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Loss of Chromosome 12p

MedGen UID:
309320
•Concept ID:
C1517955
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 12p deletion; Deletion 12p; Monosomy 12p

Definition

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

Term Hierarchy

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

Professional guidelines

PubMed

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Genetics of testicular germ cell tumors.
Singla N, Lafin JT, Ghandour RA, Kaffenberger S, Amatruda JF, Bagrodia A
Curr Opin Urol 2019 Jul;29(4):344-349. doi: 10.1097/MOU.0000000000000642. PMID: 31045925Free PMC Article
Molecular genetic evidence supporting the neoplastic nature of stromal cells in 'fibrosis' after chemotherapy for testicular germ cell tumours.
Cheng L, Zhang S, Wang M, Davidson DD, Morton MJ, Huang J, Zheng S, Jones TD, Beck SD, Foster RS
J Pathol 2007 Sep;213(1):65-71. doi: 10.1002/path.2202. PMID: 17634958

Recent clinical studies

Etiology

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Chromosome microarray characterisation of chromosome arm 12p loss associated with complex molecular karyotype and recurrent adverse cytogenetic markers in multiple myeloma.
Hung D, Lenton D, Eslick R, Blennerhassett R, Joshi M, McCaughan G, Day S, Wright D
Genes Chromosomes Cancer 2021 Oct;60(10):668-677. Epub 2021 Jun 7 doi: 10.1002/gcc.22975. PMID: 34041820
Genetics of testicular germ cell tumors.
Singla N, Lafin JT, Ghandour RA, Kaffenberger S, Amatruda JF, Bagrodia A
Curr Opin Urol 2019 Jul;29(4):344-349. doi: 10.1097/MOU.0000000000000642. PMID: 31045925Free PMC Article
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Testicular cancer.
Oliver RT
Curr Opin Oncol 1994 May;6(3):285-91. doi: 10.1097/00001622-199405000-00011. PMID: 8080858

Diagnosis

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Loss of Heterozygosity in the Tumor DNA of De Novo Diagnosed Patients Is Associated with Poor Outcome for B-ALL but Not for T-ALL.
Risinskaya N, Kozhevnikova Y, Gavrilina O, Chabaeva J, Kotova E, Yushkova A, Isinova G, Zarubina K, Obukhova T, Kulikov S, Julhakyan H, Sudarikov A, Parovichnikova E
Genes (Basel) 2022 Feb 23;13(3) doi: 10.3390/genes13030398. PMID: 35327952Free PMC Article
Genetics of testicular germ cell tumors.
Singla N, Lafin JT, Ghandour RA, Kaffenberger S, Amatruda JF, Bagrodia A
Curr Opin Urol 2019 Jul;29(4):344-349. doi: 10.1097/MOU.0000000000000642. PMID: 31045925Free PMC Article
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Testicular cancer.
Oliver RT
Curr Opin Oncol 1994 May;6(3):285-91. doi: 10.1097/00001622-199405000-00011. PMID: 8080858

Therapy

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Gene alterations in epigenetic modifiers and JAK-STAT signaling are frequent in breast implant-associated ALCL.
Laurent C, Nicolae A, Laurent C, Le Bras F, Haioun C, Fataccioli V, Amara N, Adélaïde J, Guille A, Schiano JM, Tesson B, Traverse-Glehen A, Chenard MP, Mescam L, Moreau A, Chassagne-Clement C, Somja J, Escudié F, André M, Martin N, Lacroix L, Lemonnier F, Hamy AS, Reyal F, Bannier M, Oberic L, Prade N, Frénois FX, Beldi-Ferchiou A, Delfau-Larue MH, Bouabdallah R, Birnbaum D, Brousset P, Xerri L, Gaulard P
Blood 2020 Jan 30;135(5):360-370. doi: 10.1182/blood.2019001904. PMID: 31774495Free PMC Article
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
Long-term study of the clinical significance of loss of heterozygosity in childhood acute lymphoblastic leukemia.
Takeuchi S, Tsukasaki K, Bartram CR, Seriu T, Zimmermann M, Schrappe M, Takeuchi N, Park S, Taguchi H, Koeffler HP
Leukemia 2003 Jan;17(1):149-54. doi: 10.1038/sj.leu.2402727. PMID: 12529672
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

Prognosis

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Chromosome microarray characterisation of chromosome arm 12p loss associated with complex molecular karyotype and recurrent adverse cytogenetic markers in multiple myeloma.
Hung D, Lenton D, Eslick R, Blennerhassett R, Joshi M, McCaughan G, Day S, Wright D
Genes Chromosomes Cancer 2021 Oct;60(10):668-677. Epub 2021 Jun 7 doi: 10.1002/gcc.22975. PMID: 34041820
Genetics of testicular germ cell tumors.
Singla N, Lafin JT, Ghandour RA, Kaffenberger S, Amatruda JF, Bagrodia A
Curr Opin Urol 2019 Jul;29(4):344-349. doi: 10.1097/MOU.0000000000000642. PMID: 31045925Free PMC Article
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 cancer.
Oliver RT
Curr Opin Oncol 1994 May;6(3):285-91. doi: 10.1097/00001622-199405000-00011. PMID: 8080858

Clinical prediction guides

Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A
Am J Hematol 2023 May;98(5):801-821. Epub 2023 Feb 6 doi: 10.1002/ajh.26857. PMID: 36680511
Genetics of testicular germ cell tumors.
Singla N, Lafin JT, Ghandour RA, Kaffenberger S, Amatruda JF, Bagrodia A
Curr Opin Urol 2019 Jul;29(4):344-349. doi: 10.1097/MOU.0000000000000642. PMID: 31045925Free PMC Article
Impact of chromosome alterations, genetic mutations and clonal hematopoiesis of indeterminate potential (CHIP) on the classification and risk stratification of MDS.
Ganguly BB, Banerjee D, Agarwal MB
Blood Cells Mol Dis 2018 Mar;69:90-100. Epub 2017 Oct 16 doi: 10.1016/j.bcmd.2017.10.001. PMID: 29079134
Spontaneous Single-Copy Loss of TP53 in Human Embryonic Stem Cells Markedly Increases Cell Proliferation and Survival.
Amir H, Touboul T, Sabatini K, Chhabra D, Garitaonandia I, Loring JF, Morey R, Laurent LC
Stem Cells 2017 Apr;35(4):872-885. Epub 2017 Jan 19 doi: 10.1002/stem.2550. PMID: 27888558
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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