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

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Published: 2 June 2025

Last updated: 31 July 2025

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1

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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2

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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3

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 (&lt;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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Klein, Friederike. "Del(5q)-MDS spezifisch behandeln." Im Focus Onkologie 16, no. 9 (2013): 80. http://dx.doi.org/10.1007/s15015-013-0599-3.

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12

McGraw, Kathy L., Lan Min Zhang, William Fulp, et al. "Association of MDM2 Gene Polymorphisms SNP285 and 309 with Myelodysplastic Syndromes (MDS) Susceptibility and Outcome." Blood 120, no. 21 (2012): 2823. http://dx.doi.org/10.1182/blood.v120.21.2823.2823.

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Abstract Abstract 2823 Background: Mutations in TP53, or less often its regulators, increases risk for malignant transformation. Murine double minute protein 2 (MDM2), an E3 ubiquitin ligase, targets p53 for proteasomal degradation and is the most well studied negative regulator of p53. Recent investigations have highlighted the emerging importance of p53 in MDS. Haploinsufficiency for ribosomal protein S14 in deletion 5q MDS liberates free ribosomal proteins that bind to and promote degradation of MDM2, thereby activating p53 in erythroid precursors. A single nucleotide polymorphism (SNP) in

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13

Sejpal, Jaykumar J., Yogesh R. Belagali, and Hanmant V. Barkate. "Lenalidomide – A Brief Review of its Use in Myelodysplastic Syndromes." European Oncology & Haematology 11, no. 2 (2015): 141. http://dx.doi.org/10.17925/eoh.2015.11.02.141.

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Myelodysplastic syndromes (MDS) are a heterogeneous group of blood diseases mainly affecting older people. Deletion of the long arm of chromosome 5 (del[5q]) is reported in approximately 10–15 % of all MDS cases. Lenalidomide is an immunomodulatory, anti-cytokine and anti-angiogenic agent, which leads to red blood cells transfusion independence in patients of lower risk MDS with del(5q). This review briefly describes role of lenalidomide in treatment of lower-risk MDS with del(5q) as well as non-del-5q MDS. Recent evidence also suggest a potential role of lenalidomide in combination with other

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Almeida, Antonio, Valeria Santini, Stefanie Gröpper, et al. "Safety of Lenalidomide (LEN) 10mg in Non-Del(5q) Versus Del(5q) in the Treatment of Patients (Pts) with Lower-Risk Myelodysplastic Syndromes (MDS): Pooled Analysis of Treatment-Emergent Adverse Events (TEAEs)." Blood 126, no. 23 (2015): 2880. http://dx.doi.org/10.1182/blood.v126.23.2880.2880.

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Abstract Introduction: Anemia represents the main therapeutic challenge in pts with lower-risk MDS (Fenaux P, Adès L. Blood. 2013;121:4280-6). Prospective studies evaluating LEN for the treatment of red blood cell transfusion-dependent pts showed significant clinical activity in both non-del(5q) and del(5q) International Prognostic Scoring System-defined lower-risk MDS (Raza A, et al. Blood. 2008;111:86-93; Santini V, et al. Blood. 2014;124:abstract 409; List A, et al. N Engl J Med. 2006;355:1456-65; Fenaux P, et al. Blood. 2011;118:3765-76). Hematologic adverse events (AEs) are common, but ma

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15

Cheong, June-Won, Inho Kim, Sung-Soo Yoon, et al. "Clinical Features and Prognosis of MDS Patients with Chromosome 5 Abnormalities Other Than ‘5q-Syndrome’: Results of Multi-Center Analysis in Korea." Blood 110, no. 11 (2007): 4618. http://dx.doi.org/10.1182/blood.v110.11.4618.4618.

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Abstract Introduction: The myelodysplastic syndrome (MDS) is frequently associated with various chromosomal abnormalities. ‘5q− syndrome’ is low-risk MDS known as good responder of lenalidomide recently. However, the patients with other abnormalities in chromosome 5 showed quite different clinical features from those with ‘5q− syndrome’. The aim of this study was a retrospective evaluation for Korean MDS patients with abnormalities in chromosome 5 other than ‘5q− syndrome’. Materials and Methods: Among 456 patients with MDS diagnosed at 16 hospitals in Korea between 1996 and 2006, 370 with ava

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16

Giagounidis, Aristoteles, Alan F. List, Eva Hellstrom-Lindberg, et al. "Prevalence and Clinical Impact of Additional Cytogenetic Abnormalities in Patients (Pts) with Myelodysplastic Syndromes (MDS) and Deletion 5q from the MDS-003 and MDS-004 Studies." Blood 124, no. 21 (2014): 3270. http://dx.doi.org/10.1182/blood.v124.21.3270.3270.

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Abstract Introduction: Around 50% of pts with de novo MDS present with chromosomal abnormalities at diagnosis. One of the most common cytogenetic abnormalities in MDS, deletion 5q [del(5q)], occurs in ~15% of pts (Haase et al. Blood 2007;110:4385-95). The presence of cytogenetic abnormalities in addition to del(5q) may be associated with shorter overall survival (OS) and increased risk of progression to acute myeloid leukemia (AML) versus del(5q) alone (Mallo et al. Leukemia 2011;25:110-20). In 2 large multicenter studies (MDS-003 and MDS-004), lenalidomide (LEN) was evaluated in RBC transfusi

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Göhring, Gudrun, Aristoteles Giagounidis, Carlo Aul, et al. "Long-Term Cytogenetic Follow-up of MDS Patients with 5q- Treated within the MDS-003 (CC-5013-MDS-003) Study: Evolution to Complex Clones and Progression to AML." Blood 112, no. 11 (2008): 1647. http://dx.doi.org/10.1182/blood.v112.11.1647.1647.

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Abstract Lenalidomide is the first drug to consistently induce transfusion independence and complete cytogenetic remissions in MDS patients with deletion of 5q. However, recently concerns were raised whether lenalidomide treatment may increase the risk of leukemic transformation. The selective activity of lenalidomide against the deletion 5q clone may allow pre-existing aberrant clones to expand if the dominant deletion 5q clone is eradicated in a circumstance in which few normal stem cells remain. This conditional selection of pre-existing clones (M. Cazzola, Haematologica2008; 93:967–72) cou

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18

Follo, Matilde Y., Carlo Finelli, Cristina Clissa, et al. "Clonal Effect Of Lenalidomide On Akt Activation In Low-Risk MDS Patients With Del(5q)." Blood 122, no. 21 (2013): 5227. http://dx.doi.org/10.1182/blood.v122.21.5227.5227.

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Abstract Lenalidomide is an immunomodulating drug currently used in the treatment of del(5q) low-risk MDS patients, where it can suppress the del(5q) clone and restore a normal erythropoiesis. The exact molecular mechanisms underlying the effect of Lenalidomide in del(5q) MDS are not completely clear, although Akt phosphorylation is inhibited in Lenalidomide-sensitive del(5q) cell lines (Gandhi et al, 2006). On the other hand, the activation of the Akt/mTOR pathway has been demonstrated in CD34+ cells from high-risk MDS (Follo et al, 2007), which show alterations on stem cell proliferation, di

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Fallorina, Alfredo, and Tuoen Liu. "Del(5q) MDS and erythroid maturation." Cell Signaling 2, no. 1 (2024): 90–95. http://dx.doi.org/10.46439/signaling.2.036.

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Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell malignancies characterized by abnormal hematopoietic cell maturation, increased apoptosis of bone marrow cells, and anemia. The full complement of gene mutations that contribute to the phenotypes or clinical symptoms in MDS is not fully understood. Approximately 10%–25% of MDS patients harbor an interstitial heterozygous deletion on the long arm of chromosome 5, known as del(5q), creating haploinsufficiency for a large set of genes. Two distinct commonly deleted regions (CDRs) in del(5q), proximal and d

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Pellagatti, Andrea, Eva Hellström-Lindberg, Aristoteles Giagounidis, et al. "Haploinsufficiency of RPS14 and Deregulation of Ribosomal- and Translation-Related Genes in MDS Patients with Del(5q)." Blood 112, no. 11 (2008): 3641. http://dx.doi.org/10.1182/blood.v112.11.3641.3641.

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Abstract The del(5q) is the most commonly reported deletion in de novo MDS and is found in 10–15% of all patients. Our group demonstrated haploinsufficiency for the ribosomal gene RPS14, which is required for the maturation of 40S ribosomal subunits and maps to the commonly deleted region in patients with the 5q- syndrome (Boultwood et al, Br J Haematol2007, 139:578–89). Haploinsufficiency of RPS14 has been shown to be the mechanism underlying the erythroid defect in this disorder (Ebert et al, Nature2008, 451:335–9). We have recently shown that haploinsufficiency of RPS14 in patients with the

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Oelschlaegel, Uta, Katja Sockel, Brigitte Mohr, Christian Thiede, Gerhard Ehninger, and Uwe Platzbecker. "POTENTIAL ROLE of 8-COLOR FLOW CYTOMETRY for CHARACTERIZATION of MDS with Del(5q) ABNORMALITIES." Blood 118, no. 21 (2011): 5020. http://dx.doi.org/10.1182/blood.v118.21.5020.5020.

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Abstract Abstract 5020 Four-colour based flow cytometry (FCM) of bone marrow (BM) samples has become a valuable tool in the diagnostics of patients (pts) with myelodysplastic syndrome (MDS). It is still unknown, whether aberrations detected by FCM differ between certain cytogenetic subgroups. By using an 8-color (5-tube) FCM diagnostic panel we aimed to investigate the antigen patterns of MDS pts with del(5q) abnormalities and compared these to MDS pts with non-del(5q) MDS. BM samples of healthy donors (n=19) and 57 MDS pts including 28 pts (15 RCMD; 3 RAEB-1; 8 RAEB-2; 1 RAEB-t; 1 CMMoL-1) wi

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Haferlach, Claudia, Manja Meggendorfer, Susanne Schnittger, Melanie Zenger, Wolfgang Kern, and Torsten Haferlach. "5q Deletions in MDS and MPN: The Accompanying Molecular Mutations Determine the Phenotype but TP53 Is Frequently Mutated in All Entities: MPN, MDS and MPN/MDS Overlap." Blood 124, no. 21 (2014): 1926. http://dx.doi.org/10.1182/blood.v124.21.1926.1926.

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Abstract Background: 5q deletions are recurrent cytogenetic abnormalities. They occur either as the sole abnormality or accompanied by additional chromosome aberrations in MDS, MPN and MDS/MPN. Aim: To determine 1. the frequency of 5q deletions in MPN, MDS and MDS/MPN, 2. the spectrum of accompanying molecular mutations and their impact on the phenotype. Patients and Methods: Out of 6,373 MPN, 11,398 MDS, and 1,107 MDS/MPN with available cytogenetics 97, 1,869, and 37 cases with 5q deletion were identified. From these we selected all cases with 5q deletion and MPN or MDS/MPN with available mat

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Zhang, Ling, Saskia Gueller, Sophie Raynaud, Phillip H. Koeffler, and Stephen Lee. "JAK2 V617F Mutation Is Infrequent in “5q-Syndrome” and 5q-Associated MDS." Blood 108, no. 11 (2006): 4833. http://dx.doi.org/10.1182/blood.v108.11.4833.4833.

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Abstract Background: V617F mutation in Janus Kinase 2 (JAK2) gene has been found in chronic myeloproliferative disorders (MPD) including polycythemia vera (90%), essential thrombocythemia and chronic idiopathic myelofibrosis (30–50%), and occasionally in myelodysplastic syndromes (MDS). “5q- Syndrome” is a MDS that shares features with MPD and characterized by an atypical megakaryocytic hyperplasia in bone marrow and usually thrombocytosis in peripheral blood. The most common deleted region for this syndrome is 5q13.3q33.1. An interstitial deletion with variable proximal (5q12-14) and distal (

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Giagounidis, Aristoteles, Alan List, Eva Hellström-Lindberg, et al. "Impact Of The Proportion Of Metaphases With Isolated Del(5q) On Clinical Outcomes In Lenalidomide (LEN)-Treated Patients With IPSS Low-/Int-1-Risk Myelodysplastic Syndromes (MDS) In MDS-003 and MDS-004." Blood 122, no. 21 (2013): 1538. http://dx.doi.org/10.1182/blood.v122.21.1538.1538.

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Abstract Introduction The proportion of aberrant metaphases is prognostic for overall survival (OS) in MDS patients with trisomy 8 (Mallo M, et al. Leuk Res. 2011;35:834-6). The impact of the proportion of metaphases with del(5q) on clinical outcomes, including OS, disease progression and response to therapy with LEN in MDS remains undefined. In two large multicenter studies of LEN (MDS-003 and MDS-004) in RBC transfusion-dependent patients with International Prognostic Scoring System (IPSS) Low- or Intermediate (Int)-1-risk del(5q) MDS, RBC transfusion independence (TI) ≥ 8 weeks was achieved

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Diaz-Mazkiaran, Aintzane, Guillermo Serrano, Nerea Berastegui, et al. "The Transcriptional Impact of 5q Deletion in MDS at Single Cell Resolution." Blood 142, Supplement 1 (2023): 1850. http://dx.doi.org/10.1182/blood-2023-186173.

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Introduction: Myelodysplastic syndromes with 5q deletion (del(5q) MDS) are characterized by two commonly deleted regions (CDRs): 5q31 and 5q32-33. Although several genes within these CDRs have been associated with disease pathophysiology, the molecular basis underlying its origin is still unknown. Lenalidomide represents the first therapeutic approach for del(5q) MDS, but patients experience loss of responsiveness within 2-3 years, highlighting the need of characterizing the mechanisms impairing treatment response. While previous studies have identified dysregulated genes and pathways in the d

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Itzykson, Raphael, Sylvain Thépot, Claire Fabre, et al. "Response to Azacytidine (AZA) in MDS or AML with Del 5q : Current Results of the French ATU Program." Blood 112, no. 11 (2008): 2682. http://dx.doi.org/10.1182/blood.v112.11.2682.2682.

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Abstract Background: AZA significantly improves survival over conventional treatment in higher risk MDS, especially in case of −7/del 7q (ASH 2007, abst n°817). Del 5q is the most frequent cytogenetic abn in MDS. Lower risk MDS with del 5q respond dramatically to lenalidomide (LEN), but the response rate to LEN is lower in higher risk MDS and AML with del 5q, that still have a poor outcome (ASH 2007, abst n°820). We analyzed response to AZA in those pts. Methods: A multicenter patient named treatment program of AZA (75mg/m2/d for 7 days every 28 days) for higher risk MDS and AML (ATU program)

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Reagan, John L., Thomas Ollila, Patrycja M. Dubielecka, and Adam J. Olszewski. "Survival of Patients with Del(5q) Syndrome in the Lenalidomide Era." Blood 128, no. 22 (2016): 1994. http://dx.doi.org/10.1182/blood.v128.22.1994.1994.

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Abstract Background: Myelodysplastic syndrome with deletion 5q [del(5q) MDS] is characterized by higher incidence in older women, progressive anemia, and >70% rate of hematologic response to single-agent lenalidomide (Len). Len was approved for del(5q) MDS by the United States Food and Drug Administration (FDA) in 2005 on the basis of response rates, with uncertain effect on overall survival (OS). Our objective was to evaluate whether the availability of Len affected the frequency of del(5q) designation among newly diagnosed MDS cases in the US, and to compare OS of del(5q) MDS patients tre

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28

Hofmann, Wolf-Karsten, Florian Nolte, Ouidad Benlasfer, Eckhard Thiel, Gerhard Ehninger, and Uwe Platzbecker. "Prediction of Response to Treatment with Lenalidomide in Patients with Non-Del 5q Myelodysplastic Syndrome by Gene Expression Profiling Remains Difficult." Blood 114, no. 22 (2009): 2781. http://dx.doi.org/10.1182/blood.v114.22.2781.2781.

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Abstract Abstract 2781 Poster Board II-757 Lenalidomide belongs to a proprietary class of immunmodulatory drugs showing therapeutic activity in patients with myelodysplastic syndrome (MDS), in particular in those having the 5q-abnormality, but also in patients not showing this cytogenetical aberration. In 2008, Ebert et al. (PLos Med. 2, e35) could demonstrate that there is a specific gene expression profile in bone marrow cells collected from MDS-patients either with 5q- syndrome as well as MDS-patients having no 5q-abnormality which is strongly correlated with the clinical response to treatm

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Pellagatti, Andrea, and Jacqueline Boultwood. "RECENT ADVANCES IN THE 5Q- SYNDROME." Mediterranean Journal of Hematology and Infectious Diseases 7 (May 20, 2015): e2015037. http://dx.doi.org/10.4084/mjhid.2015.037.

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The 5q- syndrome is the most distinct of the myelodysplastic syndromes (MDS) and patients with this disorder have a deletion of chromosome 5q [del(5q)] as the sole karyotypic abnormality. Several genes mapping to the commonly deleted region of the 5q- syndrome have been implicated in disease pathogenesis in recent years. Haploinsufficiency of the ribosomal gene RPS14 has been shown to cause the erythroid defect in the 5q- syndrome. Loss of the microRNA genes miR-145 and miR-146a has been associated with the thrombocytosis observed in 5q- syndrome patients. Haploinsufficiency of CSNK1A1 leads t

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30

Zhang, Yue, Nikolai A. Podoltsev, Bonnie E. Gould Rothberg, Madhav V. Dhodapkar, and Daniel Morgensztern. "Incidence and Outcomes for Low Risk Myelodysplastic Syndrome: A Surveillance, Epidemiology and End Results (SEER) Study." Blood 120, no. 21 (2012): 4944. http://dx.doi.org/10.1182/blood.v120.21.4944.4944.

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Abstract Abstract 4944 Background: Despite its common occurrence, there are few large population-based studies on low-grade myelodysplastic syndromes (MDS), which became available to United States central cancer registries only in 2001. We evaluated the outcomes for low-grade MDS according to histological subtype and cause of death. Methods: The Surveillance, Epidemiology and End Results (SEER) database was searched for patients with refractory anemia (RA), RA with ringed sideroblasts (RARS), refractory cytopenia with multilineage dysplasia (RCMD) and MDS with 5q deletion (5q-), diagnosed betw

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Varney, Melinda, Andres Jerez, Jing Fang та ін. "Tifab, a Novel Candidate Gene in Deletion Chromosome 5q, Contributes to Deregulation of NF-κB Signaling in MDS/AML." Blood 120, № 21 (2012): 2812. http://dx.doi.org/10.1182/blood.v120.21.2812.2812.

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Abstract Abstract 2812 Myelodysplastic syndromes (MDS) are hematologic disorders defined by blood cytopenias due to ineffective hematopoiesis, altered cytogenetics, and predisposition to acute myeloid leukemia (AML). The most common cytogenetic alteration in de novo and treatment-related MDS is deletion of chromosome 5q (del(5q)). There are two commonly deleted regions (CDR) mapped to chr 5q, however the gene(s) in these regions responsible for the manifestation of del(5q) MDS are not clearly defined. A search of annotated genes revealed that TRAF-interacting protein with forkhead-associated d

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Braester, A., H. Bar-El, P. Trugoboff, and Y. Varkel. "PO029 7q-MDS mimicking 5q-syndrome." Leukemia Research 31 (May 2007): S143. http://dx.doi.org/10.1016/s0145-2126(07)70259-x.

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Giagounidis, A. "38 Management of del(5q) MDS." Leukemia Research 33 (May 2009): S27. http://dx.doi.org/10.1016/s0145-2126(09)70035-9.

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Ye, Ying, Michael McDevitt, Mingzhou Guo, et al. "a-catenin Hypermethylation Correlates with AML Transformation in Patients with and without 5q Defects." Blood 110, no. 11 (2007): 2119. http://dx.doi.org/10.1182/blood.v110.11.2119.2119.

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Abstract Interstitial loss of the long arm of chromosome(Ch) 5 or complete loss of Ch 5 is seen in de novo MDS and AML, and more frequently in MDS and AML arising after previous cancer treatments with alkylating agents or radiotherapy. The recurrent nature of these chromosomal deletions suggests that 5q contains tumor suppressor gene(s) important to hematological transformation. Although the common deleted 5q31 region has been delineated for some time, no genes have been identified that explain the poor prognosis of these patients. While tumor suppressor genes altered in solid tumors are infre

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Heuser, Michael, Manja Meggendorfer, Michelle Maria Araujo Cruz, et al. "Casein Kinase 1A1 (CSNK1A1) Is Recurrently Mutated in MDS Patients with Deletion of Chromosome 5q." Blood 124, no. 21 (2014): 4643. http://dx.doi.org/10.1182/blood.v124.21.4643.4643.

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Abstract Background and Aim: Deletion of 5q is the most frequent cytogenetic aberration in MDS and is associated with distinct clinical characteristics, disease course and sensitivity to lenalidomide. The serine-threonine kinase CSNK1A1 is located in the commonly deleted region at 5q32 and has been described as a tumor-suppressor gene in colon cancer and acute myeloid leukemia through regulation of ß-catenin and p53. Recently, missense mutations in CSNK1A1 have been described in individual patients with del(5q) MDS. The aim of our study was to characterize the frequency and potential prognosti

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Sun, Yang, and James R. Cook. "Comparison of Fluorescence In Situ Hybridization for EGR1 Vs CSF1R for the Detection of Del(5q) in Myelodysplasia and Acute Myeloid Leukemia." Blood 112, no. 11 (2008): 1641. http://dx.doi.org/10.1182/blood.v112.11.1641.1641.

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Abstract The detection of del(5q) in myelodysplastic syndrome (MDS) provides useful information to guide the choice of therapy, given the efficacy of lenalidomide in cases containing this abnormality. Fluorescence in situ hybridization (FISH) analysis offers the opportunity to specifically detect chromosomal abnormalities much more rapidly than metaphase cytogenetics, which may have a turnaround time of several weeks. However, it is currently unclear which chromosomal loci are the most appropriate to examine for detection of del(5q) in routine practice. The breakpoints on chromosome 5q are het

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Liu, Ting Xi, Michael Becker, Karl Hsu та ін. "Epigenetic Suppression of the CTNNA1 Gene, Encoding the α-Catenin Protein, which Is Located in the 5q31 Critical Deleted Region in Malignant Myeloid Disorders with del(5q)." Blood 104, № 11 (2004): 203. http://dx.doi.org/10.1182/blood.v104.11.203.203.

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Abstract Recurring interstitial loss of all or part of the long arm of chromosome 5, del(5q), is associated with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Although the affected genes have not been identified, two critical deleted regions (CDR) on 5q have been established, a proximal CDR located in 5q31, and another distal CDR in 5q32–33. We investigated the expression of 28 genes located in the 5q31 CDR, in enriched populations of normal hematopoietic stem cells (HSCs) and leukemic initiating cells (L-ICs) by the reverse transcription polymerase chain reaction (RT-PCR).

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Fang, Jing, Andres Jerez, Christopher Rasch, Lyndsey Bolanos, Jaroslaw P. Maciejewski та Daniel T. Starczynowski. "Haploinsufficiency of Mir-146a in High-Risk Del(5q) MDS/AML Requires an Intrachromosomal Gene Network Involving p62/TRAF6/NF-κB". Blood 120, № 21 (2012): 557. http://dx.doi.org/10.1182/blood.v120.21.557.557.

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Abstract Abstract 557 Deletion of chromosome 5q (del(5q)) is one of the most common cytogenetic abnormalities in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Commonly deleted regions (CDR) have been mapped to 5q31.1 and 5q33.1 in del(5q) AML and MDS, respectively. Although there has been extensive efforts to identify candidate genes within the CDRs and decipher which genes contribute to the high-risk versus low-risk phenotypes, more recent findings indicate that deletions involving the telomeric bands of 5q are associated with more aggressive forms of del(5q) MDS/AML (Jerez

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Giagounidis, Aristoteles, Alan F. List, Eva Hellström-Lindberg, et al. "Prevalence and Impact on Outcomes of Additional Karyotypic Abnormalities in Patients (Pts) with Myelodysplastic Syndromes (MDS) and Del(5q) from the MDS-003 and MDS-004 Studies." Blood 126, no. 23 (2015): 1680. http://dx.doi.org/10.1182/blood.v126.23.1680.1680.

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Abstract Introduction: Approximately 50% of pts with de novoMDS present with cytogenetic abnormalities at diagnosis (Haase D, et al. Ann Hematol. 1995;70:171); deletion (del)5q occurs in ~15% of pts (Haase D, et al. Blood. 2007;110:4385). Cytogenetic abnormalities in addition to del(5q) may be associated with shorter overall survival (OS) and increased risk of progression to acute myeloid leukemia (AML) versus del(5q) alone (Mallo M, et al. Leukemia. 2011;25:110). In 2 large multicenter studies (MDS-003 and MDS-004), lenalidomide (LEN) was evaluated in red blood cell (RBC) transfusion-dependen

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Sanders, Daniel Steven, Thomas Fennell, and Mohammad Muhsin Chisti. "MDS with 5q deletion and rare cKIT positive mastocytosis: a diagnostic and therapeutic challenge." BMJ Case Reports 12, no. 4 (2019): e227768. http://dx.doi.org/10.1136/bcr-2018-227768.

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A patient with a diagnosis of myelodysplastic syndrome (MDS) with isolated 5q deletion underwent repeat bone marrow biopsy to assess haematological response after 6 months of initial lenalidomide therapy. Subsequent bone marrow biopsies revealed persistent MDS with del(5q) in addition to a small atypical mast cell population with >25% of mast cells with spindle-shaped morphology and immunohistochemistry characteristics consistent with mastocytosis. Molecular testing on the bone marrow was positive for cKIT D816V and the patient was diagnosed with systemic mastocytosis (SM) with an associate

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Schoch, Claudia, Alexander Kohlmann, Wolfgang Kern, et al. "Gene Expression Profiling in AML and MDS Identifies Genes Located on 5q Which Are Consistently Lower Expressed in Cases with 5q Deletion as Compared to Cases with Normal Karyotype." Blood 104, no. 11 (2004): 549. http://dx.doi.org/10.1182/blood.v104.11.549.549.

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Abstract Deletions of the long arm of chromosome 5 occur either as the sole karyotype abnormality in MDS and AML or as part of a complex aberrant karyotype. It was the aim of this study to analyze the impact of the 5q deletion on the expression levels of genes located on chromosome 5q in AML and MDS. Therefore, gene expression analysis was performed in 344 AML and MDS cases using Affymetrix U133A+B oligonucleotide microarrays. The following subgroups were analyzed: AML with sole 5q deletion (n=7), AML with complex aberrant karyotype (n=83), MDS with sole 5q deletion (n=9), and MDS with complex

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Lauseker, Michael, Jennifer Schemenau, Corinna Strupp, et al. "In MDS Del(5q), Factors Other Than Age and Sex Distribution Contribute to the Prognostic Advantage, Which Diminishes over Time." Blood 124, no. 21 (2014): 3271. http://dx.doi.org/10.1182/blood.v124.21.3271.3271.

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Abstract Introduction The WHO classification of myelodysplastic syndromes defines several subtypes. Prognosis of MDS del(5q) is considered favourable, which is reflected in the WHO prognostic scoring system (WPSS). Compared to other subtypes like refractory cytopenia with unilineage dysplasia (RCUD), refractory cytopenia with multilineage dysplasia (RCMD) and refractory anaemia with ringed sideroblasts (RARS), MDS del(5q) patients are however younger and the percentage of female patients is higher. Thus, the aim of this work was to determine to which extent the prognostic advantage of MDS del(

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Sekeres, Mikkael A., Arlene S. Swern, Aristoteles Giagounidis, et al. "Association Of Cytogenetic Response (CyR) With RBC Transfusion-Independence (RBC-TI) and AML-Free Survival In Lenalidomide (LEN)-Treated Patients (Pts) With IPSS Low-/Int-1-Risk Myelodysplastic Syndromes (MDS) With Del(5q)." Blood 122, no. 21 (2013): 390. http://dx.doi.org/10.1182/blood.v122.21.390.390.

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Abstract Introduction The efficacy and safety of LEN in RBC transfusion-dependent pts with International Prognostic Scoring System (IPSS) Low- or Intermediate (Int)-1-risk MDS with del(5q) was assessed in 2 large, multicenter studies (MDS-003 [List A, et al. N Engl J Med. 2006;355:1456-65] and MDS-004 [Fenaux P, et al. Blood. 2011;118:3765-76]). RBC-TI for ≥ 8 weeks and CyR was achieved in 51–67% and 25–73% of pts treated with LEN, respectively. In a multivariate analysis, achievement of RBC-TI ≥ 26 weeks with LEN was associated with a significantly reduced risk of acute myeloid leukemia (AML)

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Sekeres, Mikkael A., Jaroslaw P. Maciejewski, Aristotle A. N. Giagounidis, et al. "Relationship of Treatment-Related Cytopenias and Response to Lenalidomide in Patients With Lower-Risk Myelodysplastic Syndromes." Journal of Clinical Oncology 26, no. 36 (2008): 5943–49. http://dx.doi.org/10.1200/jco.2007.15.5770.

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PurposePatients with myelodysplastic syndromes (MDS) often require treatment with growth factors (GFs) or non-GF therapies. One non-GF drug, lenalidomide, is particularly effective at achieving transfusion independence (TI) in patients with lower-risk MDS with the del(5q) cytogenetic abnormality. However, approximately half of del(5q) patients and one quarter of non–del(5q) patients treated with lenalidomide experience significant cytopenias. Lenalidomide-induced cytopenias occurring early in treatment may serve as a surrogate marker of clonal suppression and, therefore, may be predictive of a

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Nilsson, Lars, Ingbritt Åstrand-Grundström, Ingrid Arvidsson, et al. "Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: evidence for involvement at the hematopoietic stem cell level." Blood 96, no. 6 (2000): 2012–21. http://dx.doi.org/10.1182/blood.v96.6.2012.

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Abstract Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders characterized by ineffective hematopoiesis and frequent progression to acute myeloid leukemia. Within MDS, 5q− syndrome constitutes a distinct clinical entity characterized by an isolated deletion of the long arm of chromosome 5 (5q−), a relatively good prognosis, and infrequent transformation to acute leukemia. The cell of origin in 5q− syndrome as well as in other 5q-deleted MDS patients has not been established, but evidence for involvement of multiple myeloid (but not lymphoid) lineages has suggested tha

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Nilsson, Lars, Ingbritt Åstrand-Grundström, Ingrid Arvidsson, et al. "Isolation and characterization of hematopoietic progenitor/stem cells in 5q-deleted myelodysplastic syndromes: evidence for involvement at the hematopoietic stem cell level." Blood 96, no. 6 (2000): 2012–21. http://dx.doi.org/10.1182/blood.v96.6.2012.h8002012a_2012_2021.

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Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal disorders characterized by ineffective hematopoiesis and frequent progression to acute myeloid leukemia. Within MDS, 5q− syndrome constitutes a distinct clinical entity characterized by an isolated deletion of the long arm of chromosome 5 (5q−), a relatively good prognosis, and infrequent transformation to acute leukemia. The cell of origin in 5q− syndrome as well as in other 5q-deleted MDS patients has not been established, but evidence for involvement of multiple myeloid (but not lymphoid) lineages has suggested that a myelo

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Montoro, Maria Julia, Laura Palomo, Claudia Haferlach, et al. "Newly Developed Prognostic Score for Myelodysplastic Syndrome (MDS) with Isolated 5q Deletion (IPSS-del(5q))." Blood 144, Supplement 1 (2024): 666. https://doi.org/10.1182/blood-2024-194405.

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Background & aim: Patients (pts) with MDS-del(5q), including those with TP53 multihit mutations, exhibit better outcomes compared to the general MDS population (Montoro et al., Blood 2024). However, approximately 20% of MDS-del(5q) eventually progress to acute myeloid leukemia (AML). Because the defining criteria of MDS-del(5q) exclude the presence of blasts and adverse cytogenetics, current prognostic scoring systems, such as the Revised International Prognostic Scoring System (IPSS-R) and its molecular counterpart (IPSS-M), fail to effectively stratify the risk of this MDS subtype. This

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Mintzer, David Michael, and Shira N. Billet. "Efficacy of Lenalidomide for Treatment of Anemia in Secondary Myelodysplastic Syndrome (MDS) with Chromosome 5q Deletion." Blood 110, no. 11 (2007): 4614. http://dx.doi.org/10.1182/blood.v110.11.4614.4614.

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Abstract Lenalidomide can be effective in treatment of MDS, particularly in patients with isolated 5q deletion, as well as in patients with 5q− with other karyotypic abnormalities (List et. al. NEJM355, 1456; 2006). However, there is little data for secondary MDS. We report two patients with chemotherapy-induced MDS with 5q−, both treated with lenalidomide, one of whom responded. Case 1: An 81-year-old female with multiple myeloma who had been treated with melphalan and prednisone developed worsening anemia despite continued biochemical remission of her myeloma. Three years after melphalan tre

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Mallo, Maria del Mar, José Cervera, Julie Schanz, et al. "Prognostic Impact of Additional Chromosomal Aberrations (ACA) to 5q- in Patients with primary Myelodysplastic Syndrome." Blood 112, no. 11 (2008): 1649. http://dx.doi.org/10.1182/blood.v112.11.1649.1649.

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Abstract Deletion of the long arm of chromosome 5 is the most frequent chromosomal abnormality in MDS (10–15% of MDS cases). Patients with del(5q), particularly those with the ‘5q-syndrome’ have a much better prognosis than other MDS subtypes. Although the presence of additional chromosome abnormalities (ACA), apart from 5q-, has been suggested to negatively influence this favourable outcome, the exact prognostic impact of ACA remains unknown. The aim of the present study was to analyse the prognostic value of ACA in a large series of patients with MDS with 5q- abnormality, treated with suppor

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Gurney, Mark, Mrinal M. Patnaik, Curtis A. Hanson, et al. "The 2016 Revised World Health Organization Classification of 'Myelodysplastic Syndrome with Isolated Del(5q)'; Prognostic Implications of Single Versus Double Cytogenetic Abnormalities." Blood 128, no. 22 (2016): 5542. http://dx.doi.org/10.1182/blood.v128.22.5542.5542.

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Abstract Background: 'Myelodysplastic syndrome (MDS) with isolated del(5q),' as defined by the World Health Organization (WHO) criteria (SwederlowSH, et al, 2008) is a unique pathological entity with favorable outcomes. The 2016 revision to the classification expands this entity to include cases that have an additional cytogenetic abnormality, with the exception of monosomy 7 or del(7q) (Arber DA, et al, Blood 2016). The objective of our study was to evaluate the prognostic impact of an additional cytogenetic abnormality, other than monosomy 7 or del(7q), in patients with 'MDS with isolated de

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