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Loss of Chromosome 5q

MedGen UID:
275160
•Concept ID:
C1521461
•
Cell or Molecular Dysfunction
Synonyms: 5q Deletion; 5q-; del(5q)

Definition

A cytogenic abnormality that refers to loss of all or part of the long arm of chromosome 5 (5q). It is associated with the development of myelodysplastic syndrome with isolated deletion (5q), acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 5q

Professional guidelines

PubMed

Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management.
Ribeiro IP, Marques F, Caramelo F, Pereira J, Patrício M, Prazeres H, Ferrão J, Julião MJ, Castelo-Branco M, de Melo JB, Baptista IP, Carreira IM
Cell Oncol (Dordr) 2014 Feb;37(1):29-39. Epub 2013 Dec 19 doi: 10.1007/s13402-013-0161-5. PMID: 24353162
Biology and treatment of the 5q- syndrome.
Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
Small cell lung cancer: etiology, biology, clinical features, staging, and treatment.
Cook RM, Miller YE, Bunn PA Jr
Curr Probl Cancer 1993 Mar-Apr;17(2):69-141. doi: 10.1016/0147-0272(93)90010-y. PMID: 8395998

Recent clinical studies

Etiology

Different Genetic Signatures of Small-Cell Lung Cancer Characterize Anti-GABA(B) R and Anti-Hu Paraneoplastic Neurological Syndromes.
Vogrig A, Pegat A, Villagrán-García M, Wucher V, Attignon V, Sohier E, Brevet M, Rogemond V, Pinto AL, Muñiz-Castrillo S, Peter E, Robert M, Picard G, Hopes L, Psimaras D, Terra A, Perrin C, Cogne D, Tabone-Eglinger S, Martinez S, Jury D, Valantin J, Gadot N, Auclair-Perrossier J, Viari A, Dubois B, Desestret V, Honnorat J
Ann Neurol 2023 Dec;94(6):1102-1115. Epub 2023 Sep 18 doi: 10.1002/ana.26784. PMID: 37638563
Loss of 5q in myeloid malignancies - A gain in understanding of biological and clinical consequences.
Venugopal S, Mascarenhas J, Steensma DP
Blood Rev 2021 Mar;46:100735. Epub 2020 Jul 23 doi: 10.1016/j.blre.2020.100735. PMID: 32736878
The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.
Mitchell TJ, Turajlic S, Rowan A, Nicol D, Farmery JHR, O'Brien T, Martincorena I, Tarpey P, Angelopoulos N, Yates LR, Butler AP, Raine K, Stewart GD, Challacombe B, Fernando A, Lopez JI, Hazell S, Chandra A, Chowdhury S, Rudman S, Soultati A, Stamp G, Fotiadis N, Pickering L, Au L, Spain L, Lynch J, Stares M, Teague J, Maura F, Wedge DC, Horswell S, Chambers T, Litchfield K, Xu H, Stewart A, Elaidi R, Oudard S, McGranahan N, Csabai I, Gore M, Futreal PA, Larkin J, Lynch AG, Szallasi Z, Swanton C, Campbell PJ; TRACERx Renal Consortium
Cell 2018 Apr 19;173(3):611-623.e17. Epub 2018 Apr 12 doi: 10.1016/j.cell.2018.02.020. PMID: 29656891Free PMC Article
Proteogenomics connects somatic mutations to signalling in breast cancer.
Mertins P, Mani DR, Ruggles KV, Gillette MA, Clauser KR, Wang P, Wang X, Qiao JW, Cao S, Petralia F, Kawaler E, Mundt F, Krug K, Tu Z, Lei JT, Gatza ML, Wilkerson M, Perou CM, Yellapantula V, Huang KL, Lin C, McLellan MD, Yan P, Davies SR, Townsend RR, Skates SJ, Wang J, Zhang B, Kinsinger CR, Mesri M, Rodriguez H, Ding L, Paulovich AG, Fenyö D, Ellis MJ, Carr SA; NCI CPTAC
Nature 2016 Jun 2;534(7605):55-62. Epub 2016 May 25 doi: 10.1038/nature18003. PMID: 27251275Free PMC Article

Diagnosis

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A.
Gonzalez-Menendez P, Phadke I, Olive ME, Joly A, Papoin J, Yan H, Galtier J, Platon J, Kang SWS, McGraw KL, Daumur M, Pouzolles M, Kondo T, Boireau S, Paul F, Young DJ, Lamure S, Mirmira RG, Narla A, Cartron G, Dunbar CE, Boyer-Clavel M, Porat-Shliom N, Dardalhon V, Zimmermann VS, Sitbon M, Dever TE, Mohandas N, Da Costa L, Udeshi ND, Blanc L, Kinet S, Taylor N
Blood 2023 May 18;141(20):2520-2536. doi: 10.1182/blood.2022017584. PMID: 36735910Free PMC Article
Loss of 5q in myeloid malignancies - A gain in understanding of biological and clinical consequences.
Venugopal S, Mascarenhas J, Steensma DP
Blood Rev 2021 Mar;46:100735. Epub 2020 Jul 23 doi: 10.1016/j.blre.2020.100735. PMID: 32736878
Asthma severity, nature or nurture: genetic determinants.
Raby BA
Curr Opin Pediatr 2019 Jun;31(3):340-348. doi: 10.1097/MOP.0000000000000758. PMID: 31090575
Biology and treatment of the 5q- syndrome.
Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
The usher syndromes.
Keats BJ, Corey DP
Am J Med Genet 1999 Sep 24;89(3):158-66. PMID: 10704190

Therapy

Identification of Lenalidomide Sensitivity and Resistance Mechanisms in Non-Del(5q) Myelodysplastic Syndromes.
Drusbosky LM, Cogle CR
Int J Mol Sci 2020 May 8;21(9) doi: 10.3390/ijms21093323. PMID: 32397113Free PMC Article
CK1α and IRF4 are essential and independent effectors of immunomodulatory drugs in primary effusion lymphoma.
Patil A, Manzano M, Gottwein E
Blood 2018 Aug 9;132(6):577-586. Epub 2018 Jun 28 doi: 10.1182/blood-2018-01-828418. PMID: 29954751Free PMC Article
Deletion 5q MDS: molecular and therapeutic implications.
Komrokji RS, Padron E, Ebert BL, List AF
Best Pract Res Clin Haematol 2013 Dec;26(4):365-75. Epub 2013 Oct 16 doi: 10.1016/j.beha.2013.10.013. PMID: 24507813
Biology and treatment of the 5q- syndrome.
Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779
The 5q- syndrome.
Giagounidis AA, Germing U, Wainscoat JS, Boultwood J, Aul C
Hematology 2004 Aug;9(4):271-7. doi: 10.1080/10245330410001723824. PMID: 15621734

Prognosis

Proteogenomic characterization of small cell lung cancer identifies biological insights and subtype-specific therapeutic strategies.
Liu Q, Zhang J, Guo C, Wang M, Wang C, Yan Y, Sun L, Wang D, Zhang L, Yu H, Hou L, Wu C, Zhu Y, Jiang G, Zhu H, Zhou Y, Fang S, Zhang T, Hu L, Li J, Liu Y, Zhang H, Zhang B, Ding L, Robles AI, Rodriguez H, Gao D, Ji H, Zhou H, Zhang P
Cell 2024 Jan 4;187(1):184-203.e28. doi: 10.1016/j.cell.2023.12.004. PMID: 38181741
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V, Palomo L, Walter W, Mallo M, Hutter S, La Framboise T, Arenillas L, Meggendorfer M, Radivoyevitch T, Xicoy B, Pellagatti A, Haferlach C, Boultwood J, Kern W, Visconte V, Sekeres M, Barnard J, Haferlach T, Solé F, Maciejewski JP
EBioMedicine 2022 Jun;80:104059. Epub 2022 May 23 doi: 10.1016/j.ebiom.2022.104059. PMID: 35617825Free PMC Article
The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
Recurrent Cytogenetic Abnormalities in Myelodysplastic Syndromes.
Wall M
Methods Mol Biol 2017;1541:209-222. doi: 10.1007/978-1-4939-6703-2_18. PMID: 27910026
Biology and treatment of the 5q- syndrome.
Padron E, Komrokji R, List AF
Expert Rev Hematol 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. PMID: 21322779

Clinical prediction guides

Proteogenomic characterization of small cell lung cancer identifies biological insights and subtype-specific therapeutic strategies.
Liu Q, Zhang J, Guo C, Wang M, Wang C, Yan Y, Sun L, Wang D, Zhang L, Yu H, Hou L, Wu C, Zhu Y, Jiang G, Zhu H, Zhou Y, Fang S, Zhang T, Hu L, Li J, Liu Y, Zhang H, Zhang B, Ding L, Robles AI, Rodriguez H, Gao D, Ji H, Zhou H, Zhang P
Cell 2024 Jan 4;187(1):184-203.e28. doi: 10.1016/j.cell.2023.12.004. PMID: 38181741
Different Genetic Signatures of Small-Cell Lung Cancer Characterize Anti-GABA(B) R and Anti-Hu Paraneoplastic Neurological Syndromes.
Vogrig A, Pegat A, Villagrán-García M, Wucher V, Attignon V, Sohier E, Brevet M, Rogemond V, Pinto AL, Muñiz-Castrillo S, Peter E, Robert M, Picard G, Hopes L, Psimaras D, Terra A, Perrin C, Cogne D, Tabone-Eglinger S, Martinez S, Jury D, Valantin J, Gadot N, Auclair-Perrossier J, Viari A, Dubois B, Desestret V, Honnorat J
Ann Neurol 2023 Dec;94(6):1102-1115. Epub 2023 Sep 18 doi: 10.1002/ana.26784. PMID: 37638563
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Adema V, Palomo L, Walter W, Mallo M, Hutter S, La Framboise T, Arenillas L, Meggendorfer M, Radivoyevitch T, Xicoy B, Pellagatti A, Haferlach C, Boultwood J, Kern W, Visconte V, Sekeres M, Barnard J, Haferlach T, Solé F, Maciejewski JP
EBioMedicine 2022 Jun;80:104059. Epub 2022 May 23 doi: 10.1016/j.ebiom.2022.104059. PMID: 35617825Free PMC Article
The genetic and molecular pathogenesis of myelodysplastic syndromes.
Shallis RM, Ahmad R, Zeidan AM
Eur J Haematol 2018 Sep;101(3):260-271. Epub 2018 Jul 12 doi: 10.1111/ejh.13092. PMID: 29742289
Recurrent Cytogenetic Abnormalities in Myelodysplastic Syndromes.
Wall M
Methods Mol Biol 2017;1541:209-222. doi: 10.1007/978-1-4939-6703-2_18. PMID: 27910026

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