Relevant bibliographies by topics / Del(5q) MDS

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  1. Journal articles
  2. Dissertations / Theses
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  4. Conference papers

Academic literature on the topic 'Del(5q) MDS'

Author: Grafiati
Published: 2 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Del(5q) MDS"

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Lee, Hye Ryun, Dae Sik Hong, Dae Young Zang, et al. "Incidence and Biologic Features of 5q Deletion and 5q- Syndrome in Myelodysplastic Syndrome in Korea; According to Reclassification of Myelodysplastic Syndrome by WHO 2008." Blood 114, no. 22 (2009): 2778. http://dx.doi.org/10.1182/blood.v114.22.2778.2778.

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Abstract Abstract 2778 Poster Board II-754 Introduction: Interstitial deletions involving the long arm of chromosome 5, one of the good prognostic factors, are the most common chromosomal abnormality either as a sole or in combination with other abnormalities in myelodysplastic syndromes (MDS). However, the prognostic impact of del(5q) accompanied by additional chromosome abnormalities remains controversial. We investigated the hematologic, cytogenetic and prognostic features of del(5q) in MDS. Also, we mapped the deleted region on 5q by fluorescence in situ hybridization (FISH), whether the d
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Wilk, Christian Matthias, and Jeroen Simon Goede. "MDS mit Deletion 5q." Therapeutische Umschau 79, no. 2 (2022): 87–91. http://dx.doi.org/10.1024/0040-5930/a001333.

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Zusammenfassung. Die Deletion des langen Arms des Chromosoms 5, del(5q), ist eine bei Myelodysplastischen Syndromen rekurrent auftretende Veränderung, die diese Erkrankungen nicht nur pathopysiologisch sondern auch hinsichtlich ihrer Therapie von anderen myelodysplastischen Syndromen unterscheidet. Die isoliert auftretende del(5q) ist mit einem günstigen Risikoprofil assoziiert und kann seit der Zulassung von Lenalidomid für diese Entität auch gezielt therapiert werden. Zu unterscheiden von der isoliert auftretenden del(5q) sind Veränderungen am langen Arm von Chromosom 5 in Verbindung mit meh
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Kantarjian, Hagop M., Susan O’Brien, Farhad Ravandi, et al. "The Heterogeneous Prognosis of Patients with Myelodysplastic Syndrome (MDS) and Chromosome 5 Abnormalities: How Does It Relate to the Original Lenalidomide Experience in MDS?." Blood 112, no. 11 (2008): 1644. http://dx.doi.org/10.1182/blood.v112.11.1644.1644.

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Abstract Purpose. The positive lenalidomide experience in lower risk myelodysplastic syndrome (MDS) with deletion 5q and red blood cells transfusion dependence resulted in its broad use in MDS. The study aim was to define the prognosis in MDS and deletion 5q with or without other cytogenetic abnormalities. Patients and Methods. Patients with MDS (<20% blasts) and evaluable cytogenetic studies (1966-present) were reviewed. Outcome of patients with deletion 5q or with loss of chromosome 5 (monosomy 5) was evaluated by the presence or absence of additional chromosomal abnormalities, overal
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Drusbosky, Leylah M., and Christopher R. Cogle. "Identification of Lenalidomide Sensitivity and Resistance Mechanisms in Non-Del(5q) Myelodysplastic Syndromes." International Journal of Molecular Sciences 21, no. 9 (2020): 3323. http://dx.doi.org/10.3390/ijms21093323.

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Whereas lenalidomide is an effective therapy for del(5q) MDS patients, a minority of non-del(5q) MDS patients achieve hematologic improvement with lenalidomide. We used computational biology modeling and digital drug simulation to examine genomic data from 56 non-del(5q) MDS patients treated with lenalidomide, and then matched treatment response with molecular pathways. The computer inferred genomic abnormalities associating with lenalidomide treatment response in non-del(5q) MDS to include trisomy 8, del(20q), or RUNX1 loss of function mutations. Genomic abnormalities associating with lenalid
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Haferlach, Claudia, Vera Grossmann, Alexander Kohlmann, Susanne Schnittger, Wolfgang Kern, and Torsten Haferlach. "The Type of Genetic Abnormalities Causing Loss of 5q Varies Between MDS and AML and Is Associated with Worse Prognosis in MDS." Blood 120, no. 21 (2012): 697. http://dx.doi.org/10.1182/blood.v120.21.697.697.

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Abstract Abstract 697 Background: Deletions of the long arm of chromosome 5 are frequent abnormalities in MDS and AML. Their size varies considerably. Two commonly deleted regions (CDR) have been described on 5q: a distal CDR deleted in the 5q- syndrome and a proximal region lost in higher-risk MDS and AML. However, the majority of MDS and AML patients with del(5q) show large deletions encompassing both CDRs. Recently, Jerez et al. (JCO 2012) reported on commonly retained regions (CRRs) using SNP arrays and observed that deletions involving the centromeric and telomeric extremes of 5q are asso
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Nimer, Stephen D. "Clinical Management of Myelodysplastic Syndromes With Interstitial Deletion of Chromosome 5q." Journal of Clinical Oncology 24, no. 16 (2006): 2576–82. http://dx.doi.org/10.1200/jco.2005.03.6715.

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Deletions of the long (q) arm of chromosome 5 [del(5q)]occur in patients with myelodysplastic syndromes (MDS) including, but not limited to, those who meet the WHO definition of the 5q− syndrome. Del(5q) MDS patients frequently have symptomatic anemia, and its treatment has traditionally consisted of RBC transfusions and, for some, iron chelation therapy. Erythropoietin, darbepoetin, hypomethylating agents, and lenalidomide can enhance erythropoiesis in MDS patients with anemia, increasing hemoglobin levels and abrogating RBC transfusion requirements. Lenalidomide is particularly active in tre
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Haferlach, Claudia, Sandra Huber, Stephan Hutter, et al. "Two Ways to Complex Karyotype in MDS - the Role of Del(5q) and TP53." Blood 144, Supplement 1 (2024): 1836. https://doi.org/10.1182/blood-2024-201270.

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Background: Deletions (del) 5q in MDS typically occur either in MDS with low blasts and del(5q) (MDS-5q according to WHO) or in MDS with complex karyotype (CK). While MDS-5q are generally associated with a favorable prognosis and harbor TP53 alterations (alt) in 10-20% of these cases (most commonly single-hit), MDS with CK are associated with an unfavorable outcome, harbor additional cytogenetic abnormalities such as monosomy 7 or del(7q) and del(17p) and frequently show TP53 alt which are multi-hit in 80-90% of cases. Aims: To clarify based on hierarchy analysis whether MDS with CK arises fro
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McGraw, Kathy Rocha, Lan Min Zhang, Dana E. Rollison, et al. "Predisposition to Myelodysplastic Syndrome with Deletion 5q Is Associated with TP53 Codon 72 Genotype." Blood 116, no. 21 (2010): 612. http://dx.doi.org/10.1182/blood.v116.21.612.612.

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Abstract Abstract 612 Background: Chromosome 5q deletion (del5q) is the most common cytogenetic abnormality in myelodysplastic syndrome (MDS). Although haplodeficiency of several genes may contribute to the disease phenotype, allelic deletion of the ribosomal protein S14 (RPS14) gene is a key effector of the hypoplastic anemia. Disruption of ribosome assembly arising from RPS14 deletion leads to nucleolar stress that triggers p53 activation. In a murine model of the human 5q- syndrome, TP53 inactivation was alone sufficient to rescue the hematologic phenotype, indicating that the molecular pat
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Kelaidi, Charikleia, Sophie Park, Sabine Brechignac, et al. "Treatment of Myelodysplastic Syndromes with del 5q before the Lenalidomide Era: The GFM Experience." Blood 108, no. 11 (2006): 2678. http://dx.doi.org/10.1182/blood.v108.11.2678.2678.

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Abstract Background: MDS with del 5q are characterized by profound anemia, which until the recent introduction of lenalidomide (N Engl J Med2005; 352: 549–57, J Clin Oncol2005;16S:5), was considered generally unresponsive to available treatments. In order to reevaluate the outcome of those patients in the pre-lenalidomide era, we analyzed response of anemia in MDS with del 5q treated with EPO ± G-CSF and thalidomide in previous GFM trials. Patients: MDS with del 5q included in 419 MDS treated with EPO or Darbepoetin (DAR) ± G-CSF by GFM centers (including 3 successive GFM trials: Blood2004; 10
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Grimwade, D. J., J. Stephenson, C. Silva, R. G. Dalton, and G. J. Mufti. "Familial MDS with 5q — abnormality." British Journal of Haematology 84, no. 3 (1993): 536–38. http://dx.doi.org/10.1111/j.1365-2141.1993.tb03115.x.

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Dissertations / Theses on the topic "Del(5q) MDS"

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PANETTA, PAOLA. "Alterazioni del gene NPM nelle mielodisplasie con delezione 5q-." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2009. http://hdl.handle.net/2108/1124.

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Myelodysplastic syndromes (MDS) include a heterogeneous group of disease characterized by dysplasia of one or more bone marrow cell lineages, usually with prominent ineffective erythropoiesis and genomic instability leading to anaemia and enhanced risk to transformation to secondary acute myeloid leukemia (AML) . Thus MDS is often diagnosed on the basis of chronic macrocytic anaemia accompanied or not by leukocytopenia and/or thrombocytopenia. The deletion of 5q (5q-) is a frequent clonal chromosomal abnormality in patients with MDS. MDS with 5q- as a sole chromosome alteration is characterize
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Watkins, Fiona. "An Investigation into the Molecular Pathogenesis of the Myelodysplastic Syndromes (MDS), in Particular the 5q- Syndrome." Thesis, Open University, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.520781.

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Book chapters on the topic "Del(5q) MDS"

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Chan, Onyee, Chetasi Talati, David Sallman, and Alan List. "Biology and Pathophysiology of MDS with del(5q)." In Diagnosis and Management of Myelodysplastic Syndromes. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-51878-3_3.

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Fernandez, C., J. P. Amoureux, Y. Dumazy, and L. Delevoye. "Multiquantum (3Q and 5Q) MAS NMR Spectroscopy of Aluminium-27 in Solids." In Nuclear Magnetic Resonance Spectroscopy of Cement-Based Materials. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-80432-8_5.

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Pillai, Vinodh. "Myelodysplastic Syndrome (MDS) with Isolated del(5q)." In Hematopathology. Elsevier, 2013. http://dx.doi.org/10.1016/b978-1-4377-1758-7.00136-6.

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Bendari, Mounia, and Nisrine Khoubila. "Cytogenetic and Genetic Advances in Myelodysplasia Syndromes." In Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97112.

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Myelodysplasia syndromes (MDS) are defined by a heterogeneous group of myeloid malignancies characterized by peripheral blood cytopenia and dishematopoiesis and frequently progress to acute myeloid leukemia. Conventional karyotype has a crucial role in myelodysplastic syndrome (MDS) and is one of items of the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Approximately 50–60% of cases of MDS present chromosomal abnormalities, like the deletions of chromosome 5q and 7q, trisomy 8, and complex karyotypes. New genomic technologies have been
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Madhusoodanan, Sayooj, Saurav Panicker, and Satish Ramalingam. "Chromosome 5." In Cancer Genes. BENTHAM SCIENCE PUBLISHERS, 2023. http://dx.doi.org/10.2174/9789815080292123010008.

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Chromosome 5 presents an extensive collection of genes, and includes several cancer-associated ones. The contribution of chromosome 5 in abnormalities is evident through somatic translocations, germline, somatic, and, in some instances, expression of genes. Various syndromes are associated with chromosome 5, such as 5q minus syndrome, leading to the development of acute myeloid leukemia, PDGFRBassociated chronic eosinophilic leukemia contributing to acute myeloid leukemia, and myelodysplastic syndromes. Studies propose that a few genes on chromosome 5 play important roles withinside the increa
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Brierley, Charlotte K., and David P. Steensma. "Myelodysplastic syndromes." In Oxford Textbook of Medicine, edited by Chris Hatton and Deborah Hay. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0514.

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The myelodysplastic syndromes (MDS) are marrow failure syndromes characterized by cytopenias, blood cell dysmorphology, acquired clonal cytogenetic and molecular genetic mutations, and a risk of development of acute myeloid leukaemia. MDS may evolve in patients previously treated with cytotoxic chemotherapy or radiotherapy for a solid tumour, but most commonly arise de novo in patients over 60 years old. Most patients present with features of chronic anaemia or manifestations related to thrombocytopenia or infection. The diagnosis may be suggested by the presence of normocytic or macrocytic an
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Conference papers on the topic "Del(5q) MDS"

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Drusbosky, Leylah, Neeraj Kumar Singh, Shireen Vali, Taher Abbasi, and Christopher R. Cogle. "Abstract 4545: A computational biology method to predict HMA or lenalidomide treatment response in non-Del(5q) MDS." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-4545.

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