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Gain of Chromosome 12q

MedGen UID:
309188
•Concept ID:
C1517384
•
Cell or Molecular Dysfunction

Definition

A chromosomal aberration where there are 3 copies of the long arm of chromosome 12. This aberration is associated with 12q duplication syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGain of Chromosome 12q

Professional guidelines

PubMed

Familial/bilateral and sporadic testicular germ cell tumors show frequent genetic changes at loci with suggestive linkage evidence.
Skotheim RI, Kraggerud SM, Fosså SD, Stenwig AE, Gedde-Dahl T Jr, Danielsen HE, Jakobsen KS, Lothe RA
Neoplasia 2001 May-Jun;3(3):196-203. doi: 10.1038/sj.neo.7900153. PMID: 11494113Free PMC Article

Recent clinical studies

Etiology

Subgroup-specific prognostic signaling and metabolic pathways in pediatric medulloblastoma.
Park AK, Lee JY, Cheong H, Ramaswamy V, Park SH, Kool M, Phi JH, Choi SA, Cavalli F, Taylor MD, Kim SK
BMC Cancer 2019 Jun 11;19(1):571. doi: 10.1186/s12885-019-5742-x. PMID: 31185958Free PMC Article
Copy-neutral loss of heterozygosity and chromosome gains and losses are frequent in gastrointestinal stromal tumors.
Lourenço N, Hélias-Rodzewicz Z, Bachet JB, Brahimi-Adouane S, Jardin F, Tran van Nhieu J, Peschaud F, Martin E, Beauchet A, Chibon F, Emile JF
Mol Cancer 2014 Nov 6;13:246. doi: 10.1186/1476-4598-13-246. PMID: 25373456Free PMC Article
Review of papillary renal cell carcinoma with focus on clinical and pathobiological aspects.
Kuroda N, Toi M, Hiroi M, Enzan H
Histol Histopathol 2003 Apr;18(2):487-94. doi: 10.14670/HH-18.487. PMID: 12647800
Identification of extensive genomic loss and gain by comparative genomic hybridisation in malignant astrocytoma in children and young adults.
Warr T, Ward S, Burrows J, Harding B, Wilkins P, Harkness W, Hayward R, Darling J, Thomas D
Genes Chromosomes Cancer 2001 May;31(1):15-22. doi: 10.1002/gcc.1113. PMID: 11284031
Duplication of chromosome segment 12q15-24 is associated with atypical lipomatous tumors: a report of the CHAMP collaborative study group. CHromosomes And MorPhology.
Mandahl N, Akerman M, Aman P, Dal Cin P, De Wever I, Fletcher CD, Mertens F, Mitelman F, Rosai J, Rydholm A, Sciot R, Tallini G, Van den Berghe H, Van de Ven W, Vanni R, Willén H
Int J Cancer 1996 Sep 4;67(5):632-5. doi: 10.1002/(SICI)1097-0215(19960904)67:5<632::AID-IJC7>3.0.CO;2-V. PMID: 8782650

Diagnosis

Subgroup-specific prognostic signaling and metabolic pathways in pediatric medulloblastoma.
Park AK, Lee JY, Cheong H, Ramaswamy V, Park SH, Kool M, Phi JH, Choi SA, Cavalli F, Taylor MD, Kim SK
BMC Cancer 2019 Jun 11;19(1):571. doi: 10.1186/s12885-019-5742-x. PMID: 31185958Free PMC Article
Atypical teratoid/rhabdoid tumor of the brain in an adult with 22q deletion but no absence of INI1 protein: a case report and review of the literature.
Jin S, Sun C, Yu S, Wang Q, An T, Wen Y
Folia Neuropathol 2015;53(1):80-5. doi: 10.5114/fn.2015.49977. PMID: 25909878
Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis.
Chen CP, Su YN, Su JW, Chern SR, Chen YT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2013 Mar;52(1):97-105. doi: 10.1016/j.tjog.2013.01.012. PMID: 23548227
Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome.
Peng HH, Wang TH, Hsueh DW, Chang SD, Soong YK
Prenat Diagn 2005 Jun;25(6):470-4. doi: 10.1002/pd.1164. PMID: 15966037
Review of papillary renal cell carcinoma with focus on clinical and pathobiological aspects.
Kuroda N, Toi M, Hiroi M, Enzan H
Histol Histopathol 2003 Apr;18(2):487-94. doi: 10.14670/HH-18.487. PMID: 12647800

Therapy

cDNA array-CGH profiling identifies genomic alterations specific to stage and MYCN-amplification in neuroblastoma.
Chen QR, Bilke S, Wei JS, Whiteford CC, Cenacchi N, Krasnoselsky AL, Greer BT, Son CG, Westermann F, Berthold F, Schwab M, Catchpoole D, Khan J
BMC Genomics 2004 Sep 20;5:70. doi: 10.1186/1471-2164-5-70. PMID: 15380028Free PMC Article
Chromosomal aberrations of primary lung adenocarcinomas in nonsmokers.
Wong MP, Fung LF, Wang E, Chow WS, Chiu SW, Lam WK, Ho KK, Ma ES, Wan TS, Chung LP
Cancer 2003 Mar 1;97(5):1263-70. doi: 10.1002/cncr.11183. PMID: 12599234

Prognosis

Subgroup-specific prognostic signaling and metabolic pathways in pediatric medulloblastoma.
Park AK, Lee JY, Cheong H, Ramaswamy V, Park SH, Kool M, Phi JH, Choi SA, Cavalli F, Taylor MD, Kim SK
BMC Cancer 2019 Jun 11;19(1):571. doi: 10.1186/s12885-019-5742-x. PMID: 31185958Free PMC Article
Genomic imbalances in human leukemia and lymphoma detected by comparative genomic hybridization (Review).
Gebhart E
Int J Oncol 2005 Sep;27(3):593-606. PMID: 16077907
Review of papillary renal cell carcinoma with focus on clinical and pathobiological aspects.
Kuroda N, Toi M, Hiroi M, Enzan H
Histol Histopathol 2003 Apr;18(2):487-94. doi: 10.14670/HH-18.487. PMID: 12647800
Gains of 12q are the most frequent genomic imbalances in adult fibrosarcoma and are correlated with a poor outcome.
Schmidt H, Taubert H, Würl P, Kappler M, Lange H, Bartel F, Bache M, Holzhausen HJ, Hinze R
Genes Chromosomes Cancer 2002 May;34(1):69-77. doi: 10.1002/gcc.10036. PMID: 11921284
Identification of novel regions of amplification and deletion within mantle cell lymphoma DNA by comparative genomic hybridization.
Allen JE, Hough RE, Goepel JR, Bottomley S, Wilson GA, Alcock HE, Baird M, Lorigan PC, Vandenberghe EA, Hancock BW, Hammond DW
Br J Haematol 2002 Feb;116(2):291-8. doi: 10.1046/j.1365-2141.2002.03260.x. PMID: 11841429

Clinical prediction guides

SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain.
Sinclair PB, Ryan S, Bashton M, Hollern S, Hanna R, Case M, Schwalbe EC, Schwab CJ, Cranston RE, Young BD, Irving JAE, Vora AJ, Moorman AV, Harrison CJ
Leukemia 2019 Aug;33(8):1881-1894. Epub 2019 Feb 28 doi: 10.1038/s41375-019-0412-1. PMID: 30816328Free PMC Article
Genomewide copy number analysis of Müllerian adenosarcoma identified chromosomal instability in the aggressive subgroup.
Lee JC, Lu TP, Changou CA, Liang CW, Huang HN, Lauria A, Huang HY, Lin CY, Chiang YC, Davidson B, Lin MC, Kuo KT
Mod Pathol 2016 Sep;29(9):1070-82. Epub 2016 Jun 3 doi: 10.1038/modpathol.2016.99. PMID: 27255164
Gains of 12q are the most frequent genomic imbalances in adult fibrosarcoma and are correlated with a poor outcome.
Schmidt H, Taubert H, Würl P, Kappler M, Lange H, Bartel F, Bache M, Holzhausen HJ, Hinze R
Genes Chromosomes Cancer 2002 May;34(1):69-77. doi: 10.1002/gcc.10036. PMID: 11921284
Identification of extensive genomic loss and gain by comparative genomic hybridisation in malignant astrocytoma in children and young adults.
Warr T, Ward S, Burrows J, Harding B, Wilkins P, Harkness W, Hayward R, Darling J, Thomas D
Genes Chromosomes Cancer 2001 May;31(1):15-22. doi: 10.1002/gcc.1113. PMID: 11284031
Molecular changes during the genesis of human gliomas.
Sehgal A
Semin Surg Oncol 1998 Jan-Feb;14(1):3-12. doi: 10.1002/(sici)1098-2388(199801/02)14:1<3::aid-ssu2>3.0.co;2-f. PMID: 9407626

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