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Loss of Chromosome 12q

MedGen UID:
276071
•Concept ID:
C1517956
•
Cell or Molecular Dysfunction
Synonym: del(12q)

Definition

A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 12 (12q). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss 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
Seminoma component of mixed testicular germ cell tumor shows a higher incidence of loss of heterozygosity than pure-type seminoma.
Miyai K, Ito K, Nakanishi K, Tsuda H
Hum Pathol 2019 Feb;84:71-80. Epub 2018 Sep 25 doi: 10.1016/j.humpath.2018.09.007. PMID: 30266250
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
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

Diagnosis

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L
Genes (Basel) 2022 Apr 27;13(5) doi: 10.3390/genes13050780. PMID: 35627165Free PMC Article
Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.
Rosenberg RE, Egan M, Rodgers S, Harter D, Burnside RD, Milla S, Pappas J
Pediatrics 2013 Jun;131(6):e1996-2001. Epub 2013 May 27 doi: 10.1542/peds.2012-0749. PMID: 23713105
Carcinoma ex pleomorphic adenoma: a comprehensive review of clinical, pathological and molecular data.
Antony J, Gopalan V, Smith RA, Lam AK
Head Neck Pathol 2012 Mar;6(1):1-9. Epub 2011 Jul 9 doi: 10.1007/s12105-011-0281-z. PMID: 21744105Free PMC Article
Molecular mechanisms of pancreatic carcinogenesis.
Furukawa T, Sunamura M, Horii A
Cancer Sci 2006 Jan;97(1):1-7. doi: 10.1111/j.1349-7006.2005.00134.x. PMID: 16367914
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
Gene therapy for pancreatic cancer targeting the genomic alterations of tumor suppressor genes using replication-selective oncolytic adenovirus.
Sunamura M, Oonuma M, Motoi F, Abe H, Saitoh Y, Hoshida T, Ottomo S, Horii A, Matsuno S
Hum Cell 2002 Sep;15(3):138-50. doi: 10.1111/j.1749-0774.2002.tb00108.x. PMID: 12703544
Helicobacter pylori-related and -non-related gastric cancers do not differ with respect to chromosomal aberrations.
van Grieken NC, Weiss MM, Meijer GA, Hermsen MA, Scholte GH, Lindeman J, Craanen ME, Bloemena E, Meuwissen SG, Baak JP, Kuipers EJ
J Pathol 2000 Nov;192(3):301-6. doi: 10.1002/1096-9896(2000)9999:9999<::AID-PATH697>3.0.CO;2-F. PMID: 11054712
Allelic loss and somatic differentiation in human male germ cell tumors.
Murty VV, Bosl GJ, Houldsworth J, Meyers M, Mukherjee AB, Reuter V, Chaganti RS
Oncogene 1994 Aug;9(8):2245-51. PMID: 7518576

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
Carcinoma ex pleomorphic adenoma: a comprehensive review of clinical, pathological and molecular data.
Antony J, Gopalan V, Smith RA, Lam AK
Head Neck Pathol 2012 Mar;6(1):1-9. Epub 2011 Jul 9 doi: 10.1007/s12105-011-0281-z. PMID: 21744105Free PMC Article
Regions of allelic imbalance in the distal portion of chromosome 12q in gastric cancer.
Schneider BG, Rha SY, Chung HC, Bravo JC, Mera R, Torres JC, Plaisance KT Jr, Schlegel R, McBride CM, Reveles XT, Leach RJ
Mol Pathol 2003 Jun;56(3):141-9. doi: 10.1136/mp.56.3.141. PMID: 12782760Free 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
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

Clinical prediction guides

Dowling-Degos Disease in the Anogenital Region.
Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
Mucosal melanomas of different anatomic sites share a common global DNA methylation profile with cutaneous melanoma but show location-dependent patterns of genetic and epigenetic alterations.
Jurmeister P, Wrede N, Hoffmann I, Vollbrecht C, Heim D, Hummel M, Wolkenstein P, Koch I, Heynol V, Schmitt WD, Thieme A, Teichmann D, Sers C, von Deimling A, Thierauf JC, von Laffert M, Klauschen F, Capper D
J Pathol 2022 Jan;256(1):61-70. Epub 2021 Oct 25 doi: 10.1002/path.5808. PMID: 34564861
Loss of heterozygosity on chromosome 2 in Japanese patients with prostate cancer.
Ueda T, Komiya A, Suzuki H, Shimbo M, Sakamoto S, Imamoto T, Akakura K, Shiraishi T, Ichikawa T
Prostate 2005 Aug 1;64(3):265-71. doi: 10.1002/pros.20228. PMID: 15717310
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
Frequent loss of chromosome arm 1p DNA in parathyroid adenomas.
Cryns VL, Yi SM, Tahara H, Gaz RD, Arnold A
Genes Chromosomes Cancer 1995 May;13(1):9-17. doi: 10.1002/gcc.2870130103. PMID: 7541648

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