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Chromosome 12p deletion

MedGen UID:
208640
•Concept ID:
C0795844
•
Disease or Syndrome
Synonyms: Deletion 12p; Monosomy 12p; Partial deletion of the short arm of chromosome 12
 
Monarch Initiative: MONDO:0022174
Orphanet: ORPHA316244

Definition

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 12p deletion

Recent clinical studies

Etiology

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
Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group.
Braulke F, Müller-Thomas C, Götze K, Platzbecker U, Germing U, Hofmann WK, Giagounidis AA, Lübbert M, Greenberg PL, Bennett JM, Solé F, Slovak ML, Ohyashiki K, Le Beau MM, Tüchler H, Pfeilstöcker M, Hildebrandt B, Aul C, Stauder R, Valent P, Fonatsch C, Bacher U, Trümper L, Haase D, Schanz J
Genes Chromosomes Cancer 2015 Dec;54(12):809-17. Epub 2015 Sep 10 doi: 10.1002/gcc.22292. PMID: 26355708
Heterogeneous chromosome 12p deletion is an independent adverse prognostic factor and resistant to bortezomib-based therapy in multiple myeloma.
Li F, Xu Y, Deng P, Yang Y, Sui W, Jin F, Hao M, Li Z, Zang M, Zhou D, Gu Z, Ru K, Wang J, Cheng T, Qiu L
Oncotarget 2015 Apr 20;6(11):9434-44. doi: 10.18632/oncotarget.3319. PMID: 25831238Free PMC Article
Analysis of chromosome 12p deletion in plasma cell dyscrasias.
Jiang N, Qi C, Yu L, Ning Y, An G, Qiu L, Chang H
Leuk Res 2012 Jan;36(1):32-6. Epub 2011 Oct 5 doi: 10.1016/j.leukres.2011.07.030. PMID: 21982640

Diagnosis

Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group.
Braulke F, Müller-Thomas C, Götze K, Platzbecker U, Germing U, Hofmann WK, Giagounidis AA, Lübbert M, Greenberg PL, Bennett JM, Solé F, Slovak ML, Ohyashiki K, Le Beau MM, Tüchler H, Pfeilstöcker M, Hildebrandt B, Aul C, Stauder R, Valent P, Fonatsch C, Bacher U, Trümper L, Haase D, Schanz J
Genes Chromosomes Cancer 2015 Dec;54(12):809-17. Epub 2015 Sep 10 doi: 10.1002/gcc.22292. PMID: 26355708
Heterogeneous chromosome 12p deletion is an independent adverse prognostic factor and resistant to bortezomib-based therapy in multiple myeloma.
Li F, Xu Y, Deng P, Yang Y, Sui W, Jin F, Hao M, Li Z, Zang M, Zhou D, Gu Z, Ru K, Wang J, Cheng T, Qiu L
Oncotarget 2015 Apr 20;6(11):9434-44. doi: 10.18632/oncotarget.3319. PMID: 25831238Free PMC Article
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE
Am J Med Genet A 2014 Jul;164A(7):1770-6. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36495. PMID: 24677787
Analysis of chromosome 12p deletion in plasma cell dyscrasias.
Jiang N, Qi C, Yu L, Ning Y, An G, Qiu L, Chang H
Leuk Res 2012 Jan;36(1):32-6. Epub 2011 Oct 5 doi: 10.1016/j.leukres.2011.07.030. PMID: 21982640
CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia.
Haferlach C, Bacher U, Kohlmann A, Schindela S, Alpermann T, Kern W, Schnittger S, Haferlach T
Haematologica 2011 Jun;96(6):829-36. Epub 2011 Mar 21 doi: 10.3324/haematol.2010.035584. PMID: 21422114Free PMC Article

Therapy

Heterogeneous chromosome 12p deletion is an independent adverse prognostic factor and resistant to bortezomib-based therapy in multiple myeloma.
Li F, Xu Y, Deng P, Yang Y, Sui W, Jin F, Hao M, Li Z, Zang M, Zhou D, Gu Z, Ru K, Wang J, Cheng T, Qiu L
Oncotarget 2015 Apr 20;6(11):9434-44. doi: 10.18632/oncotarget.3319. PMID: 25831238Free PMC Article

Prognosis

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
Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group.
Braulke F, Müller-Thomas C, Götze K, Platzbecker U, Germing U, Hofmann WK, Giagounidis AA, Lübbert M, Greenberg PL, Bennett JM, Solé F, Slovak ML, Ohyashiki K, Le Beau MM, Tüchler H, Pfeilstöcker M, Hildebrandt B, Aul C, Stauder R, Valent P, Fonatsch C, Bacher U, Trümper L, Haase D, Schanz J
Genes Chromosomes Cancer 2015 Dec;54(12):809-17. Epub 2015 Sep 10 doi: 10.1002/gcc.22292. PMID: 26355708
Genomic deletion of chromosome 12p is an independent prognostic marker in prostate cancer.
Kluth M, Ahrary R, Hube-Magg C, Ahmed M, Volta H, Schwemin C, Steurer S, Wittmer C, Wilczak W, Burandt E, Krech T, Adam M, Michl U, Heinzer H, Salomon G, Graefen M, Koop C, Minner S, Simon R, Sauter G, Schlomm T
Oncotarget 2015 Sep 29;6(29):27966-79. doi: 10.18632/oncotarget.4626. PMID: 26293672Free PMC Article
Heterogeneous chromosome 12p deletion is an independent adverse prognostic factor and resistant to bortezomib-based therapy in multiple myeloma.
Li F, Xu Y, Deng P, Yang Y, Sui W, Jin F, Hao M, Li Z, Zang M, Zhou D, Gu Z, Ru K, Wang J, Cheng T, Qiu L
Oncotarget 2015 Apr 20;6(11):9434-44. doi: 10.18632/oncotarget.3319. PMID: 25831238Free PMC Article
Analysis of chromosome 12p deletion in plasma cell dyscrasias.
Jiang N, Qi C, Yu L, Ning Y, An G, Qiu L, Chang H
Leuk Res 2012 Jan;36(1):32-6. Epub 2011 Oct 5 doi: 10.1016/j.leukres.2011.07.030. PMID: 21982640

Clinical prediction guides

Frequency of del(12p) is commonly underestimated in myelodysplastic syndromes: Results from a German diagnostic study in comparison with an international control group.
Braulke F, Müller-Thomas C, Götze K, Platzbecker U, Germing U, Hofmann WK, Giagounidis AA, Lübbert M, Greenberg PL, Bennett JM, Solé F, Slovak ML, Ohyashiki K, Le Beau MM, Tüchler H, Pfeilstöcker M, Hildebrandt B, Aul C, Stauder R, Valent P, Fonatsch C, Bacher U, Trümper L, Haase D, Schanz J
Genes Chromosomes Cancer 2015 Dec;54(12):809-17. Epub 2015 Sep 10 doi: 10.1002/gcc.22292. PMID: 26355708
Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE
Am J Med Genet A 2014 Jul;164A(7):1770-6. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36495. PMID: 24677787
CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia.
Haferlach C, Bacher U, Kohlmann A, Schindela S, Alpermann T, Kern W, Schnittger S, Haferlach T
Haematologica 2011 Jun;96(6):829-36. Epub 2011 Mar 21 doi: 10.3324/haematol.2010.035584. PMID: 21422114Free PMC Article

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