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Chromosomal Rearrangement

MedGen UID:
271516
•Concept ID:
C1515001
•
Cell or Molecular Dysfunction
Synonym: Chromosomal structural abnormalities

Definition

Any change in the structure of one or more chromosomes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosomal Rearrangement

Professional guidelines

PubMed

Enhancers in disease: molecular basis and emerging treatment strategies.
Claringbould A, Zaugg JB
Trends Mol Med 2021 Nov;27(11):1060-1073. Epub 2021 Aug 20 doi: 10.1016/j.molmed.2021.07.012. PMID: 34420874
An Overview of Molecular Mechanism, Clinicopathological Factors, and Treatment in NUT Carcinoma.
Huang QW, He LJ, Zheng S, Liu T, Peng BN
Biomed Res Int 2019;2019:1018439. Epub 2019 Nov 11 doi: 10.1155/2019/1018439. PMID: 31815119Free PMC Article
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Inheritance of paternal DNA damage by histone-mediated repair restriction.
Wang S, Meyer DH, Schumacher B
Nature 2023 Jan;613(7943):365-374. Epub 2022 Dec 21 doi: 10.1038/s41586-022-05544-w. PMID: 36544019Free PMC Article
Detection of ALK fusion variants by RNA-based NGS and clinical outcome correlation in NSCLC patients treated with ALK-TKI sequences.
Tabbò F, Muscarella LA, Gobbini E, Trombetta D, Castellana S, Rigutto A, Galetta D, Maiello E, Martelli O, Tiseo M, Scotti V, Ghilardi L, Gregorc V, Sergi C, Pilotto S, Del Conte A, Cappuzzo F, Cortinovis D, Osman G, Bareggi C, Di Maio M, Rossi A, Rossi G, Bria E, Volante M, Scagliotti GV, Graziano P, Novello S, Righi L
Eur J Cancer 2022 Oct;174:200-211. Epub 2022 Aug 28 doi: 10.1016/j.ejca.2022.07.026. PMID: 36044814
Chromosomal analysis for embryos from balanced chromosomal rearrangement carriers using next generation sequencing.
Ma X, Xu X, Mao B, Liu H, Li H, Liu K, Song D, Xue S, Wang N
Mol Reprod Dev 2021 May;88(5):362-370. Epub 2021 Mar 29 doi: 10.1002/mrd.23469. PMID: 33783068
CRISPR/Cas9 for the treatment of haematological diseases: a journey from bacteria to the bedside.
Humbert O, Samuelson C, Kiem HP
Br J Haematol 2021 Jan;192(1):33-49. Epub 2020 Jun 7 doi: 10.1111/bjh.16807. PMID: 32506752Free PMC Article
Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Diagnosis

Chimeric RNAs in cancer.
Shi X, Singh S, Lin E, Li H
Adv Clin Chem 2021;100:1-35. Epub 2020 May 27 doi: 10.1016/bs.acc.2020.04.001. PMID: 33453863
Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics.
Montazerinezhad S, Emamjomeh A, Hajieghrari B
Mol Biol Rep 2020 Nov;47(11):9055-9073. Epub 2020 Oct 26 doi: 10.1007/s11033-020-05895-5. PMID: 33104991
Chimeric RNAs and their implications in cancer.
Li Z, Qin F, Li H
Curr Opin Genet Dev 2018 Feb;48:36-43. Epub 2017 Nov 5 doi: 10.1016/j.gde.2017.10.002. PMID: 29100211Free PMC Article
Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Therapy

Detection of ALK fusion variants by RNA-based NGS and clinical outcome correlation in NSCLC patients treated with ALK-TKI sequences.
Tabbò F, Muscarella LA, Gobbini E, Trombetta D, Castellana S, Rigutto A, Galetta D, Maiello E, Martelli O, Tiseo M, Scotti V, Ghilardi L, Gregorc V, Sergi C, Pilotto S, Del Conte A, Cappuzzo F, Cortinovis D, Osman G, Bareggi C, Di Maio M, Rossi A, Rossi G, Bria E, Volante M, Scagliotti GV, Graziano P, Novello S, Righi L
Eur J Cancer 2022 Oct;174:200-211. Epub 2022 Aug 28 doi: 10.1016/j.ejca.2022.07.026. PMID: 36044814
Oncogenic Neuregulin 1 gene (NRG1) fusions in cancer: A potential new therapeutic opportunities.
Zhang C, Mei W, Zeng C
Biochim Biophys Acta Rev Cancer 2022 May;1877(3):188707. Epub 2022 Mar 2 doi: 10.1016/j.bbcan.2022.188707. PMID: 35247506
Mechanisms of receptor tyrosine kinase activation in cancer.
Du Z, Lovly CM
Mol Cancer 2018 Feb 19;17(1):58. doi: 10.1186/s12943-018-0782-4. PMID: 29455648Free PMC Article
Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.
Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T
Clin Genet 2017 May;91(5):653-660. Epub 2017 Feb 22 doi: 10.1111/cge.12928. PMID: 27888607
Crizotinib resistance: implications for therapeutic strategies.
Dagogo-Jack I, Shaw AT
Ann Oncol 2016 Sep;27 Suppl 3(Suppl 3):iii42-iii50. doi: 10.1093/annonc/mdw305. PMID: 27573756Free PMC Article

Prognosis

Detection of ALK fusion variants by RNA-based NGS and clinical outcome correlation in NSCLC patients treated with ALK-TKI sequences.
Tabbò F, Muscarella LA, Gobbini E, Trombetta D, Castellana S, Rigutto A, Galetta D, Maiello E, Martelli O, Tiseo M, Scotti V, Ghilardi L, Gregorc V, Sergi C, Pilotto S, Del Conte A, Cappuzzo F, Cortinovis D, Osman G, Bareggi C, Di Maio M, Rossi A, Rossi G, Bria E, Volante M, Scagliotti GV, Graziano P, Novello S, Righi L
Eur J Cancer 2022 Oct;174:200-211. Epub 2022 Aug 28 doi: 10.1016/j.ejca.2022.07.026. PMID: 36044814
Gene fusions in tumourigenesis with particular reference to ovarian cancer.
Zhou Y, El-Bahrawy M
J Med Genet 2021 Dec;58(12):789-795. Epub 2021 Aug 30 doi: 10.1136/jmedgenet-2021-108010. PMID: 34462289
Identifying fusion transcripts using next generation sequencing.
Kumar S, Razzaq SK, Vo AD, Gautam M, Li H
Wiley Interdiscip Rev RNA 2016 Nov;7(6):811-823. Epub 2016 Aug 2 doi: 10.1002/wrna.1382. PMID: 27485475Free PMC Article
Clinical prognostic biomarkers in chronic lymphocytic leukemia and diffuse large B-cell lymphoma.
Chastain EC, Duncavage EJ
Arch Pathol Lab Med 2015 May;139(5):602-7. Epub 2014 Sep 23 doi: 10.5858/arpa.2014-0086-RA. PMID: 25248094
Sequential combination of karyotyping and RNA-sequencing in the search for cancer-specific fusion genes.
Panagopoulos I, Thorsen J, Gorunova L, Micci F, Heim S
Int J Biochem Cell Biol 2014 Aug;53:462-5. Epub 2014 May 23 doi: 10.1016/j.biocel.2014.05.018. PMID: 24863361

Clinical prediction guides

Detection of ALK fusion variants by RNA-based NGS and clinical outcome correlation in NSCLC patients treated with ALK-TKI sequences.
Tabbò F, Muscarella LA, Gobbini E, Trombetta D, Castellana S, Rigutto A, Galetta D, Maiello E, Martelli O, Tiseo M, Scotti V, Ghilardi L, Gregorc V, Sergi C, Pilotto S, Del Conte A, Cappuzzo F, Cortinovis D, Osman G, Bareggi C, Di Maio M, Rossi A, Rossi G, Bria E, Volante M, Scagliotti GV, Graziano P, Novello S, Righi L
Eur J Cancer 2022 Oct;174:200-211. Epub 2022 Aug 28 doi: 10.1016/j.ejca.2022.07.026. PMID: 36044814
Gene Duplication and Gene Fusion Are Important Drivers of Tumourigenesis during Cancer Evolution.
Glenfield C, Innan H
Genes (Basel) 2021 Aug 31;12(9) doi: 10.3390/genes12091376. PMID: 34573358Free PMC Article
Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.
Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T
Clin Genet 2017 May;91(5):653-660. Epub 2017 Feb 22 doi: 10.1111/cge.12928. PMID: 27888607
Biology of double-hit B-cell lymphomas.
Lindsley RC, LaCasce AS
Curr Opin Hematol 2012 Jul;19(4):299-304. doi: 10.1097/MOH.0b013e328353bbbd. PMID: 22504522Free PMC Article
Russell-Silver syndrome.
Eggermann T
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):355-64. doi: 10.1002/ajmg.c.30274. PMID: 20803658

Recent systematic reviews

The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases.
Zedan HT, Ali FH, Zayed H
Chromosoma 2022 Sep;131(3):127-146. Epub 2022 Jul 30 doi: 10.1007/s00412-022-00775-2. PMID: 35907041Free PMC Article
Does preimplantation genetic diagnosis improve reproductive outcome in couples with recurrent pregnancy loss owing to structural chromosomal rearrangement? A systematic review.
Iews M, Tan J, Taskin O, Alfaraj S, AbdelHafez FF, Abdellah AH, Bedaiwy MA
Reprod Biomed Online 2018 Jun;36(6):677-685. Epub 2018 Mar 15 doi: 10.1016/j.rbmo.2018.03.005. PMID: 29627226
Uterine sarcoma Part II-Uterine endometrial stromal sarcoma: The TAG systematic review.
Horng HC, Wen KC, Wang PH, Chen YJ, Yen MS, Ng HT; Taiwan Association of Gynecology Systematic Review Group
Taiwan J Obstet Gynecol 2016 Aug;55(4):472-9. doi: 10.1016/j.tjog.2016.04.034. PMID: 27590366

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