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Gain of Chromosome 12p

MedGen UID:
275933
•Concept ID:
C1517383
•
Cell or Molecular Dysfunction

Term Hierarchy

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

Professional guidelines

PubMed

The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW
Prenat Diagn 2020 Jul;40(8):1005-1012. Epub 2020 May 17 doi: 10.1002/pd.5721. PMID: 32350887
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors.
Looijenga LHJ, Van der Kwast TH, Grignon D, Egevad L, Kristiansen G, Kao CS, Idrees MT
Am J Surg Pathol 2020 Jul;44(7):e66-e79. doi: 10.1097/PAS.0000000000001465. PMID: 32205480Free PMC Article
Chromosomal changes in colorectal adenomas: relationship to gene mutations and potential for clinical utility.
Leslie A, Stewart A, Baty DU, Mechan D, McGreavey L, Smith G, Wolf CR, Sales M, Pratt NR, Steele RJ, Carey FA
Genes Chromosomes Cancer 2006 Feb;45(2):126-35. doi: 10.1002/gcc.20271. PMID: 16235243

Recent clinical studies

Etiology

Chromosomal gains of 12p and 1q are not associated with inferior outcome of pediatric and adolescent germ cell tumors.
Greimelmaier K, Calaminus G, Kristiansen G, Vokuhl C, Klapper W
Pediatr Blood Cancer 2019 Aug;66(8):e27777. Epub 2019 May 2 doi: 10.1002/pbc.27777. PMID: 31045322
Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas.
Cornejo KM, Cheng L, Church A, Wang M, Jiang Z
Hum Pathol 2016 Mar;49:54-60. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.003. PMID: 26826410
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
Role of gain of 12p in germ cell tumour development.
Looijenga LH, Zafarana G, Grygalewicz B, Summersgill B, Debiec-Rychter M, Veltman J, Schoenmakers EF, Rodriguez S, Jafer O, Clark J, van Kessel AG, Shipley J, van Gurp RJ, Gillis AJ, Oosterhuis JW
APMIS 2003 Jan;111(1):161-71; discussion 172-3. doi: 10.1034/j.1600-0463.2003.11101201.x. PMID: 12752258
A molecular model for the development of germ cell cancer.
Looijenga LH, de Munnik H, Oosterhuis JW
Int J Cancer 1999 Dec 10;83(6):809-14. doi: 10.1002/(sici)1097-0215(19991210)83:6<809::aid-ijc20>3.0.co;2-0. PMID: 10597200

Diagnosis

Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an Array-Based CGH Strategy.
Jesus-Ribeiro J, Ribeiro IP, Pires LM, Paiva P, Simões S, Pereira C, Robalo C, Pereira R, Sales F, Rebelo O, Santana I, Freire A, Barbosa Melo J
Cytogenet Genome Res 2022;162(1-2):28-33. Epub 2022 Apr 27 doi: 10.1159/000524130. PMID: 35477180
The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Chau MHK, Lam DYM, Zhu X, Kwok YKY, Ting YH, Chan WP, Shi M, Cheung SWH, Lau TK, Ville Y, Leung TY, Choy KW
Prenat Diagn 2020 Jul;40(8):1005-1012. Epub 2020 May 17 doi: 10.1002/pd.5721. PMID: 32350887
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: IV: Current and Future Utilization of Molecular-Genetic Tests for Testicular Germ Cell Tumors.
Looijenga LHJ, Van der Kwast TH, Grignon D, Egevad L, Kristiansen G, Kao CS, Idrees MT
Am J Surg Pathol 2020 Jul;44(7):e66-e79. doi: 10.1097/PAS.0000000000001465. PMID: 32205480Free PMC Article
Chromosomal gains of 12p and 1q are not associated with inferior outcome of pediatric and adolescent germ cell tumors.
Greimelmaier K, Calaminus G, Kristiansen G, Vokuhl C, Klapper W
Pediatr Blood Cancer 2019 Aug;66(8):e27777. Epub 2019 May 2 doi: 10.1002/pbc.27777. PMID: 31045322
Pathogenesis of testicular germ cell tumours.
Looijenga LH, Oosterhuis JW
Rev Reprod 1999 May;4(2):90-100. doi: 10.1530/ror.0.0040090. PMID: 10357096

Therapy

Malignant teratoma of the thyroid: A difficult diagnosis by fine-needle aspiration.
Starling CE, Sabra J, Brady B, Horton M, Traweek ST
Diagn Cytopathol 2019 Sep;47(9):930-934. Epub 2019 May 23 doi: 10.1002/dc.24216. PMID: 31120625
Subtype-specific signaling pathways and genomic aberrations associated with prognosis of glioblastoma.
Park AK, Kim P, Ballester LY, Esquenazi Y, Zhao Z
Neuro Oncol 2019 Jan 1;21(1):59-70. doi: 10.1093/neuonc/noy120. PMID: 30053126Free PMC Article
A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value.
Walker BA, Leone PE, Chiecchio L, Dickens NJ, Jenner MW, Boyd KD, Johnson DC, Gonzalez D, Dagrada GP, Protheroe RK, Konn ZJ, Stockley DM, Gregory WM, Davies FE, Ross FM, Morgan GJ
Blood 2010 Oct 14;116(15):e56-65. Epub 2010 Jul 8 doi: 10.1182/blood-2010-04-279596. PMID: 20616218
Chromosome abnormalities of eighty-one pediatric germ cell tumors: sex-, age-, site-, and histopathology-related differences--a Children's Cancer Group study.
Bussey KJ, Lawce HJ, Olson SB, Arthur DC, Kalousek DK, Krailo M, Giller R, Heifetz S, Womer R, Magenis RE
Genes Chromosomes Cancer 1999 Jun;25(2):134-46. PMID: 10337997
Regional cancer cytogenetics: a report on 1,143 diagnostic cases.
Perkins D, Brennan S, Carstairs K, Bailey D, Pantalony D, Poon A, Fernandes B, Dubé I
Cancer Genet Cytogenet 1997 Jul 1;96(1):64-80. doi: 10.1016/s0165-4608(96)00363-9. PMID: 9209473

Prognosis

Cytogenetics of spermatocytic tumors with a discussion of gain of chromosome 12p in anaplastic variants.
Gupta S, Farooq A, Rowsey RA, Rahman MA, Shen W, Herrera-Hernandez L, Raghunathan A, Thompson RH, Boorjian SA, Leibovich BC, Cheville JC, Jimenez RE
Hum Pathol 2022 Jun;124:85-95. Epub 2022 Apr 1 doi: 10.1016/j.humpath.2022.03.012. PMID: 35378115
Chromosomal gains of 12p and 1q are not associated with inferior outcome of pediatric and adolescent germ cell tumors.
Greimelmaier K, Calaminus G, Kristiansen G, Vokuhl C, Klapper W
Pediatr Blood Cancer 2019 Aug;66(8):e27777. Epub 2019 May 2 doi: 10.1002/pbc.27777. PMID: 31045322
Subtype-specific signaling pathways and genomic aberrations associated with prognosis of glioblastoma.
Park AK, Kim P, Ballester LY, Esquenazi Y, Zhao Z
Neuro Oncol 2019 Jan 1;21(1):59-70. doi: 10.1093/neuonc/noy120. PMID: 30053126Free PMC Article
Testicular germ cell tumor genomics.
Woldu SL, Amatruda JF, Bagrodia A
Curr Opin Urol 2017 Jan;27(1):41-47. doi: 10.1097/MOU.0000000000000347. PMID: 27584029Free PMC Article
Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas.
Cornejo KM, Cheng L, Church A, Wang M, Jiang Z
Hum Pathol 2016 Mar;49:54-60. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.003. PMID: 26826410

Clinical prediction guides

Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an Array-Based CGH Strategy.
Jesus-Ribeiro J, Ribeiro IP, Pires LM, Paiva P, Simões S, Pereira C, Robalo C, Pereira R, Sales F, Rebelo O, Santana I, Freire A, Barbosa Melo J
Cytogenet Genome Res 2022;162(1-2):28-33. Epub 2022 Apr 27 doi: 10.1159/000524130. PMID: 35477180
Chromosomal gains of 12p and 1q are not associated with inferior outcome of pediatric and adolescent germ cell tumors.
Greimelmaier K, Calaminus G, Kristiansen G, Vokuhl C, Klapper W
Pediatr Blood Cancer 2019 Aug;66(8):e27777. Epub 2019 May 2 doi: 10.1002/pbc.27777. PMID: 31045322
Testicular germ cell tumor genomics.
Woldu SL, Amatruda JF, Bagrodia A
Curr Opin Urol 2017 Jan;27(1):41-47. doi: 10.1097/MOU.0000000000000347. PMID: 27584029Free PMC Article
Chromosome 12p abnormalities and IMP3 expression in prepubertal pure testicular teratomas.
Cornejo KM, Cheng L, Church A, Wang M, Jiang Z
Hum Pathol 2016 Mar;49:54-60. Epub 2015 Oct 31 doi: 10.1016/j.humpath.2015.10.003. PMID: 26826410
A molecular model for the development of germ cell cancer.
Looijenga LH, de Munnik H, Oosterhuis JW
Int J Cancer 1999 Dec 10;83(6):809-14. doi: 10.1002/(sici)1097-0215(19991210)83:6<809::aid-ijc20>3.0.co;2-0. PMID: 10597200

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