U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
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
Cardiac manifestations of Pallister-Killian syndrome.
Tilton RK, Wilkens A, Krantz ID, Izumi K
Am J Med Genet A 2014 May;164A(5):1130-5. Epub 2014 Feb 6 doi: 10.1002/ajmg.a.36413. PMID: 24504854
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
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
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

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
The second ETV6 allele is not necessarily deleted in acute leukemias with a ETV6/ABL fusion.
Hannemann JR, Healy LE, Ridge SA, Wiedemann LM
Genes Chromosomes Cancer 1998 Mar;21(3):256-9. doi: 10.1002/(sici)1098-2264(199803)21:3<256::aid-gcc11>3.0.co;2-n. PMID: 9523202

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...