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Cytogenetic Abnormality

MedGen UID:
954
•Concept ID:
C0008625
•
Cell or Molecular Dysfunction
Synonyms: Aberration, Chromosomal; Aberration, Chromosome; Aberration, Cytogenetic; Aberrations, Chromosomal; Aberrations, Chromosome; Aberrations, Cytogenetic; Abnormalities, Chromosomal; Abnormalities, Chromosome; Abnormalities, Cytogenetic; Abnormality, Chromosomal; Abnormality, Chromosome; Abnormality, Cytogenetic; Chromosomal Aberration; Chromosomal Aberrations; Chromosomal Abnormalities; Chromosomal Abnormality; Chromosome Aberration; Chromosome Aberrations; Chromosome Abnormalities; Chromosome Abnormality; Cytogenetic Aberration; Cytogenetic Aberrations; Cytogenetic Abnormalities

Definition

An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCytogenetic Abnormality
Follow this link to review classifications for Cytogenetic Abnormality in Orphanet.

Professional guidelines

PubMed

Leukemic Non-nodal Mantle Cell Lymphoma: Diagnosis and Treatment.
Jain AG, Chang CC, Ahmad S, Mori S
Curr Treat Options Oncol 2019 Nov 27;20(12):85. doi: 10.1007/s11864-019-0684-8. PMID: 31776787
Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2013 Feb;88(2):141-50. doi: 10.1002/ajh.23384. PMID: 23349007
Down syndrome in India--diagnosis, screening, and prenatal diagnosis.
Verma IC, Lall M, Dua Puri R
Clin Lab Med 2012 Jun;32(2):231-48. doi: 10.1016/j.cll.2012.04.010. PMID: 22727002

Recent clinical studies

Etiology

Chromosome 1q21 abnormalities in multiple myeloma.
Schmidt TM, Fonseca R, Usmani SZ
Blood Cancer J 2021 Apr 29;11(4):83. doi: 10.1038/s41408-021-00474-8. PMID: 33927196Free PMC Article
Monosomy 7 in Pediatric Myelodysplastic Syndromes.
Wlodarski MW, Sahoo SS, Niemeyer CM
Hematol Oncol Clin North Am 2018 Aug;32(4):729-743. doi: 10.1016/j.hoc.2018.04.007. PMID: 30047423
ALK-positive anaplastic large cell lymphoma: an evolving story.
Bonzheim I, Steinhilber J, Fend F, Lamant L, Quintanilla-Martinez L
Front Biosci (Schol Ed) 2015 Jun 1;7(2):248-59. doi: 10.2741/S438. PMID: 25961700
Established and novel agents for myelodysplastic syndromes.
Sekeres MA, Gerds AT
Hematology Am Soc Hematol Educ Program 2014 Dec 5;2014(1):82-9. Epub 2014 Nov 18 doi: 10.1182/asheducation-2014.1.82. PMID: 25696839
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822

Diagnosis

Chromosome 1q21 abnormalities in multiple myeloma.
Schmidt TM, Fonseca R, Usmani SZ
Blood Cancer J 2021 Apr 29;11(4):83. doi: 10.1038/s41408-021-00474-8. PMID: 33927196Free PMC Article
Parosteal osteosarcoma.
Hang JF, Chen PC
Arch Pathol Lab Med 2014 May;138(5):694-9. doi: 10.5858/arpa.2013-0030-RS. PMID: 24786129
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822
Down syndrome in India--diagnosis, screening, and prenatal diagnosis.
Verma IC, Lall M, Dua Puri R
Clin Lab Med 2012 Jun;32(2):231-48. doi: 10.1016/j.cll.2012.04.010. PMID: 22727002
Confined placental mosaicism.
Kalousek DK, Vekemans M
J Med Genet 1996 Jul;33(7):529-33. doi: 10.1136/jmg.33.7.529. PMID: 8818935Free PMC Article

Therapy

Daratumumab Improves Depth of Response and Progression-free Survival in Transplant-ineligible, High-risk, Newly Diagnosed Multiple Myeloma.
Jakubowiak AJ, Kumar S, Medhekar R, Pei H, Lefebvre P, Kaila S, He J, Lafeuille MH, Cortoos A, Londhe A, Mavros P, Lin TS, Usmani SZ
Oncologist 2022 Jul 5;27(7):e589-e596. doi: 10.1093/oncolo/oyac067. PMID: 35462406Free PMC Article
Prognostic Significance of Complex Karyotypes in Acute Myeloid Leukemia.
Daneshbod Y, Kohan L, Taghadosi V, Weinberg OK, Arber DA
Curr Treat Options Oncol 2019 Feb 11;20(2):15. doi: 10.1007/s11864-019-0612-y. PMID: 30741367
Established and novel agents for myelodysplastic syndromes.
Sekeres MA, Gerds AT
Hematology Am Soc Hematol Educ Program 2014 Dec 5;2014(1):82-9. Epub 2014 Nov 18 doi: 10.1182/asheducation-2014.1.82. PMID: 25696839
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
Chronic myeloid leukemia.
Silver RT
Hematol Oncol Clin North Am 2003 Oct;17(5):1159-73, vi-vii. doi: 10.1016/s0889-8588(03)00088-1. PMID: 14560780

Prognosis

Chromosome 1q21 abnormalities in multiple myeloma.
Schmidt TM, Fonseca R, Usmani SZ
Blood Cancer J 2021 Apr 29;11(4):83. doi: 10.1038/s41408-021-00474-8. PMID: 33927196Free PMC Article
Cytogenetic complexity and heterogeneity in intravascular lymphoma.
Fujikura K, Yamashita D, Yoshida M, Ishikawa T, Itoh T, Imai Y
J Clin Pathol 2021 Apr;74(4):244-250. Epub 2020 Aug 6 doi: 10.1136/jclinpath-2020-206573. PMID: 32763919
Parosteal osteosarcoma.
Hang JF, Chen PC
Arch Pathol Lab Med 2014 May;138(5):694-9. doi: 10.5858/arpa.2013-0030-RS. PMID: 24786129
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822
High hyperdiploid childhood acute lymphoblastic leukemia.
Paulsson K, Johansson B
Genes Chromosomes Cancer 2009 Aug;48(8):637-60. doi: 10.1002/gcc.20671. PMID: 19415723

Clinical prediction guides

Chromosome 1q21 abnormalities in multiple myeloma.
Schmidt TM, Fonseca R, Usmani SZ
Blood Cancer J 2021 Apr 29;11(4):83. doi: 10.1038/s41408-021-00474-8. PMID: 33927196Free PMC Article
Clinical significance of cytogenetic and molecular genetic abnormalities in 634 Chinese patients with myelodysplastic syndromes.
Yan X, Wang L, Jiang L, Luo Y, Lin P, Yang W, Ren Y, Ma L, Zhou X, Mei C, Ye L, Xu G, Xu W, Yang H, Lu C, Jin J, Tong H
Cancer Med 2021 Mar;10(5):1759-1771. Epub 2021 Feb 20 doi: 10.1002/cam4.3786. PMID: 33609081Free PMC Article
Cytogenetic complexity and heterogeneity in intravascular lymphoma.
Fujikura K, Yamashita D, Yoshida M, Ishikawa T, Itoh T, Imai Y
J Clin Pathol 2021 Apr;74(4):244-250. Epub 2020 Aug 6 doi: 10.1136/jclinpath-2020-206573. PMID: 32763919
ALK-positive anaplastic large cell lymphoma: an evolving story.
Bonzheim I, Steinhilber J, Fend F, Lamant L, Quintanilla-Martinez L
Front Biosci (Schol Ed) 2015 Jun 1;7(2):248-59. doi: 10.2741/S438. PMID: 25961700
Childhood myelodysplastic syndrome.
Chatterjee T, Choudhry VP
Indian J Pediatr 2013 Sep;80(9):764-71. Epub 2013 Aug 3 doi: 10.1007/s12098-013-1130-8. PMID: 23912822

Recent systematic reviews

Alterations in chromosome 1q in multiple myeloma randomized clinical trials: a systematic review.
Neupane K, Fortuna GG, Dahal R, Schmidt T, Fonseca R, Chakraborty R, Koehn KA, Mohan M, Mian H, Costa LJ, Sborov D, Mohyuddin GR
Blood Cancer J 2024 Jan 25;14(1):20. doi: 10.1038/s41408-024-00985-0. PMID: 38272897Free PMC Article
Therapy-related acute promyelocytic leukemia: a systematic review.
Rashidi A, Fisher SI
Med Oncol 2013;30(3):625. Epub 2013 Jun 15 doi: 10.1007/s12032-013-0625-5. PMID: 23771799

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