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Monosomy 5

MedGen UID:
270786
•Concept ID:
C1513481
•
Cell or Molecular Dysfunction

Definition

A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonosomy 5

Professional guidelines

PubMed

Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes.
Tinsley-Vance SM, Ali NA, Ball S, Aguirre LE, Jain AG, Hussaini MO, Chan O, Kuykendall A, Sweet K, Lancet J, Padron E, Sallman DA, Komrokji RS
Clin Lymphoma Myeloma Leuk 2023 May;23(5):355-359. Epub 2023 Jan 16 doi: 10.1016/j.clml.2023.01.007. PMID: 36813626Free PMC Article
Genetic abnormalities in leukemia secondary to treatment in patients with Hodgkin's disease.
Salas C, Pérez-Vera P, Frías S
Rev Invest Clin 2011 Jan-Feb;63(1):53-63. PMID: 21574543
Systematic screening at diagnosis of -5/del(5)(q31), -7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics.
Beyer V, Castagné C, Mühlematter D, Parlier V, Gmür J, Hess U, Kovacsovics T, Meyer-Monard S, Tichelli A, Tobler A, Jacky E, Schanz U, Bargetzi M, Hagemeijer A, de Witte T, van Melle G, Jotterand M
Cancer Genet Cytogenet 2004 Jul 1;152(1):29-41. doi: 10.1016/j.cancergencyto.2003.10.005. PMID: 15193439

Recent clinical studies

Etiology

Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes.
Tinsley-Vance SM, Ali NA, Ball S, Aguirre LE, Jain AG, Hussaini MO, Chan O, Kuykendall A, Sweet K, Lancet J, Padron E, Sallman DA, Komrokji RS
Clin Lymphoma Myeloma Leuk 2023 May;23(5):355-359. Epub 2023 Jan 16 doi: 10.1016/j.clml.2023.01.007. PMID: 36813626Free PMC Article
Independent Prognostic Significance of Monosomy 17 and Impact of Karyotype Complexity in Monosomal Karyotype/Complex Karyotype Acute Myeloid Leukemia: Results from Four ECOG-ACRIN Prospective Therapeutic Trials.
Strickland SA, Sun Z, Ketterling RP, Cherry AM, Cripe LD, Dewald G, Fernandez HF, Hicks GA, Higgins RR, Lazarus HM, Litzow MR, Luger SM, Paietta EM, Rowe JM, Vance GH, Wiernik P, Wiktor AE, Zhang Y, Tallman MS; ECOG-ACRIN Cancer Research Group
Leuk Res 2017 Aug;59:55-64. Epub 2017 May 12 doi: 10.1016/j.leukres.2017.05.010. PMID: 28551161Free PMC Article
Myelodysplastic syndrome with chromosome 5 abnormalities: a nationwide survey in Japan.
Tasaka T, Tohyama K, Kishimoto M, Ohyashiki K, Mitani K, Hotta T, Kanamaru A, Okamoto S, Karasawa M, Kimura A, Tomonaga M, Uchiyama T, Ozawa K; Japanese Cooperative Study Group for Intractable Bone Marrow Diseases
Leukemia 2008 Oct;22(10):1874-81. Epub 2008 Jul 31 doi: 10.1038/leu.2008.199. PMID: 18668133
Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene.
Zhang L, Rothman N, Wang Y, Hayes RB, Li G, Dosemeci M, Yin S, Kolachana P, Titenko-Holland N, Smith MT
Carcinogenesis 1998 Nov;19(11):1955-61. doi: 10.1093/carcin/19.11.1955. PMID: 9855009
Occupational history and involvement of chromosomes 5 and 7 in acute nonlymphocytic leukemia.
Narod SA, Dubé ID
Cancer Genet Cytogenet 1989 Apr;38(2):261-9. doi: 10.1016/0165-4608(89)90668-7. PMID: 2655887

Diagnosis

Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes.
Tinsley-Vance SM, Ali NA, Ball S, Aguirre LE, Jain AG, Hussaini MO, Chan O, Kuykendall A, Sweet K, Lancet J, Padron E, Sallman DA, Komrokji RS
Clin Lymphoma Myeloma Leuk 2023 May;23(5):355-359. Epub 2023 Jan 16 doi: 10.1016/j.clml.2023.01.007. PMID: 36813626Free PMC Article
Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature.
Zheng F, Jia Y, Zhang L, Qin J
J Pediatr Hematol Oncol 2022 Mar 1;44(2):e580-e584. doi: 10.1097/MPH.0000000000002273. PMID: 34862352
Validation of Fluorescence In Situ Hybridization (FISH) for Chromosome 5 Monosomy and Deletion.
Zneimer SM
Curr Protoc Hum Genet 2020 Mar;105(1):e96. doi: 10.1002/cphg.96. PMID: 31922364
Does monosomy 5 really exist in myelodysplastic syndromes and acute myeloid leukemia?
Galván AB, Mallo M, Arenillas L, Salido M, Espinet B, Pedro C, Florensa L, Serrano S, Solé F
Leuk Res 2010 Sep;34(9):1242-5. Epub 2010 Apr 1 doi: 10.1016/j.leukres.2010.03.022. PMID: 20362335
Occupational history and involvement of chromosomes 5 and 7 in acute nonlymphocytic leukemia.
Narod SA, Dubé ID
Cancer Genet Cytogenet 1989 Apr;38(2):261-9. doi: 10.1016/0165-4608(89)90668-7. PMID: 2655887

Therapy

GINGIVAL ULCERATIONS IN A PATIENT WITH ACUTE MYELOID LEUKEMIA: A case report and literature review.
Vučićević Boras V, Vidović Juras D, Aurer I, Bašić-Kinda S, Mikulić M
Acta Clin Croat 2019 Sep;58(3):556-560. doi: 10.20471/acc.2019.58.03.23. PMID: 31969772Free PMC Article
Genetic abnormalities in leukemia secondary to treatment in patients with Hodgkin's disease.
Salas C, Pérez-Vera P, Frías S
Rev Invest Clin 2011 Jan-Feb;63(1):53-63. PMID: 21574543
Therapy-related myelodysplasia and secondary acute myelogenous leukemia after high-dose therapy with autologous hematopoietic progenitor-cell support for lymphoid malignancies.
Micallef IN, Lillington DM, Apostolidis J, Amess JA, Neat M, Matthews J, Clark T, Foran JM, Salam A, Lister TA, Rohatiner AZ
J Clin Oncol 2000 Mar;18(5):947-55. doi: 10.1200/JCO.2000.18.5.947. PMID: 10694543
Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene.
Zhang L, Rothman N, Wang Y, Hayes RB, Li G, Dosemeci M, Yin S, Kolachana P, Titenko-Holland N, Smith MT
Carcinogenesis 1998 Nov;19(11):1955-61. doi: 10.1093/carcin/19.11.1955. PMID: 9855009
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

Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes.
Tinsley-Vance SM, Ali NA, Ball S, Aguirre LE, Jain AG, Hussaini MO, Chan O, Kuykendall A, Sweet K, Lancet J, Padron E, Sallman DA, Komrokji RS
Clin Lymphoma Myeloma Leuk 2023 May;23(5):355-359. Epub 2023 Jan 16 doi: 10.1016/j.clml.2023.01.007. PMID: 36813626Free PMC Article
Molecular predictors of immunophenotypic measurable residual disease clearance in acute myeloid leukemia.
Stahl M, Derkach A, Farnoud N, Bewersdorf JP, Robinson T, Famulare C, Cho C, Devlin S, Menghrajani K, Patel MA, Cai SF, Miles LA, Bowman RL, Geyer MB, Dunbar A, Epstein-Peterson ZD, McGovern E, Schulman J, Glass JL, Taylor J, Viny AD, Stein EM, Getta B, Arcila ME, Gao Q, Barker J, Shaffer BC, Papadopoulos EB, Gyurkocza B, Perales MA, Abdel-Wahab O, Levine RL, Giralt SA, Zhang Y, Xiao W, Pai N, Papaemmanuil E, Tallman MS, Roshal M, Goldberg AD
Am J Hematol 2023 Jan;98(1):79-89. Epub 2022 Oct 31 doi: 10.1002/ajh.26757. PMID: 36251406Free PMC Article
GINGIVAL ULCERATIONS IN A PATIENT WITH ACUTE MYELOID LEUKEMIA: A case report and literature review.
Vučićević Boras V, Vidović Juras D, Aurer I, Bašić-Kinda S, Mikulić M
Acta Clin Croat 2019 Sep;58(3):556-560. doi: 10.20471/acc.2019.58.03.23. PMID: 31969772Free PMC Article
Does monosomy 5 really exist in myelodysplastic syndromes and acute myeloid leukemia?
Galván AB, Mallo M, Arenillas L, Salido M, Espinet B, Pedro C, Florensa L, Serrano S, Solé F
Leuk Res 2010 Sep;34(9):1242-5. Epub 2010 Apr 1 doi: 10.1016/j.leukres.2010.03.022. PMID: 20362335
The heterogeneous prognosis of patients with myelodysplastic syndrome and chromosome 5 abnormalities: how does it relate to the original lenalidomide experience in MDS?
Kantarjian H, O'Brien S, Ravandi F, Borthakur G, Faderl S, Bueso-Ramos C, Abruzzo L, Pierce S, Shan J, Issa JP, Garcia-Manero G
Cancer 2009 Nov 15;115(22):5202-9. doi: 10.1002/cncr.24575. PMID: 19691096Free PMC Article

Clinical prediction guides

Molecular predictors of immunophenotypic measurable residual disease clearance in acute myeloid leukemia.
Stahl M, Derkach A, Farnoud N, Bewersdorf JP, Robinson T, Famulare C, Cho C, Devlin S, Menghrajani K, Patel MA, Cai SF, Miles LA, Bowman RL, Geyer MB, Dunbar A, Epstein-Peterson ZD, McGovern E, Schulman J, Glass JL, Taylor J, Viny AD, Stein EM, Getta B, Arcila ME, Gao Q, Barker J, Shaffer BC, Papadopoulos EB, Gyurkocza B, Perales MA, Abdel-Wahab O, Levine RL, Giralt SA, Zhang Y, Xiao W, Pai N, Papaemmanuil E, Tallman MS, Roshal M, Goldberg AD
Am J Hematol 2023 Jan;98(1):79-89. Epub 2022 Oct 31 doi: 10.1002/ajh.26757. PMID: 36251406Free PMC Article
Spectrum of Myelodysplastic Syndrome in Patients Evaluated for Cytopenia(s). A Report from a Reference Centre in Saudi Arabia.
AlMozain N, Mashi A, Alneami Q, Al-Omran A, Bakshi N, Owaidah T, Khalil S, Khogeer H, Hashmi S, Al-Sweedan S, Morris T, AlNounou R
Hematol Oncol Stem Cell Ther 2022 Jun 1;15(2):39-44. doi: 10.1016/j.hemonc.2020.11.001. PMID: 33227261
Independent Prognostic Significance of Monosomy 17 and Impact of Karyotype Complexity in Monosomal Karyotype/Complex Karyotype Acute Myeloid Leukemia: Results from Four ECOG-ACRIN Prospective Therapeutic Trials.
Strickland SA, Sun Z, Ketterling RP, Cherry AM, Cripe LD, Dewald G, Fernandez HF, Hicks GA, Higgins RR, Lazarus HM, Litzow MR, Luger SM, Paietta EM, Rowe JM, Vance GH, Wiernik P, Wiktor AE, Zhang Y, Tallman MS; ECOG-ACRIN Cancer Research Group
Leuk Res 2017 Aug;59:55-64. Epub 2017 May 12 doi: 10.1016/j.leukres.2017.05.010. PMID: 28551161Free PMC Article
Myelodysplastic syndrome with chromosome 5 abnormalities: a nationwide survey in Japan.
Tasaka T, Tohyama K, Kishimoto M, Ohyashiki K, Mitani K, Hotta T, Kanamaru A, Okamoto S, Karasawa M, Kimura A, Tomonaga M, Uchiyama T, Ozawa K; Japanese Cooperative Study Group for Intractable Bone Marrow Diseases
Leukemia 2008 Oct;22(10):1874-81. Epub 2008 Jul 31 doi: 10.1038/leu.2008.199. PMID: 18668133
Is monosomy 5 an uncommon aberration? Fluorescence in situ hybridization reveals translocations and deletions in myelodysplastic syndromes or acute myelocytic leukemia.
Bram S, Swolin B, Rödjer S, Stockelberg D, Ogärd I, Bäck H
Cancer Genet Cytogenet 2003 Apr 15;142(2):107-14. doi: 10.1016/s0165-4608(02)00836-1. PMID: 12699885

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