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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
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Lei TY, Fu F, Li R, Wang D, Wang RY, Jing XY, Deng Q, Li ZZ, Liu ZQ, Yang X, Li DZ, Liao C
Nephrol Dial Transplant 2017 Oct 1;32(10):1665-1675. doi: 10.1093/ndt/gfx031. PMID: 28387813
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I
Prenat Diagn 2012 Apr;32(4):351-61. doi: 10.1002/pd.3861. PMID: 22467166

Recent clinical studies

Etiology

Therapy-related myeloid neoplasms in 109 patients after radiation monotherapy.
Patel AA, Rojek AE, Drazer MW, Weiner H, Godley LA, Le Beau MM, Larson RA
Blood Adv 2021 Oct 26;5(20):4140-4148. doi: 10.1182/bloodadvances.2021004964. PMID: 34492705Free 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
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
Lipoblastoma and lipoblastomatosis.
Bourelle S, Viehweger E, Launay F, Quilichini B, Bouvier C, Hagemeijer A, Jouve JL, Bollini G
J Pediatr Orthop B 2006 Sep;15(5):356-61. doi: 10.1097/01202412-200609000-00010. PMID: 16891964
Chromosomal abnormalities in acute leukemias.
Glassman AB
Clin Lab Med 2000 Mar;20(1):39-48. PMID: 10702895

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
Pediatric acute myeloid leukemia with t(7;21)(p22;q22).
Paulraj P, Diamond S, Razzaqi F, Ozeran JD, Longhurst M, Andersen EF, Toydemir RM, Hong B
Genes Chromosomes Cancer 2019 Aug;58(8):551-557. Epub 2019 Feb 14 doi: 10.1002/gcc.22740. PMID: 30706625
Molecular basis of chronic lymphocytic leukemia diagnosis and prognosis.
Shahjahani M, Mohammadiasl J, Noroozi F, Seghatoleslami M, Shahrabi S, Saba F, Saki N
Cell Oncol (Dordr) 2015 Apr;38(2):93-109. Epub 2015 Jan 7 doi: 10.1007/s13402-014-0215-3. PMID: 25563586
Lipoblastoma and lipoblastomatosis.
Bourelle S, Viehweger E, Launay F, Quilichini B, Bouvier C, Hagemeijer A, Jouve JL, Bollini G
J Pediatr Orthop B 2006 Sep;15(5):356-61. doi: 10.1097/01202412-200609000-00010. PMID: 16891964
Cytogenetic aspects of adult primary myelodysplastic syndromes: clinical implications.
Panani AD, Roussos C
Cancer Lett 2006 Apr 28;235(2):177-90. Epub 2005 Jun 2 doi: 10.1016/j.canlet.2005.04.011. PMID: 15935553

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
Frequent chromatin rearrangements in myelodysplastic syndromes--what stands behind?
Pagáčová E, Falk M, Falková I, Lukášová E, Michalová K, Oltová A, Raška I, Kozubek S
Folia Biol (Praha) 2014;60 Suppl 1:1-7. PMID: 25369334
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
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
Chemotherapy of secondary leukemias.
Visani G, Pagano L, Pulsoni A, Tosi P, Piccaluga PP, Pastano R, Grafone T, Malagola M, Isidori A, Tura S
Leuk Lymphoma 2000 May;37(5-6):543-9. doi: 10.3109/10428190009058506. PMID: 11042514

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
Cytogenetic aspects of adult primary myelodysplastic syndromes: clinical implications.
Panani AD, Roussos C
Cancer Lett 2006 Apr 28;235(2):177-90. Epub 2005 Jun 2 doi: 10.1016/j.canlet.2005.04.011. PMID: 15935553
Chemotherapy of secondary leukemias.
Visani G, Pagano L, Pulsoni A, Tosi P, Piccaluga PP, Pastano R, Grafone T, Malagola M, Isidori A, Tura S
Leuk Lymphoma 2000 May;37(5-6):543-9. doi: 10.3109/10428190009058506. PMID: 11042514

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
The incidence of myelodysplastic syndromes in Western Greece is increasing.
Avgerinou C, Alamanos Y, Zikos P, Lampropoulou P, Melachrinou M, Labropoulou V, Tavernarakis I, Aktypi A, Kaiafas P, Raptis C, Kouraklis A, Karakantza M, Symeonidis A
Ann Hematol 2013 Jul;92(7):877-87. Epub 2013 Apr 10 doi: 10.1007/s00277-013-1712-6. PMID: 23572136Free PMC Article
Lenalidomide in myelodysplastic syndrome and multiple myeloma.
Shah SR, Tran TM
Drugs 2007;67(13):1869-81. doi: 10.2165/00003495-200767130-00005. PMID: 17722955
Cytogenetic analysis in the examination of solid tumors in children.
Mertens F, Mandahl N, Mitelman F, Heim S
Pediatr Hematol Oncol 1994 Jul-Aug;11(4):361-77. doi: 10.3109/08880019409140536. PMID: 7947009
The genetics of retinoblastoma. Relevance to the patient.
Gallie BL, Dunn JM, Chan HS, Hamel PA, Phillips RA
Pediatr Clin North Am 1991 Apr;38(2):299-315. doi: 10.1016/s0031-3955(16)38079-8. PMID: 2006079

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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