performed for 21q. We have concluded that phenotype-genotype correlation for monosomy 1p36 syndrome can be performed for the fundamental clinical manifestations; however, the final aspect of the syndrome depends on composite factors. Monosomy 1p36 due to unbalanced translocation may present either classically or with additional altered features of various severity based on the copy number variations involving different chromosomes.

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4

KARAER, Kadri, Meral Y. KARAOĞUZ, and E. Ferda PERÇİN. "Monosomy 1p36 Syndrome: The First Case Report from Turkey." Turkiye Klinikleri Journal of Medical Sciences 31, no. 1 (2011): 280–84. http://dx.doi.org/10.5336/medsci.2010-18906.

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5

Zenker, M., O. Rittinger, K. P. Grosse, M. R. Speicher, J. Kraus, A. Rauch, and U. Trautmann. "Monosomy 1p36 ??? a recently delineated, clinically recognizable syndrome." Clinical Dysmorphology 11, no. 1 (January 2002): 43–48. http://dx.doi.org/10.1097/00019605-200201000-00009.

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6

Poot, Martin. "The Growing Complexity of the Monosomy 1p36 Syndrome." Molecular Syndromology 7, no. 2 (March 31, 2016): 49–50. http://dx.doi.org/10.1159/000445138.

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7

Zagalo, A., P. Dias, C. Pereira, and M. d. L. Sampaio. "Morbid obesity in a child with monosomy 1p36 syndrome." Case Reports 2012, mar20 1 (March 20, 2012): bcr0120125503. http://dx.doi.org/10.1136/bcr.01.2012.5503.

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8

Nicoulaz, A., F. Rubi, L. Lieder, R. Wolf, B. Goeggel-Simonetti, M. Steinlin, R. Wiest, et al. "Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality." American Journal of Medical Genetics Part A 155, no. 8 (July 7, 2011): 1964–68. http://dx.doi.org/10.1002/ajmg.a.33210.

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9

Heilstedt, Heidi A., Blake C. Ballif, Leslie A. Howard, Richard A. Lewis, Samuel Stal, Catherine D. Kashork, Carlos A. Bacino, Stuart K. Shapira, and Lisa G. Shaffer. "Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome." American Journal of Human Genetics 72, no. 5 (May 2003): 1200–1212. http://dx.doi.org/10.1086/375179.

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10

Puvabanditsin, Surasak, Eugene Garrow, Neisha Patel, Alexis D'Elia, Ahmed Zaafran, Nanthida Phattraprayoon, and Suzanne Elizabeth Davis. "Choroid Plexus Hyperplasia and Monosomy 1p36: Report of New Findings." Journal of Child Neurology 23, no. 8 (August 2008): 922–25. http://dx.doi.org/10.1177/0883073808314364.

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11

Verrotti, Alberto, Marco Greco, Gaia Varriale, Agnese Tamborino, Salvatore Savasta, Marco Carotenuto, Maurizio Elia, et al. "Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications." Acta Neurologica Scandinavica 138, no. 6 (August 14, 2018): 523–30. http://dx.doi.org/10.1111/ane.13006.

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12

Rudnik-Schöneborn, Sabine, Klaus Zerres, Martin Häusler, Alexandra Lott, Timo Krings, and Herdit M. Schüler. "A new case of proximal monosomy 1p36, extending the phenotype." American Journal of Medical Genetics Part A 146A, no. 15 (August 1, 2008): 2018–22. http://dx.doi.org/10.1002/ajmg.a.32405.

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13

Lissauer, D., S. A. Larkins, S. Sharif, L. MacPherson, C. Rhodes, and M. D. Kilby. "Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36." Prenatal Diagnosis 27, no. 9 (2007): 874–78. http://dx.doi.org/10.1002/pd.1796.

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14

Thienpont, Bernard, Luc Mertens, Gunnar Buyse, Joris R. Vermeesch, and Koen Devriendt. "Left-ventricular non-compaction in a patient with monosomy 1p36." European Journal of Medical Genetics 50, no. 3 (May 2007): 233–36. http://dx.doi.org/10.1016/j.ejmg.2007.01.002.

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15

Tapscott, David, and Anjali Patwardhan. "Atypical Presentation of Juvenile Rheumatoid Arthritis in a Patient with Monosomy 1p36." Annals of Paediatric Rheumatology 3, no. 1 (2014): 35. http://dx.doi.org/10.5455/apr.123020130957.

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16

Breckpot, Jeroen, Robert Hermans, Vincent Vander Poorten, Joris R. Vermeesch, and Koenraad Devriendt. "Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36." Clinical Dysmorphology 19, no. 2 (April 2010): 95–97. http://dx.doi.org/10.1097/mcd.0b013e328337589b.

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17

Shiba, Naoko, Ray AM Daza, Lisa G. Shaffer, A. Barkovich, William B. Dobyns, and Robert F. Hevner. "Neuropathology of brain and spinal malformations in a case of monosomy 1p36." Acta Neuropathologica Communications 1, no. 1 (2013): 45. http://dx.doi.org/10.1186/2051-5960-1-45.

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18

Bursztejn, Anne-Claire, Myriam Bronner, Sylviane Peudenier, Marie-José Grégoire, Philippe Jonveaux, and Christophe Nemos. "Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy." American Journal of Medical Genetics Part A 149A, no. 11 (November 2009): 2493–500. http://dx.doi.org/10.1002/ajmg.a.33051.

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19

Rodríguez, V. R., L. F. Mazzucato, and J. M. Pina-Neto. "Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype." Brazilian Journal of Medical and Biological Research 41, no. 8 (August 2008): 681–83. http://dx.doi.org/10.1590/s0100-879x2008000800007.

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20

Tan, Tiong Yang, Agnes Bankier, Howard R. Slater, Emma L. Northrop, Margaret Zacharin, and Ravi Savarirayan. "A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome." American Journal of Medical Genetics Part A 139A, no. 3 (2005): 216–20. http://dx.doi.org/10.1002/ajmg.a.31013.

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21

Cerdá-Nicolás, Miguel, Concha Lopez-Gines, Miguel Perez-Bacete, Pedro Roldan, Fernando Talamantes, and José Barberá. "Histologically benign metastatic meningioma: morphological and cytogenetic study." Journal of Neurosurgery 98, no. 1 (January 2003): 194–98. http://dx.doi.org/10.3171/jns.2003.98.1.0194.

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✓ The authors report on a 75-year-old man with histologically benign fibroblastic meningioma metastasizing to the lung, liver, spleen, and kidney. The original tumor exhibited a complex karyotype involving different structural and numerical anomalies associated with monosomy of chromosome 22. The implication of chromosome 1p36 was confirmed by fluorescence in situ hybridization in most interphase nuclei. Metastases occurred 4 months after incomplete resection with prior therapeutic embolization. The recurrent tumor in turn displayed anaplastic features and an increased Ki-67 labeling index. Genetic alterations in such morphologically benign meningiomas have been implicated in the malignant development and progression of these tumors.

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22

Thangavelu, Maya, William G. Finn, Krishna K. Yelavarthi, Henry H. Roenigk, Ellen Samuelson, LoAnn Peterson, Timothy M. Kuzel, and Steven T. Rosen. "Recurring Structural Chromosome Abnormalities in Peripheral Blood Lymphocytes of Patients With Mycosis Fungoides/Sézary Syndrome." Blood 89, no. 9 (May 1, 1997): 3371–77. http://dx.doi.org/10.1182/blood.v89.9.3371.

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Abstract Cytogenetic analysis was performed on peripheral blood lymphocyte cultures from 19 patients with mycosis fungoides (MF )/Sézary syndrome (SS) stimulated with either phytohemagglutinin, a conventional mitogen, or a combination of interleukin-2 (IL-2) plus IL-7. The use of both PHA-stimulated and IL-2 plus IL-7–stimulated cultures enhanced the ability to identify clonal abnormalities. Clonal abnormalities were observed in 11 patients (53%) including one with monosomy for the sex chromosome as the sole abnormality. Five of the 11 patients with clonal abnormalities had normal peripheral white blood cell counts, indicating detectability of clones in the absence of frankly leukemic disease. The presence of clonal abnormalities correlated with advanced stage disease and a significantly reduced survival duration from the time of cytogenetic studies. Clonal abnormalities involving chromosomes 1 and 8 were observed in six cases. In five cases with aberrations of chromosome 1, loss of material involved the region between 1p22 and 1p36. In an additional case, a reciprocal translocation involving 1p33 was observed. Clonal abnormalities involving chromosomes 10 and 17 were observed in 5 cases, clonal abnormalities involving chromosome 2 in 4 cases, and clonal abnormalities involving chromosomes 4, 5, 6, 9, 13, 15, 19, and 20 in 3 cases. In 2 cases a der(8)t(8; 17)(p11; q11) was observed. Regions of the genome that encode T-cell receptors were not involved in abnormalities. The region between 1p22 and 1p36 is identified as a region of the genome that requires detailed analysis toward the identification of potential gene(s) involved in the process of malignant transformation and/or progression in MF/SS.

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23

Rankin, Julia, Alex Allwood, Natalie Canham, Catherine Delmege, John Crolla, and Viv Maloney. "Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion." Clinical Dysmorphology 18, no. 4 (October 2009): 222–24. http://dx.doi.org/10.1097/mcd.0b013e32832d0717.

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24

Suhoski, M. M., E. E. Perez, M. L. Heltzer, A. Laney, L. G. Shaffer, S. Saitta, S. Nachman, N. B. Spinner, C. H. June, and J. S. Orange. "Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells." Clinical Immunology 128, no. 2 (August 2008): 181–89. http://dx.doi.org/10.1016/j.clim.2008.03.522.

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25

Mazurak, Magdalena, Jacek Kusa, Paweł Skiba, and Robert Śmigiel. "Large patent ductus arteriosus and left ventricular non-compaction as cardiac manifestations of 1p36 monosomy." Pediatria Polska 92, no. 3 (May 2017): 321–24. http://dx.doi.org/10.1016/j.pepo.2017.01.008.

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26

Campeau, Philippe M., Nicholas Ah Mew, Lola Cartier, Katherine L. Mackay, Lisa G. Shaffer, Vazken M. Der Kaloustian, and Mary Ann Thomas. "Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature." American Journal of Medical Genetics Part A 146A, no. 23 (December 1, 2008): 3062–69. http://dx.doi.org/10.1002/ajmg.a.32563.

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27

D'Angelo, Carla S., Ilana Kohl, Monica Castro Varela, Cláudia I. E. de Castro, Chong A. Kim, Débora R. Bertola, Charles M. Lourenço, and Célia P. Koiffmann. "Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia." American Journal of Medical Genetics Part A 152A, no. 1 (December 23, 2009): 102–10. http://dx.doi.org/10.1002/ajmg.a.33160.

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28

Rosenfeld, Jill A., John A. Crolla, Susan Tomkins, Patricia Bader, Bernice Morrow, Jerome Gorski, Robin Troxell, et al. "Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions." American Journal of Medical Genetics Part A 152A, no. 8 (July 15, 2010): 1951–59. http://dx.doi.org/10.1002/ajmg.a.33516.

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29

Ballif, B. C. "Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions." Human Molecular Genetics 12, no. 17 (July 8, 2003): 2153–65. http://dx.doi.org/10.1093/hmg/ddg231.

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30

Õiglane-Shlik, Eve, Sanna Puusepp, Inga Talvik, Ulvi Vaher, Reet Rein, Pille Tammur, Tiia Reimand, et al. "Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities." European Journal of Paediatric Neurology 18, no. 3 (May 2014): 338–46. http://dx.doi.org/10.1016/j.ejpn.2014.01.008.

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31

Ballif, Blake C., Marzena Gajecka, and Lisa G. Shaffer. "Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions." Chromosome Research 12, no. 2 (2004): 133–41. http://dx.doi.org/10.1023/b:chro.0000013165.88969.10.

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32

Basaran, Seher, Recep Has, Ibrahim Halil Kalelioglu, Birsen Karaman, Melike Kirgiz, Tahir Dehgan, Bilge Nihan Satkin, Tugba Sarac Sivrikoz, and Atil Yuksel. "Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings." Ultraschall in der Medizin - European Journal of Ultrasound 41, no. 02 (September 25, 2018): 175–85. http://dx.doi.org/10.1055/a-0651-0459.

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Abstract Purpose To determine the true- and false-positive rates of cf-DNA testing in a cohort of patients from tertiary care centers and assess the impact of ultrasound examinations in pregnancy management. Materials and Methods Clinical, cytogenetic and ultrasound data of 101 consecutive fetuses were collected retrospectively. Cases were classified into five groups according to the ultrasound findings. Karyotyping, interphase FISH and microarray techniques were used for follow-up studies. Results The overall false-positive rate was low for trisomy 21 (T21, 8.2 %), but significantly higher for trisomy 18 (T18, 40 %), monosomy X (MX, 50 %), X/Y trisomies (57.1 %), trisomy 13 (T13, 71.4 %). While single cases of trisomy 16, trisomy 22 and 8q duplication positive in cf-DNA were confirmed, 3 microdeletions (1p36 and two 22q11.2) were not. About 75 % of confirmed T21’s and all confirmed T18 and T13 had major markers and/or malformations. While false-negative cases (two T21, one T18 and one T13) were identified due to abnormal ultrasound findings, all false-positive cases were normal sonographically. Ultrasound findings of confirmed trisomy 16, 22, dup8q, monosomy X and other X/Y aneuploidies were unspecific. Term placenta studies were helpful to assess the role of confined mosaicism in unconfirmed cf-DNA test results. A vanishing twin has been observed as the likely cause of one false-positive T18. Conclusion Our study contributes clinical data on discrepant cf-DNA testing results, corroborates the need for confirmational invasive testing and underscores the benefit of expert ultrasound in the prevention of fatal diagnostic errors.

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33

Torisu, Hiroyuki, Toshiyuki Yamamoto, Takehisa Fujiwaki, Mitsutaka Kadota, Mitsuo Oshimura, Kenji Kurosawa, Shinjiro Akaboshi, and Akira Oka. "Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1)." American Journal of Medical Genetics 131A, no. 1 (November 15, 2004): 94–98. http://dx.doi.org/10.1002/ajmg.a.30413.

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34

Perkowski, J. J., and G. G. Murphy. "Deletion of the Mouse Homolog of KCNAB2, a Gene Linked to Monosomy 1p36, Results in Associative Memory Impairments and Amygdala Hyperexcitability." Journal of Neuroscience 31, no. 1 (January 5, 2011): 46–54. http://dx.doi.org/10.1523/jneurosci.2634-10.2011.

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35

Alkalay, Avishai, Melanie Babcock, Anna Bergsmedh, Dennis Monks, Mary E. King, Lisa Shaffer, and Bernice Morrow. "709: Gene expression profiling of lymphoblastic cell lines from monosomy 1p36 patients reveals differential regulation (expression) of cardiac and neurologic relevant genes." American Journal of Obstetrics and Gynecology 201, no. 6 (December 2009): S257. http://dx.doi.org/10.1016/j.ajog.2009.10.726.

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36

Wang, B. T., and M. Chen. "Redundant skin over the nape in a girl with monosomy 1p36 caused by a de-novo satellited derivative chromosome: a possible new feature?" Clinical Dysmorphology 13, no. 2 (April 2004): 107–9. http://dx.doi.org/10.1097/00019605-200404000-00011.

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37

Maillo, Angel, Alberto Orfao, Ana B. Espinosa, José María Sayagués, Marta Merino, Pablo Sousa, Monica Lara, and María Dolores Tabernero. "Early recurrences in histologically benign/grade I meningiomas are associated with large tumors and coexistence of monosomy 14 and del(1p36) in the ancestral tumor cell clone." Neuro-Oncology 9, no. 4 (October 1, 2007): 438–46. http://dx.doi.org/10.1215/15228517-2007-026.

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38

Ballif, Blake C., Keiko Wakui, Marzena Gajecka, and Lisa G. Shaffer. "Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements." Human Genetics 114, no. 2 (January 1, 2004): 198–206. http://dx.doi.org/10.1007/s00439-003-1029-y.

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39

Wong, Jasmine C., Yan Zhang, Marie T. Tran, Kenneth H. Lieuw, Linda Wolff, Nigel Killeen, and Kevin Shannon. "Use of Chromosome Engineering To Model a Leukemia-Associated 7q22 Deletion in the Mouse." Blood 110, no. 11 (November 16, 2007): 2654. http://dx.doi.org/10.1182/blood.v110.11.2654.2654.

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Abstract Identifying tumor suppressor genes from intervals that are deleted in human hematologic malignancies such as 5q, 7q, 9q, and 20q has proven extremely challenging, and several laboratories have implicated haploinsufficiency as a likely mechanism. Chromosome engineering, which involves performing sequential rounds of gene targeting to insert loxP sites at flanking loci in mouse embryonic stem (ES) cells and using Cre recombination to delete the intervening sequences, was recently used to successfully interrogate the 1p36 interval in human solid tumors (Cell128(3):459–75, 2007). Monosomy 7 and deletion 7q [del(7q)] are among the most common cytogenetic alterations found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Cytogenetic analysis of patients who developed myeloid disorders with del(7q) uncovered a 2.5 Mb commonly deleted segment (CDS) within 7q22 (Blood88(6):1930–5, 1996), suggesting that this region plays an important role in leukemogenesis. To investigate the in vivo consequences of somatic loss of this interval, we generated a 5A3flox mouse model that harbor loxP sites flanking a ∼2 Mb interval on mouse chromosome 5A3 that is syntenic to the human 7q22 CDS. We intercrossed these mice with the interferon inducible Mx1-Cre transgenic strain, and injected these mice with polyinosinic-polycytidylic acid (pIpC) to delete the region in the hematopoietic compartment. The desired recombination is relatively inefficient; however, hematopoietic cells with loss of this region persist in the stem/progenitor compartment for over 1 year and are transplantable. We neither observed a block in differentiation nor clonal outgrowth of mutant hematopoietic cells, suggesting that additional mutations are necessary to initiate leukemia. We initiated AML in these mice by introducing additional genetic lesions using retroviral insertional mutagenesis, and we are characterizing these leukemias to study the effects of the 5A3 deletion on leukemogenesis and to clone cooperating genes. Chromosome engineering is a robust strategy for modeling leukemia-associated deletions in vivo, and for interrogating how loss of a specific interval alters hematopoietic growth. We are using the 5A3 strain to analyze candidate myeloid tumor suppressor genes from chromosome 7q and to uncover genes and pathways that cooperate in leukemogenesis.

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40

Bello, Sabina, and Antonio Rodríguez-Moreno. "Una revisión actualizada del síndrome de deleción (monosomía) 1p36." Revista Chilena de Pediatría 87, no. 5 (September 2016): 411–21. http://dx.doi.org/10.1016/j.rchipe.2015.12.004.

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41

O’Keefe, Christine L., Evan Howe, Matt E. Kalaycio, Mikkael Sekeres, Anjali Advani, and Jaroslaw P. Maciejewski. "High-Resolution Genomic Scan for Cryptic Chromosomal Lesions in MDS and AML." Blood 104, no. 11 (November 16, 2004): 3427. http://dx.doi.org/10.1182/blood.v104.11.3427.3427.

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Abstract Cytogenetic analysis is of eminent importance for the diagnosis and prognosis of hematologic malignancies. Due to limitations of traditional karyotyping, novel technologies which improve resolution and sensitivity are under development. In array-based comparative genomic hybridization (A-CGH), differentially labeled test and reference DNA samples are hybridized to genomic microarrays. Differences in sequence copy number between the samples are reflected in a shift of the fluorescent intensity. The resolution of A-CGH is limited solely by the number of clones; it is theoretically possible to achieve linear coverage of the chromosomes. The principle of the CGH techniques allows for detection of unbalanced chromosomal changes of the whole genome. These types of genomic aberrations are most common in MDS, but may exist and further subclassify malignancies with defined balanced translocations. In MDS, depending on the study, 40–60% of patients have a normal or non-informative karyotype by traditional methods. It is likely that this number may be reduced if the resolution and sensitivity level is increased. Additionally, diagnosis of patients with known chromosomal abnormalities can be further refined. We first applied A-CGH to the analysis of normal marrow (N=8) to establish whether it will detect chromosomal defects that may acquired and are compatible with normal hematopoiesis. Moreover, defects may be present in healthy elderly. We utilized arrays of up to 2621 clones with a maxium coverage of 1Mb (Vysis, Spectral Genomics). The results were verified by a dye-swap protocol on two arrays per sample. Four controls showed a normal array profile or only changes in clones previously identified as having a polymorphic copy number within the human genome. The remaining controls had changes including a loss of material on 6p (N=1), loss of 6p and 8q material (N=1) and a gain of 4p and loss of 9p sequences (N=1). These changes may reflect unidentified polymorphisms. In contrast, one control had gains of multiple contiguous clones on chromosomes 9, 15 and 22. We also studied the marrow of patients with advanced MDS (N=43) using A-CGH and traditional cytogenetics. The cohort included patients with known singular lesions (N=7) and complex karyotypes (N=1). The remaining patients had either normal or non-informative cytogenetics. For a del 5q patient and a trisomy 21 patient, A-CGH verified the karyotype without identifying further lesions, in a second del 5q patient was a gain of material on 19p, and a monosomy X patient had a gain of 1p36 by CGH. In 3 cases with partially clonal defects, A-CGH did not detect the abnormality. A normal genomic composition was confirmed in a patient with noninformative (N=1) and normal (N=1) karyotypes. Losses of material on 2q and 3q and gains of material on 22q and the 11p telomeric region were identified in a patient with normal cytogenetics, while another "normal" had gains on 2p, 14q and 21q. Additionally, one normal karyotype had loss of chromosome 16 material and one had loss of 6p sequences. This pilot study demonstrates the utility of A-CGH analysis to study chromosomal aberrations in MDS. A-CGH allows for the detection of cytogenetically undetected abnormalities. Analysis of a large number of samples may allow for the detection of consensus defects or global genomic instability with clinical implications.

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Receveur, A., M. Mathieu, C. Quibel, D. Warin, and H. Copin. "Monosomie 1p36 par transmission déséquilibrée d’une translocation parentale incriminant les bras courts d’un chromosome acrocentrique." Morphologie 91, no. 293 (July 2007): 115–16. http://dx.doi.org/10.1016/j.morpho.2007.09.084.

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Puigdecanet, Eulalia, Blanca Espinet, Olaya Villa, Lurdes Zamora, Carles Besses, Beatriz Bellosillo, Marta Salido, et al. "Absence of Cytogenetic Abnormalities of PRV-1, TPO and C-MPL Genes Detected by Fluorescence In Situ Hybridization in Essential Thrombocythemia." Blood 104, no. 11 (November 16, 2004): 4746. http://dx.doi.org/10.1182/blood.v104.11.4746.4746.

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Abstract Introduction. Essential thrombocythemia (ET) is a chronic myeloproliferative disorder (CMPD) with heterogeneous features and no specific diagnostic markers. Consequently, its diagnosis is based on exclusion of other CMPD and secondary thrombocytosis. The role of PRV-1 (Polycythemia rubra vera-1), TPO (Thrombopoietin) and c-Mpl (Myeloproliferative leukemia virus oncogene) in ET pathogenesis has been studied in order to find new molecular targets which would help in ET diagnosis. PRV-1 gene is overexpressed in granulocytes from polycythemia vera (PV) and in some ET patients. TPO serum levels are not diagnostically useful and c-Mpl expression in megakaryocytes and platelets are generally decreased in ET. Mutations in TPO and c-MPL genes have been detected in familial thrombocythemia, but not in patients with acquired ET. The aim of the present study was to analyse PRV-1, TPO and c-MPL genes status by fluorescence in situ hybridization (FISH) technique in order to find new molecular markers in ET patients. Patients and Methods. Thirty bone marrow samples of ET patients (7M/23F) diagnozed by PVSG criteria with a normal karyotype and 10 bone marrow samples of normal healthy donors were included in the study. All samples were studied by three locus-specific probes for PRV-1, TPO and c-MPL genes as follows: 1. PRV-1 gene (BAC RP11-160A19, 157 Kb, located at 19q13.12-2) labeled in red cohybridized with the 19p telomeric probe (D19S238E, Vysis) labeled in green. 2. TPO gene (BAC RP11-45NP16, 183 Kb, located at 3q27) labeled in green cohybridized with the centromeric probe for chromosome 3 (D3Z1, Vysis) labeled in red. 3. c-MPL gene (BAC RP11-297L5, 190 Kb, located at 1p34) labeled in green cohybridized with the centromeric probe for chromosome 1 (D1Z5, Vysis) labeled in orange. A minimum of 100 interphase nuclei were analyzed. Results. FISH study showed no PRV-1, TPO and c-MPL cytogenetic abnormalities in any of the analyzed cases, except for one patient in which 21% of interphase nuclei presented a trisomy for the TPO gene region. The monosomy and trisomy thresholds were 6.1% and 4.7% for PRV-1, 4.9% and 3.4% for TPO, and 5.4% and 3.71% for c-MPL, respectively. Conclusions. Our results suggest a lack of structural and numerical rearrangements of PRV-1, TPO and c-MPL genes in ET patients. The PRV-1 gene FISH results are in line with the previously reported by Najfeld et al (Exp Hematol2003;31:118–21); regarding TPO and c-MPL results, this is the first FISH study reported in the literature in ET.

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Johansson, B., F. Mertens, and F. Mitelman. "Cytogenetic evolution patterns in non-Hodgkin's lymphoma." Blood 86, no. 10 (November 15, 1995): 3905–14. http://dx.doi.org/10.1182/blood.v86.10.3905.bloodjournal86103905.

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Secondary chromosomal aberrations were surveyed in non-Hodgkin's lymphomas (NHL) reported in the literature with one of the following, presently recognized, primary abnormalities: t(2;5), +3, t(3;14), del(6q), +X, and -Y. Of 2,175 NHLs with clonal karyotypic changes, 908 (42%) had one of the 13 selected primary chromosome rearrangements, and 670 (74%) of these lymphomas displayed additional abnormalities. The type and frequency of the secondary aberrations were ascertained and then correlated with both the type of primary abnormality and morphologic subtype; low-, intermediate, and high-grade according to the Working Formulation. The incidence of secondary aberrations differed not only among the primary abnormality subgroups, from 0% in del(11q) NHLs to 93% in t(3;14) lymphomas (P < .001) but also between B- and T-cell NHLs (78% versus 55%, P< .001) and among the different histologic subgroups: 66% in low-, 85% in intermediate-, and 71% in high-grade lymphomas (P < .001). The mean number of secondary changes per case also varied among the primary abnormalities, from none in del(11q) NHLs to 12.0 in inv(14) lymphomas (P < .001), and among the morphologic subtypes: 4.6 in low-, 6.7 in intermediate-, and 3.6 in high-grade NHL (P < .001). Recurrent secondary aberrations were found in 6 of the 13 primary abnormality subgroups: t(2;5), t(3;14), t(8;14), t(11;14), inv(14), and t(14;18). The most frequent secondary aberrations were +X, -Y, dup(1q), del(6q) varied both within and among the primary abnormalities; the most frequent imbalances were a gain of 1q23–31 and losses of 6q21, 6q23, and 6q25. Other common imbalances were deletions of 1p31–36, 1q31–44, 2q34–37, 7q35–36, 9p22–24, 11q23– 25, 13q13–21, and duplication of 12q13–22. The distribution of the secondary changes was clearly nonrandom with the most common anomalies being -Y and +7 in t(2;5); +X, del(6q), and +7 in t(3;14); dup(1q) and +7 in t(8;14); -Y, del(6q), and -13 in t(11;14); del(6q), -17, and -18 in inv(14); and del(6q), +7, and +12 in t(14;18) NHLs. In general, the secondary aberrations were similar in lymphomas of different histologic subtypes but with the same primary abnormality, although some significant differences were discerned: +3, del(6q), +7, and +18 wee more common (P < .01) in intermediate-grade than in high-grade t(8;14) NHLs; monosomy 13 occurred only in intermediate-grade t(11;14) NHLs (P < .05); and +7 and t(8;14)/t(8;22) were more frequent (P < .01 and P< .001, respectively) in high-grade than in low- and intermediate-grade t(14;18) NHLs.(ABSTRACT TRUNCATED AT 400 WORDS)

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Lafage-Pochitaloff, Marina, Laurence Baranger, Mathilde Hunault, Wendy Cuccuini, Audrey Bidet, Nicole Dastugue, Isabelle Tigaud, et al. "Value of Cytogenetic Abnormalities in Adult Patients with Philadelphia Chromosome (Ph)-Negative Acute Lymphoblastic Leukemia (ALL) Treated in the Pediatric-Inspired Trials from the Group for Research on Adult ALL (GRAALL)." Blood 124, no. 21 (December 6, 2014): 492. http://dx.doi.org/10.1182/blood.v124.21.492.492.

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Abstract Background: Numerous recurrent chromosomal abnormalities have been described in adult Ph-negative ALL, often observed in small patient cohorts. In the largest MRC/ECOG study (Moorman, Blood 2007), t(4;11)(q21;q23), 14q32 involvement, complex karyotype (≥5 abnormalities), and low hypodiploidy/near triploidy (Ho-Tr) were associated with shorter event-free survival (EFS), while patients with high hyperdiploidy or del(9p) had a better outcome. We aimed to confirm these observations in 955 adult patients (15-60y; median, 35y) with Ph-negative ALL treated in the pediatric-inspired GRAALL-2003/2005 trials. Patients and Methods: Overall, a karyotype was performed for 946 (611 BCP-ALL, and 335 T-ALL), successful for 811 (523 BCP-ALL and 288 T-ALL) and abnormal in 590 patients (387 BCP-ALL and 203 T-ALL). FISH and/or PCR screening for relevant abnormalities and DNA index were also performed, finally allowing for the identification of cytogenetic abnormalities in 677/955 patients (71%). All were centrally reviewed. Ultimately, 857/955 patients (90%; 542 BCP-ALL and 315 T-ALL) could be classified in 18 exclusive primary cytogenetic subsets as detailed below. Endpoints were cumulative incidence of failure (CIF, including primary refractoriness and relapse) and EFS. With a median follow-up of 4 years, 5-year CIF and EFS were estimated in these patients at 31% and 51%, respectively. As some abnormalities, including MLL rearrangements, Ho/Tr, t(1;19)(q23;p13)/TCF3 and complex karyotypes were used to stratify allogeneic stem cell transplantation (SCT) in GRAALL trials, some comparisons were repeated after censoring patients transplanted in first CR at SCT time. Results: The 542 informative BCP-ALL patients were classified as: t(4;11)(q21;q23)/MLL-AFF1 (n=72; 13%); other MLL+ 11q23 abnormalities (n=11; 2%); t(1;19)(q23;p13)/TCF3-PBX1 (#28; 5%); Ho/Tr (n=33; 6%); high hyperdiploidy (n=36; 7%); abnormal 14q32/IGH translocation (n=27; 5%); t(12;21)(p13;q22)/ETV6-RUNX1 (n=2; 0.4%); iAMP21 (n=3; 0.6%); other abnormalities (n=210; 39%); and no abnormality (n=120; 22%). The 315 informative T-ALL patients were classified as: t(10;14)(q24;q11)/TLX1 (n=64; 20%); other 14q11 or 7q34/TCR (n=31; 10%); t(5;14)(q35;q32)/TLX3 (n=29; 9%); t(10;11)(p12;q14)/PICALM-MLLT10 (n=14; 4%); deletion 1p32/SIL-TAL (n=18; 6%); MLL+ 11q23 abnormalities (n=6; 2%); other abnormalities (n=93; 30%); and no abnormalities (n=60; 19%). A complex karyotype was observed in 27/527 (5%) BCP-ALL and 21/298 (7%) T-ALL patients and a monosomal karyotype (as per Breems, JCO 2008) in 82/518 (16%) BCP-ALL and 26/286 (9%) T-ALL patients. In BCP-ALL, trends towards higher CIF and shorter EFS were observed in t(4;11) patients, with or without SCT censoring (HRs, 1.34 to 1.64; p values <0.10). Shorter EFS was observed in 3 subsets: 14q32 (HR, 2.10; p=0.002), Ho/Tr (HR, 1.45; p=0.10), and monosomal karyotype (HR, 1.42; p=0.029), but CIF were not different. This might be related to the older age of patients in these subsets (medians, 43y, 53y and 44y; p=0.029, <0.001 and <0.001, respectively) and worse treatment tolerance. For instance, higher incidences of non ALL-related deaths were observed in patients with 14q32 abnormalities or monosomal karyotype (p=0.031 and 0.067, respectively). Patients with high hyperdiploidy only tended to have lower CIF and longer EFS. Complex karyotype did not impact CIF and EFS, even after SCT censoring. Conversely, in T-ALL, complex karyotypes were associated with shorter EFS (HR, 2.20; p=0.004), even if the difference in CIF did not reach significance. A worse outcome was also observed in patients with t(10;11)(p12;q14)/PICALM-MLLT10 (HR, 2.45 and 2.14; p=0.016 and 0.021, for CIF and EFS respectively). A longer EFS was observed in patients with t(10;14)(q24;q11)/TLX1 (HR, 0.55; p=0.014), with a trend for lower CIF (HR, 0.59; p=0.070), while no inferior outcome was observed in t(5;14)(q35;q32)/TLX3 patients. Conclusion: These results show that, in the context of an intensified pediatric-inspired protocol designed for adult Ph-negative ALL patients, few cytogenetic subsets remained reliably predictive of response to therapy. Differences observed in EFS might partly be due to treatment-related mortality. Combining cytogenetics, molecular genetics and minimal residual disease monitoring could allow for better individual risk assessment (Beldjord, Blood 2014). Disclosures No relevant conflicts of interest to declare.

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Luño, Elisa, Carmen Sanzo, Fermin Jonte, Regina LLorente, Emilia Fanjul, Soledad Gonzalez, and Araceli Martínez. "ABL1 Gene Amplification and Aberration Involving HOX11L2/TLX3 in T-Acute Lymphoblastic Leukemia (T-ALL)." Blood 108, no. 11 (November 16, 2006): 4443. http://dx.doi.org/10.1182/blood.v108.11.4443.4443.

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Abstract Background and objective: T-ALL accounts for approximately 15% of childhood ALL and 25% adult ALL. Cytogenetic abnormalities are less frequently detect in T than B-ALL. The most frequent genetic alterations include 7q32, 14q11 or 1p32 (TAL1) rearrangements, and deletions 6q, 9p, 5q, 11q, 12p, 7q,and 13q. Novel cryptic translocation was described: t(5;14) involving HOX11L2 gen. ABL1 amplification has been detected in 5% T-ALL carry a cryptic NUP214-ABL1 fusion. In our study conventional cytogenetic analysis were complemented by fluorescence in situ hybridization (FISH) to improve detection chromosomal abnormalities in T-ALL. Split-signal dual color TLX3, SIL-TAL, MLL probes and LSI BCR/ABL extra signal dual color were used. Results: 108 patients with ALL, 17 (15,7%) of these patients had T-ALL.13 (76,5%) males and four females. Median age was 19 years (3–55 years) and seven (41,2%) were < 15 years. FAB subtypes:13 ALL1 and 4 ALL2. One patient was classified as showing stage thymocyte development, five were classified as stage II and seven as stage III. 5/17 (29,4%) co-expressed myeloid markers (CD13 or CD33). Median hemoglobin was 101 g/L, leukocytes 80,9×109/L, platelets 80×109/L, blood blasts 90%, bone marrow blasts 95%, LDH 1008,5 UL (8/17 had >1000 UL, normal value <460 UL). Eight patients (47,5%) had leukocytosis >50×109/L and 10/17 (58,8%) presented marked hepato-splenomegaly and lymphadenopathy. One patient presented SNC infiltration. 13/17 (76,4%) had a successful cytogenetic study and seven of these (53,8%) with clonal chromosomal abnormalities: two del (12p), one del (9p), one del (7q) (deletion 11q associated), one t(11;14), one monosomy 21 and one hiperdiploid karyotype (>50 chromosomes). FISH analysis was preformed in 12 cases. None aberration involving TAL1 gene have been detect. MLL rearrangement was detect in the patient del(7q) and del (11q) associated. Other patient presented aberration involving HOX11L2/TLX3 and ABL amplification (>20 ABL signals and two BCR signals) with poor quality of metaphases. This patient was a male 4 years old, diagnosed T-ALL1 (stage III Egil).He had hepato-esplenomegaly, mediastinal mass, the most leukocyte count (492×109/L) and high LDH (4553 UL). The blasts expressed CD45, CD4, CD7, CD2, CD5, CD4, CD8, CD10, CD1, CD38 and cCD3. He received treatment with Pethema ALL-96 intermediate risk protocol and bone marrow study on day 14 didn’t present blast, he achieved complete remission on day 35 (EMR <0.01 and cytogenetic remission) and he is alive (follow-up 1,6 months). In this serie, all patients received treatment with chemotherapy risk adapted protocol, 16/17 achieved complete remission but 9/16(52,9%) relapsed (with normal karyotype 33,3%; with abnormal karyotype 75%) Median overall and disease free survival was 28.5 and 86,6 months respectively (probability of relapse 45,7% at 3 years). ABL amplification is a rare event in T-ALL (5,8% in this series). Our case present translocation HOX11l2/TLX3 asociated. The expression of CD1,CD10, and CD3 is more frequent in patient with translocation or expression HOX11L2 gene as our patient.

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Nacheva, Elisabeth, Diana Brazma, and Colin Grace. "The Genetic Profile of CML- New Revelations with Matrix CGH." Blood 104, no. 11 (November 16, 2004): 2947. http://dx.doi.org/10.1182/blood.v104.11.2947.2947.

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Abstract Samples from 20 CML patients and 12 CML derived cell lines were studied by matrix comparative genomic hybridization (CGH) using 1Mbp BAC micro-arrays with increased density at the telomere regions (Spectral Genomics, Houston). The micro-arrays reproducibly delineated previously characterised gains and losses (Gribble et al., 1999 & 2003). Novel non random imbalances, gains and losses were revealed to affect either single loci or short regions summarised as follows: i) Cryptic deletions The cryptic deletions affected either a single BAC clone or a group of several consecutive clones. These losses were seen in chromosome areas with either normal banding or within regions of apparently balanced translocations. These include the BAC clone RP11-259N12 in the short arm of chromosome 1, found as a single BAC loss or as part of a small segment in 1p35 sub-band. Other examples include deletions of up to five consecutive BAC clones within the 9p21 region known to contain tumour suppressor genes, deletions within 14q11.2, 16p13.1 and 20q11.2/12 regions. ii) Cryptic gain Gain of extra copy of the BAC clone RP11-130P22 was in patients samples, which did not appear to have abnormalities of the short of chromosome 2; similarly additional copy of the RP11-96F19 clone were detected in 4 patients and 3 cells lines without evidence for aberrations of 12q24 region. Other examples of cryptic gains include regions of 16p11.2, 19p13.1 and 19q13. iii) High level amplification Array analysis successfully refined common amplicons within regions of known high level amplifications from the regions of 9q34.1, 22q11.2, and 8q24.13. In the 8q region three separate common amplicons were identified, all of which do not include the cMyc oncogene. iv) Single locus nullisomy Heterozygous deletions were found to affect a single locus located within a large chromosome segment present in only one copy. There are two such examples - (i) lack of the RP11-87O1 clone in the cell line K562, where the whole of the short arm of chromosome 9 is present in one copy only and (ii) deletion of both copies of the RP11-79J17 clone seen in the cell like KYO-1, where the short arm of chromosome 6 is monosomic. v) Deletions of regions as large as 5Mbp adjacent to the chromosome telomeres These were revealed by the loss of more than one BAC probe and estimated to range in size from 1 to 5 Mbp. The para-telomeric deletions frequently affected the short arms of chromosomes 4 and 12 as well as the long arm of chromosome 3. vi) Low level imbalances Low levels of gain or loss, indicated by ratio values more than 0.5 or less than 1.5, for large regions, spanning several chromosome bands, were seen throughout the whole chromosome complement. Most frequently involved areas include the 14q22-qter, 15q22-qter, 20p12-p12 ter as well as 20q12-qter, 19p13.1-c-q13.3 and 10p12-pter. These reflect genetic aberrations in cell clones presented at low levels (20–30%). vii) Deletions flanking translocation breakpoints Deletion of single BAC clone covering sequences upstream of the ABL gene was found in the cell line MC3 and 3 patients. The loss of this region on der(9)t(9;22) is well characterised and we have known by FISH that it extends 3 Mbp from ABL exon 1a in MC3 cells (Reid et al., 2003). The micro-arrays faithfully reproduced the mapping data and allowed us to size the deletions in the der(9) chromosome in the patients samples. This demonstrates the ability of the array CGH to detect cryptic deletions accompanying balanced translocations.

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Muddasani, Ramya, Albert Ho, Meredith Akerman, Shahidul Islam, Mitchel Polak, Jamie Andres Suarez-Londono, and Marc Braunstein. "Association between Immunoglobulin Isotypes and Cytogenetic Risk Groups in Multiple Myeloma." Blood 132, Supplement 1 (November 29, 2018): 5585. http://dx.doi.org/10.1182/blood-2018-99-118831.

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Abstract Introduction: Cytogenetic abnormalities (CAs) in multiple myeloma (MM) have prognostic significance and predict the risk of clonal evolution, disease progression, and response to treatment. The Revised International Scoring System (R-ISS) was recently updated to incorporate high risk CAs, including del(17p), t(14:16), and t(14:20), the presence of which confer a poorer prognosis. Prior studies have demonstrated the prognostic value of specific CAs and MM immunoglobulin isotypes, for example, non-IgG isotypes having been associated with poorer prognosis. However, data showing a link between cytogenetic risk groups and MM isotypes are limited. Thus, we determined whether a relationship exists between higher-risk CAs and MM isotypes, as well as the degree of malignant plasma cell infiltration of the bone marrow (BM). Methods: We performed a retrospective analysis of a multi-institutional commercial pathology repository of 442 MM patients identified according to the International Myeloma Working Group criteria that included assessment of BM infiltration (BM%), MM isotype, CA, and cytogenetic risk group. The study protocol was approved in accordance with IRB standards. As per the R-ISS, the high risk CAs included del(17p), t(14:16), and t(14:20), intermediate risk CAs included t(4;14), del(13q), dup(1q), and hypodiploidy, and standard risk CAs included t(6;14), t(11;14), and hyperdiploidy. Patients with CAs that included more than one risk group were considered to be in the higher risk category. Associations between categorical variables were made using the chi-squared test or Fisher's exact test. The Mann-Whitney test was used to compare groups (MM isoytpe, CAs, or cytogenetic risk group). Statistical significance was considered at p<0.05. Analyses were performed using SAS version 9.4 (SAS Institute Inc., Cary, NC). Results: Among the 442 MM patients, isotype groups included 42% IgG, 16% IgA and 42% light chain-only (LCO). There were 184 patients (42%) who had CAs associated with known MM cytogenetic risk groups, of which 34% were standard-risk, 61% were intermediate-risk, and 5% were high-risk. The median BM% of clonal plasma cells was 50% (range 1-95%). When examining the relationship between any CA and BM%, del(13q14), dup(1p32), dup(1q21), t(4;14), trisomy(11q13), and monosomy(16q23) were associated with a significantly higher BM% than patients who were lacking those respective CAs. For example, the median BM% for patients with t(4;14) was 60% compared with 15% in patients lacking this translocation (p<0.0001). LCO isotype was associated with a lower BM% (p<0.04), however there was no significant correlation between IgG/IgA isotypes and BM%. There was a higher median BM% seen in the intermediate risk group (50%, p<0.0001) compared to standard risk group (20%, p<0.04). The high risk group was not significantly associated with BM%. When comparing isotypes to cytogenetic risk groups, IgA isotype was significantly associated with intermediate risk cytogenetics (p<0.03). Conversely, there was a significantly lower rate of standard risk CAs among IgA isotypes (p<0.01). There was no significant correlation between IgG/LCO and cytogenetic risk. IgA isotype correlated with specific CAs, including del(13q) (p<0.02) and del(16q23) (p<0.04). There was a higher rate of t(11:14) in the non-IgA isotype groups. Additionally, IgG isotype was associated with a trisomy(11q13) (p<0.03). LCO isotype also corresponded with a higher rate of del(17p) (p<0.03), t(11:14) (p<0.03), and a lower rate of t(4:14) (p<0.04) and trisomy (11q13) (p<0.01). Conclusions: In MM, CAs are valuable in risk stratifying patients and predicting treatment responses. In this study, data suggest that the IgA isotype is significantly associated with intermediate-risk cytogenetics, including del(13q) and hypodiploidy, and LCO disease correlates with high risk cytogenetics, including del(17p). When taken together this may explain the previously known association of these isotypes with poorer prognosis, and suggests divergent clonal evolution among MM isotypes. Associations between clinical parameters and disease responses remain ongoing. Disclosures No relevant conflicts of interest to declare.

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Yokoyama, Emiy, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina, and Sara Frias. "Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review." Molecular Cytogenetics 13, no. 1 (September 7, 2020). http://dx.doi.org/10.1186/s13039-020-00510-5.

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Abstract Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported. Case presentation We describe a patient with intellectual disability, facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type 1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21. Discussion Our patient displayed DRS, which is not part of the classical phenotype and is not a common clinical feature in 1p36 deletion syndrome; we hypothesized that this could be associated with the overlapping deletion between the distal and proximal 1p36 regions. DRS is one of the Congenital Cranial Dysinnervation Disorders, and a genetic basis for the syndrome has been extensively reported. The HES3 gene is located at 1p36.31 and could be associated with oculomotor alterations, including DRS, since this gene is involved in the development of the 3rd cranial nerve and the 6th cranial nerve’s nucleus. We propose that oculomotor anomalies, including DRS, could be related to proximal 1p36 deletion, warranting a detailed ophthalmologic evaluation of these patients.

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Rocha, C. F., R. B. Vasques, S. R. Santos, and C. L. A. Paiva. "Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes." Genetics and Molecular Research 15, no. 1 (2016). http://dx.doi.org/10.4238/gmr.15017942.

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