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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

Unraveling Triple-Negative Breast Cancer Tumor Microenvironment Heterogeneity: Towards an Optimized Treatment Approach.
Bareche Y, Buisseret L, Gruosso T, Girard E, Venet D, Dupont F, Desmedt C, Larsimont D, Park M, Rothé F, Stagg J, Sotiriou C
J Natl Cancer Inst 2020 Jul 1;112(7):708-719. doi: 10.1093/jnci/djz208. PMID: 31665482Free PMC Article
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

Recent clinical studies

Etiology

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
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

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
Lamin B1 deletion in myeloid neoplasms causes nuclear anomaly and altered hematopoietic stem cell function.
Reilly A, Philip Creamer J, Stewart S, Stolla MC, Wang Y, Du J, Wellington R, Busch S, Estey EH, Becker PS, Fang M, Keel SB, Abkowitz JL, Soma LA, Ma J, Duan Z, Doulatov S
Cell Stem Cell 2022 Apr 7;29(4):577-592.e8. Epub 2022 Mar 11 doi: 10.1016/j.stem.2022.02.010. PMID: 35278369Free 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
The functional mechanisms of mutations in myelodysplastic syndrome.
Nagata Y, Maciejewski JP
Leukemia 2019 Dec;33(12):2779-2794. Epub 2019 Oct 31 doi: 10.1038/s41375-019-0617-3. PMID: 31673113Free PMC Article
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
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
Two different classes of therapy-related and de-novo acute myeloid leukemia?
Pedersen-Bjergaard J, Philip P
Cancer Genet Cytogenet 1991 Aug;55(1):119-24. doi: 10.1016/0165-4608(91)90246-q. PMID: 1655239

Prognosis

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
The molecular pathogenesis of the myelodysplastic syndromes.
Pellagatti A, Boultwood J
Eur J Haematol 2015 Jul;95(1):3-15. Epub 2015 Feb 20 doi: 10.1111/ejh.12515. PMID: 25645650
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

Clinical prediction guides

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
Chromosomal deletions in myelodysplasia.
Boultwood J, Fidler C
Leuk Lymphoma 1995 Mar;17(1-2):71-8. doi: 10.3109/10428199509051705. PMID: 7773164
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

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