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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
Primary myelofibrosis: 2012 update on diagnosis, risk stratification, and management.
Tefferi A
Am J Hematol 2011 Dec;86(12):1017-26. doi: 10.1002/ajh.22210. PMID: 22086865

Recent clinical studies

Etiology

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
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
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
Mantle cell lymphoma.
Vandenberghe E
Blood Rev 1994 Jun;8(2):79-87. doi: 10.1016/s0268-960x(05)80011-6. PMID: 7950478

Diagnosis

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
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
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
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

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
Pomalidomide therapy for multiple myeloma and myelofibrosis: an update.
Lacy MQ, Tefferi A
Leuk Lymphoma 2011 Apr;52(4):560-6. Epub 2011 Feb 21 doi: 10.3109/10428194.2011.552139. PMID: 21338284
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
Prolymphocytic leukemia.
Stone RM
Hematol Oncol Clin North Am 1990 Apr;4(2):457-71. PMID: 2182602

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
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
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
Primary cardiac synovial sarcoma.
Varma T, Adegboyega P
Arch Pathol Lab Med 2012 Apr;136(4):454-8. doi: 10.5858/arpa.2011-0008-RS. PMID: 22458908

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
Immunophenotypic, Cytogenetic and Clinical Features in Chinese Adult Acute Lymphoblastic Leukaemia (ALL) Patients.
Tong H, Wang H, Wang Q, Liu Z, Lu C
Ann Acad Med Singap 2014 Mar;43(3):152-9. PMID: 24714709
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

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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