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Chromosomal Gain

MedGen UID:
308972
•Concept ID:
C1516517
•
Cell or Molecular Dysfunction

Definition

A cytogenic abnormality that refers to gain of an entire chromosome, a chromosome arm or a chromosomal band. [from NCI]

Term Hierarchy

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

Professional guidelines

PubMed

Diagnostic criteria for oncocytic renal neoplasms: a survey of urologic pathologists.
Williamson SR, Gadde R, Trpkov K, Hirsch MS, Srigley JR, Reuter VE, Cheng L, Kunju LP, Barod R, Rogers CG, Delahunt B, Hes O, Eble JN, Zhou M, McKenney JK, Martignoni G, Fleming S, Grignon DJ, Moch H, Gupta NS
Hum Pathol 2017 May;63:149-156. Epub 2017 Mar 14 doi: 10.1016/j.humpath.2017.03.004. PMID: 28315424
MTDH is an oncogene in multiple myeloma, which is suppressed by Bortezomib treatment.
Gu C, Feng L, Peng H, Yang H, Feng Z, Yang Y
Oncotarget 2016 Jan 26;7(4):4559-69. doi: 10.18632/oncotarget.6610. PMID: 26683226Free PMC Article
Hidden chromosome 8 abnormalities detected by FISH in adult primary myelodysplastic syndromes.
Panani AD, Pappa V
In Vivo 2005 Nov-Dec;19(6):979-81. PMID: 16277010

Recent clinical studies

Etiology

Identify latent chromosomal aberrations relevant to myelodysplastic syndromes.
Song Q, Chu Y, Yao Y, Peng M, Yang W, Li X, Huang S
Sci Rep 2017 Sep 4;7(1):10354. doi: 10.1038/s41598-017-10551-3. PMID: 28871208Free PMC Article
Hyperdiploidy with 49-65 chromosomes represents a heterogeneous cytogenetic subgroup of acute myeloid leukemia with differential outcome.
Chilton L, Hills RK, Harrison CJ, Burnett AK, Grimwade D, Moorman AV
Leukemia 2014 Feb;28(2):321-8. Epub 2013 Jul 1 doi: 10.1038/leu.2013.198. PMID: 23812419
Chromosomal gain of 3q and loss of 11q often associated with nodal metastasis in early stage cervical squamous cell carcinoma.
Huang KF, Lee WY, Huang SC, Lin YS, Kang CY, Liou CP, Tzeng CC
J Formos Med Assoc 2007 Nov;106(11):894-902. doi: 10.1016/S0929-6646(08)60059-5. PMID: 18063510
Ovarian sex cord-stromal tumors in children and adolescents.
Schneider DT, Calaminus G, Harms D, Göbel U; German Maligne Keimzelltumoren Study Group
J Reprod Med 2005 Jun;50(6):439-46. PMID: 16050568
Pathological and molecular aspects of prostate cancer.
DeMarzo AM, Nelson WG, Isaacs WB, Epstein JI
Lancet 2003 Mar 15;361(9361):955-64. doi: 10.1016/S0140-6736(03)12779-1. PMID: 12648986

Diagnosis

Identify latent chromosomal aberrations relevant to myelodysplastic syndromes.
Song Q, Chu Y, Yao Y, Peng M, Yang W, Li X, Huang S
Sci Rep 2017 Sep 4;7(1):10354. doi: 10.1038/s41598-017-10551-3. PMID: 28871208Free PMC Article
The prevalence of chromosomal aberrations associated with myelodysplastic syndromes in China.
Hu Q, Chu Y, Song Q, Yao Y, Yang W, Huang S
Ann Hematol 2016 Aug;95(8):1241-8. Epub 2016 May 25 doi: 10.1007/s00277-016-2698-7. PMID: 27225263
Ovarian sex cord-stromal tumors in children and adolescents.
Schneider DT, Calaminus G, Harms D, Göbel U; German Maligne Keimzelltumoren Study Group
J Reprod Med 2005 Jun;50(6):439-46. PMID: 16050568
Pathological and molecular aspects of prostate cancer.
DeMarzo AM, Nelson WG, Isaacs WB, Epstein JI
Lancet 2003 Mar 15;361(9361):955-64. doi: 10.1016/S0140-6736(03)12779-1. PMID: 12648986
Mutation of cell cycle regulators and their impact on superficial bladder cancer.
Rabbani F, Cordon-Cardo C
Urol Clin North Am 2000 Feb;27(1):83-102, ix. doi: 10.1016/s0094-0143(05)70237-8. PMID: 10696248

Therapy

Genomic profiling of NETs: a comprehensive analysis of the RADIANT trials.
Yao J, Garg A, Chen D, Capdevila J, Engstrom P, Pommier R, Van Cutsem E, Singh S, Fazio N, He W, Riester M, Patel P, Voi M, Morrissey M, Pavel M, Kulke MH
Endocr Relat Cancer 2019 Apr 1;26(4):391-403. Epub 2019 Jan 1 doi: 10.1530/ERC-18-0332. PMID: 30667365
A Diagnostic Algorithm Combining Immunohistochemistry and Molecular Cytogenetics to Diagnose Challenging Melanocytic Tumors.
Redon S, Guibourg B, Talagas M, Marcorelles P, Uguen A
Appl Immunohistochem Mol Morphol 2018 Nov/Dec;26(10):714-720. doi: 10.1097/PAI.0000000000000511. PMID: 28362709
Causes of genome instability: the effect of low dose chemical exposures in modern society.
Langie SA, Koppen G, Desaulniers D, Al-Mulla F, Al-Temaimi R, Amedei A, Azqueta A, Bisson WH, Brown DG, Brunborg G, Charles AK, Chen T, Colacci A, Darroudi F, Forte S, Gonzalez L, Hamid RA, Knudsen LE, Leyns L, Lopez de Cerain Salsamendi A, Memeo L, Mondello C, Mothersill C, Olsen AK, Pavanello S, Raju J, Rojas E, Roy R, Ryan EP, Ostrosky-Wegman P, Salem HK, Scovassi AI, Singh N, Vaccari M, Van Schooten FJ, Valverde M, Woodrick J, Zhang L, van Larebeke N, Kirsch-Volders M, Collins AR
Carcinogenesis 2015 Jun;36 Suppl 1(Suppl 1):S61-88. doi: 10.1093/carcin/bgv031. PMID: 26106144Free PMC Article
Hyperdiploidy with 49-65 chromosomes represents a heterogeneous cytogenetic subgroup of acute myeloid leukemia with differential outcome.
Chilton L, Hills RK, Harrison CJ, Burnett AK, Grimwade D, Moorman AV
Leukemia 2014 Feb;28(2):321-8. Epub 2013 Jul 1 doi: 10.1038/leu.2013.198. PMID: 23812419
Ovarian sex cord-stromal tumors in children and adolescents.
Schneider DT, Calaminus G, Harms D, Göbel U; German Maligne Keimzelltumoren Study Group
J Reprod Med 2005 Jun;50(6):439-46. PMID: 16050568

Prognosis

Diagnostic criteria for oncocytic renal neoplasms: a survey of urologic pathologists.
Williamson SR, Gadde R, Trpkov K, Hirsch MS, Srigley JR, Reuter VE, Cheng L, Kunju LP, Barod R, Rogers CG, Delahunt B, Hes O, Eble JN, Zhou M, McKenney JK, Martignoni G, Fleming S, Grignon DJ, Moch H, Gupta NS
Hum Pathol 2017 May;63:149-156. Epub 2017 Mar 14 doi: 10.1016/j.humpath.2017.03.004. PMID: 28315424
Detection of genetic and chromosomal aberrations in medulloblastomas and primitive neuroectodermal tumors with DNA microarrays.
Kagawa N, Maruno M, Suzuki T, Hashiba T, Hashimoto N, Izumoto S, Yoshimine T
Brain Tumor Pathol 2006 Apr;23(1):41-7. doi: 10.1007/s10014-006-0201-1. PMID: 18095118
Ovarian sex cord-stromal tumors in children and adolescents.
Schneider DT, Calaminus G, Harms D, Göbel U; German Maligne Keimzelltumoren Study Group
J Reprod Med 2005 Jun;50(6):439-46. PMID: 16050568
Acute myeloid leukemia with a complex aberrant karyotype is a distinct biological entity characterized by genomic imbalances and a specific gene expression profile.
Schoch C, Kern W, Kohlmann A, Hiddemann W, Schnittger S, Haferlach T
Genes Chromosomes Cancer 2005 Jul;43(3):227-38. doi: 10.1002/gcc.20193. PMID: 15846790
Mutation of cell cycle regulators and their impact on superficial bladder cancer.
Rabbani F, Cordon-Cardo C
Urol Clin North Am 2000 Feb;27(1):83-102, ix. doi: 10.1016/s0094-0143(05)70237-8. PMID: 10696248

Clinical prediction guides

Amplification of different satellite-DNAs in prostate cancer.
Ariffen NA, Ornellas AA, Alves G, Shana'ah AM, Sharma S, Kankel S, Jamali E, Theis B, Liehr T
Pathol Res Pract 2024 Apr;256:155269. Epub 2024 Mar 21 doi: 10.1016/j.prp.2024.155269. PMID: 38522124
Genomic profiling of NETs: a comprehensive analysis of the RADIANT trials.
Yao J, Garg A, Chen D, Capdevila J, Engstrom P, Pommier R, Van Cutsem E, Singh S, Fazio N, He W, Riester M, Patel P, Voi M, Morrissey M, Pavel M, Kulke MH
Endocr Relat Cancer 2019 Apr 1;26(4):391-403. Epub 2019 Jan 1 doi: 10.1530/ERC-18-0332. PMID: 30667365
A Diagnostic Algorithm Combining Immunohistochemistry and Molecular Cytogenetics to Diagnose Challenging Melanocytic Tumors.
Redon S, Guibourg B, Talagas M, Marcorelles P, Uguen A
Appl Immunohistochem Mol Morphol 2018 Nov/Dec;26(10):714-720. doi: 10.1097/PAI.0000000000000511. PMID: 28362709
Detection of genetic and chromosomal aberrations in medulloblastomas and primitive neuroectodermal tumors with DNA microarrays.
Kagawa N, Maruno M, Suzuki T, Hashiba T, Hashimoto N, Izumoto S, Yoshimine T
Brain Tumor Pathol 2006 Apr;23(1):41-7. doi: 10.1007/s10014-006-0201-1. PMID: 18095118
Ovarian sex cord-stromal tumors in children and adolescents.
Schneider DT, Calaminus G, Harms D, Göbel U; German Maligne Keimzelltumoren Study Group
J Reprod Med 2005 Jun;50(6):439-46. PMID: 16050568

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