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Gene Rearrangement Abnormality

MedGen UID:
1613200
•Concept ID:
C4521446
•
Cell or Molecular Dysfunction
Synonyms: Abnormal Gene Rearrangement; Abnormal Rearrangement; Gene Rearrangement

Definition

A molecular abnormality characterized by rearrangement of a gene sequence that results in either aberrant gene expression or the translation of a novel protein. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGene Rearrangement Abnormality

Professional guidelines

PubMed

Effectiveness of ALK inhibitors in treatment of CNS metastases in NSCLC patients.
Gil M, Knetki-Wróblewska M, Niziński P, Strzemski M, Krawczyk P
Ann Med 2023 Dec;55(1):1018-1028. doi: 10.1080/07853890.2023.2187077. PMID: 36896848Free PMC Article
Endometrial stromal tumors of the uterus: Epidemiology, pathological and biological features, treatment options and clinical outcomes.
Gadducci A, Multinu F, De Vitis LA, Cosio S, Carinelli S, Aletti GD
Gynecol Oncol 2023 Apr;171:95-105. Epub 2023 Feb 24 doi: 10.1016/j.ygyno.2023.02.009. PMID: 36842409
Current treatment and future challenges in ROS1- and ALK-rearranged advanced non-small cell lung cancer.
Remon J, Pignataro D, Novello S, Passiglia F
Cancer Treat Rev 2021 Apr;95:102178. Epub 2021 Mar 10 doi: 10.1016/j.ctrv.2021.102178. PMID: 33743408

Recent clinical studies

Etiology

Distinguishing AML from MDS: a fixed blast percentage may no longer be optimal.
Estey E, Hasserjian RP, Döhner H
Blood 2022 Jan 20;139(3):323-332. doi: 10.1182/blood.2021011304. PMID: 34111285Free PMC Article
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A.
Bill M, Mrózek K, Kohlschmidt J, Eisfeld AK, Walker CJ, Nicolet D, Papaioannou D, Blachly JS, Orwick S, Carroll AJ, Kolitz JE, Powell BL, Stone RM, de la Chapelle A, Byrd JC, Bloomfield CD
Proc Natl Acad Sci U S A 2020 Oct 20;117(42):26340-26346. Epub 2020 Oct 5 doi: 10.1073/pnas.2014732117. PMID: 33020282Free PMC Article
A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions.
Antonescu CR, Agaram NP, Sung YS, Zhang L, Swanson D, Dickson BC
Am J Surg Pathol 2018 Apr;42(4):553-560. doi: 10.1097/PAS.0000000000001010. PMID: 29309307Free PMC Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group
Eur J Hum Genet 2012 Jul;20(7):754-61. Epub 2012 Feb 8 doi: 10.1038/ejhg.2012.6. PMID: 22317977Free PMC Article
Severe combined immunodeficiencies.
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500

Diagnosis

Chromosomal defects in multiple myeloma.
Clarke SE, Fuller KA, Erber WN
Blood Rev 2024 Mar;64:101168. Epub 2024 Jan 4 doi: 10.1016/j.blre.2024.101168. PMID: 38212176
Distinguishing AML from MDS: a fixed blast percentage may no longer be optimal.
Estey E, Hasserjian RP, Döhner H
Blood 2022 Jan 20;139(3):323-332. doi: 10.1182/blood.2021011304. PMID: 34111285Free PMC Article
Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes.
de Rooij JD, Branstetter C, Ma J, Li Y, Walsh MP, Cheng J, Obulkasim A, Dang J, Easton J, Verboon LJ, Mulder HL, Zimmermann M, Koss C, Gupta P, Edmonson M, Rusch M, Lim JY, Reinhardt K, Pigazzi M, Song G, Yeoh AE, Shih LY, Liang DC, Halene S, Krause DS, Zhang J, Downing JR, Locatelli F, Reinhardt D, van den Heuvel-Eibrink MM, Zwaan CM, Fornerod M, Gruber TA
Nat Genet 2017 Mar;49(3):451-456. Epub 2017 Jan 23 doi: 10.1038/ng.3772. PMID: 28112737Free PMC Article
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
Eosinophilic leukaemia.
Fletcher S, Bain B
Br Med Bull 2007;81-82:115-27. Epub 2007 Apr 18 doi: 10.1093/bmb/ldm008. PMID: 17442690

Therapy

Effectiveness of ALK inhibitors in treatment of CNS metastases in NSCLC patients.
Gil M, Knetki-Wróblewska M, Niziński P, Strzemski M, Krawczyk P
Ann Med 2023 Dec;55(1):1018-1028. doi: 10.1080/07853890.2023.2187077. PMID: 36896848Free PMC Article
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
Myeloid neoplasms with eosinophilia.
Reiter A, Gotlib J
Blood 2017 Feb 9;129(6):704-714. Epub 2016 Dec 27 doi: 10.1182/blood-2016-10-695973. PMID: 28028030
Risk factors for Down syndrome.
Coppedè F
Arch Toxicol 2016 Dec;90(12):2917-2929. Epub 2016 Sep 7 doi: 10.1007/s00204-016-1843-3. PMID: 27600794
Severe combined immunodeficiencies.
Fischer A
Immunodefic Rev 1992;3(2):83-100. PMID: 1554500

Prognosis

Chromosomal defects in multiple myeloma.
Clarke SE, Fuller KA, Erber WN
Blood Rev 2024 Mar;64:101168. Epub 2024 Jan 4 doi: 10.1016/j.blre.2024.101168. PMID: 38212176
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes.
Casado P, Rio-Machin A, Miettinen JJ, Bewicke-Copley F, Rouault-Pierre K, Krizsan S, Parsons A, Rajeeve V, Miraki-Moud F, Taussig DC, Bödör C, Gribben J, Heckman C, Fitzgibbon J, Cutillas PR
Signal Transduct Target Ther 2023 Feb 27;8(1):80. doi: 10.1038/s41392-022-01288-1. PMID: 36843114Free PMC Article
Distinguishing AML from MDS: a fixed blast percentage may no longer be optimal.
Estey E, Hasserjian RP, Döhner H
Blood 2022 Jan 20;139(3):323-332. doi: 10.1182/blood.2021011304. PMID: 34111285Free PMC Article
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A.
Bill M, Mrózek K, Kohlschmidt J, Eisfeld AK, Walker CJ, Nicolet D, Papaioannou D, Blachly JS, Orwick S, Carroll AJ, Kolitz JE, Powell BL, Stone RM, de la Chapelle A, Byrd JC, Bloomfield CD
Proc Natl Acad Sci U S A 2020 Oct 20;117(42):26340-26346. Epub 2020 Oct 5 doi: 10.1073/pnas.2014732117. PMID: 33020282Free PMC Article
Mantle cell lymphoma.
Bertoni F, Zucca E, Cavalli F
Curr Opin Hematol 2004 Nov;11(6):411-8. doi: 10.1097/01.moh.0000138682.13354.da. PMID: 15548996

Clinical prediction guides

Artificial Intelligence-Powered Prediction of ALK Gene Rearrangement in Patients With Non-Small-Cell Lung Cancer.
Terada Y, Takahashi T, Hayakawa T, Ono A, Kawata T, Isaka M, Muramatsu K, Tone K, Kodama H, Imai T, Notsu A, Mori K, Ohde Y, Nakajima T, Sugino T, Takahashi T
JCO Clin Cancer Inform 2022 Sep;6:e2200070. doi: 10.1200/CCI.22.00070. PMID: 36162012
Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, Selicorni A, Rigoldi M, Conconi D, Dalprà L, Roversi G, Bentivegna A
Int J Mol Sci 2019 Mar 4;20(5) doi: 10.3390/ijms20051095. PMID: 30836598Free PMC Article
Translocations, inversions and other chromosome rearrangements.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS
Fertil Steril 2017 Jan;107(1):19-26. Epub 2016 Oct 25 doi: 10.1016/j.fertnstert.2016.10.013. PMID: 27793378
MYC/BCL2 double-hit high-grade B-cell lymphoma.
Li S, Lin P, Young KH, Kanagal-Shamanna R, Yin CC, Medeiros LJ
Adv Anat Pathol 2013 Sep;20(5):315-26. doi: 10.1097/PAP.0b013e3182a289f2. PMID: 23939148

Recent systematic reviews

Does cell-of-origin or MYC, BCL2 or BCL6 translocation status provide prognostic information beyond the International Prognostic Index score in patients with diffuse large B-cell lymphoma treated with rituximab and chemotherapy? A systematic review.
Schmidt-Hansen M, Berendse S, Marafioti T, McNamara C
Leuk Lymphoma 2017 Oct;58(10):2403-2418. Epub 2017 Feb 9 doi: 10.1080/10428194.2017.1287364. PMID: 28278726
C-MYC aberrations as prognostic factors in diffuse large B-cell lymphoma: a meta-analysis of epidemiological studies.
Zhou K, Xu D, Cao Y, Wang J, Yang Y, Huang M
PLoS One 2014;9(4):e95020. Epub 2014 Apr 16 doi: 10.1371/journal.pone.0095020. PMID: 24740248Free PMC Article
Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.
O'Neill ID
J Hum Genet 2010 Sep;55(9):559-64. Epub 2010 Jun 24 doi: 10.1038/jhg.2010.80. PMID: 20574425
Molecular cytogenetic characterization of Sézary syndrome.
Mao X, Lillington DM, Czepulkowski B, Russell-Jones R, Young BD, Whittaker S
Genes Chromosomes Cancer 2003 Mar;36(3):250-60. doi: 10.1002/gcc.10152. PMID: 12557225

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