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Trisomy 12

MedGen UID:
98492
•Concept ID:
C0432408
•
Disease or Syndrome
SNOMED CT: Trisomy 12 (205653005)

Definition

A chromosomal abnormality consisting of the presence of a third copy of chromosome 12 in somatic cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrisomy 12

Professional guidelines

PubMed

The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment.
Gaidano G, Rossi D
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):329-337. doi: 10.1182/asheducation-2017.1.329. PMID: 29222275Free PMC Article
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.
Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, Su Y, Xie J, Yin B, Su W, Zhang H, Wang W, Chai X, Lin L, Guo H, Li Q, Li P, Yuan Y, Pan X, Li Y, Liu L, Chen H, Xuan Z, Chen S, Zhang C, Zhang H, Tian Z, Zhang Z, Jiang H, Zhao L, Zheng W, Li S, Li Y, Wang J, Wang J, Zhang X
BMC Med Genomics 2012 Dec 1;5:57. doi: 10.1186/1755-8794-5-57. PMID: 23198897Free PMC Article
Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia.
Gunnarsson R, Mansouri L, Isaksson A, Göransson H, Cahill N, Jansson M, Rasmussen M, Lundin J, Norin S, Buhl AM, Smedby KE, Hjalgrim H, Karlsson K, Jurlander J, Geisler C, Juliusson G, Rosenquist R
Haematologica 2011 Aug;96(8):1161-9. Epub 2011 May 5 doi: 10.3324/haematol.2010.039768. PMID: 21546498Free PMC Article

Recent clinical studies

Etiology

Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Role of microRNAs in Chronic Lymphocytic Leukemia Pathogenesis.
Javandoost E, Firoozi-Majd E, Rostamian H, Khakpoor-Koosheh M, Mirzaei HR
Curr Med Chem 2020;27(2):282-297. doi: 10.2174/0929867326666190911114842. PMID: 31544709
Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review.
Autore F, Strati P, Laurenti L, Ferrajoli A
Haematologica 2018 Jun;103(6):931-938. Epub 2018 May 10 doi: 10.3324/haematol.2017.186684. PMID: 29748447Free PMC Article
KRAS and aneusomy of chromosomes 4, 10 and 12 in colorectal carcinomas.
Beyer K, Altendorf-Hofmann A, Chen Y, Bickel K, Petersen I
Pathol Res Pract 2015 Sep;211(9):646-51. Epub 2015 May 27 doi: 10.1016/j.prp.2015.05.008. PMID: 26122820
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia.
Landau DA, Carter SL, Stojanov P, McKenna A, Stevenson K, Lawrence MS, Sougnez C, Stewart C, Sivachenko A, Wang L, Wan Y, Zhang W, Shukla SA, Vartanov A, Fernandes SM, Saksena G, Cibulskis K, Tesar B, Gabriel S, Hacohen N, Meyerson M, Lander ES, Neuberg D, Brown JR, Getz G, Wu CJ
Cell 2013 Feb 14;152(4):714-26. doi: 10.1016/j.cell.2013.01.019. PMID: 23415222Free PMC Article

Diagnosis

Role of microRNAs in Chronic Lymphocytic Leukemia Pathogenesis.
Javandoost E, Firoozi-Majd E, Rostamian H, Khakpoor-Koosheh M, Mirzaei HR
Curr Med Chem 2020;27(2):282-297. doi: 10.2174/0929867326666190911114842. PMID: 31544709
Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review.
Autore F, Strati P, Laurenti L, Ferrajoli A
Haematologica 2018 Jun;103(6):931-938. Epub 2018 May 10 doi: 10.3324/haematol.2017.186684. PMID: 29748447Free PMC Article
KRAS and aneusomy of chromosomes 4, 10 and 12 in colorectal carcinomas.
Beyer K, Altendorf-Hofmann A, Chen Y, Bickel K, Petersen I
Pathol Res Pract 2015 Sep;211(9):646-51. Epub 2015 May 27 doi: 10.1016/j.prp.2015.05.008. PMID: 26122820
Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis.
Chen CP, Su YN, Su JW, Chern SR, Chen YT, Chen LF, Wang W
Taiwan J Obstet Gynecol 2013 Mar;52(1):97-105. doi: 10.1016/j.tjog.2013.01.012. PMID: 23548227
Trisomy 12 and elevated GLI1 and PTCH1 transcript levels are biomarkers for Hedgehog-inhibitor responsiveness in CLL.
Decker S, Zirlik K, Djebatchie L, Hartmann D, Ihorst G, Schmitt-Graeff A, Herchenbach D, Jumaa H, Warmuth M, Veelken H, Dierks C
Blood 2012 Jan 26;119(4):997-1007. Epub 2011 Nov 30 doi: 10.1182/blood-2011-06-359075. PMID: 22130798

Therapy

Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Drug-perturbation-based stratification of blood cancer.
Dietrich S, Oleś M, Lu J, Sellner L, Anders S, Velten B, Wu B, Hüllein J, da Silva Liberio M, Walther T, Wagner L, Rabe S, Ghidelli-Disse S, Bantscheff M, Oleś AK, Słabicki M, Mock A, Oakes CC, Wang S, Oppermann S, Lukas M, Kim V, Sill M, Benner A, Jauch A, Sutton LA, Young E, Rosenquist R, Liu X, Jethwa A, Lee KS, Lewis J, Putzker K, Lutz C, Rossi D, Mokhir A, Oellerich T, Zirlik K, Herling M, Nguyen-Khac F, Plass C, Andersson E, Mustjoki S, von Kalle C, Ho AD, Hensel M, Dürig J, Ringshausen I, Zapatka M, Huber W, Zenz T
J Clin Invest 2018 Jan 2;128(1):427-445. Epub 2017 Dec 11 doi: 10.1172/JCI93801. PMID: 29227286Free PMC Article
The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment.
Gaidano G, Rossi D
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):329-337. doi: 10.1182/asheducation-2017.1.329. PMID: 29222275Free PMC Article
Trisomy 12 and elevated GLI1 and PTCH1 transcript levels are biomarkers for Hedgehog-inhibitor responsiveness in CLL.
Decker S, Zirlik K, Djebatchie L, Hartmann D, Ihorst G, Schmitt-Graeff A, Herchenbach D, Jumaa H, Warmuth M, Veelken H, Dierks C
Blood 2012 Jan 26;119(4):997-1007. Epub 2011 Nov 30 doi: 10.1182/blood-2011-06-359075. PMID: 22130798
Cytogenetic and molecular abnormalities in chronic lymphocytic leukaemia.
Oscier DG
Blood Rev 1994 Jun;8(2):88-97. doi: 10.1016/s0268-960x(05)80013-x. PMID: 7950479

Prognosis

Whole-exome and whole-genome sequencing in chronic lymphocytic leukemia: new biomarkers to target.
Hobeika C, Rached G, Chebly A, Chouery E, Kourie HR
Pharmacogenomics 2020 Aug;21(13):957-962. Epub 2020 Aug 17 doi: 10.2217/pgs-2020-0022. PMID: 32799640
Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review.
Autore F, Strati P, Laurenti L, Ferrajoli A
Haematologica 2018 Jun;103(6):931-938. Epub 2018 May 10 doi: 10.3324/haematol.2017.186684. PMID: 29748447Free PMC Article
The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment.
Gaidano G, Rossi D
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):329-337. doi: 10.1182/asheducation-2017.1.329. PMID: 29222275Free PMC Article
Clinical and laboratory prognostic indicators in chronic lymphocytic leukemia.
Sagatys EM, Zhang L
Cancer Control 2012 Jan;19(1):18-25. doi: 10.1177/107327481201900103. PMID: 22143059

Clinical prediction guides

Ibrutinib Treatment for First-Line and Relapsed/Refractory Chronic Lymphocytic Leukemia: Final Analysis of the Pivotal Phase Ib/II PCYC-1102 Study.
Byrd JC, Furman RR, Coutre SE, Flinn IW, Burger JA, Blum K, Sharman JP, Wierda W, Zhao W, Heerema NA, Luan Y, Liu EA, Dean JP, O'Brien S
Clin Cancer Res 2020 Aug 1;26(15):3918-3927. Epub 2020 Mar 24 doi: 10.1158/1078-0432.CCR-19-2856. PMID: 32209572Free PMC Article
Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review.
Autore F, Strati P, Laurenti L, Ferrajoli A
Haematologica 2018 Jun;103(6):931-938. Epub 2018 May 10 doi: 10.3324/haematol.2017.186684. PMID: 29748447Free PMC Article
The mutational landscape of chronic lymphocytic leukemia and its impact on prognosis and treatment.
Gaidano G, Rossi D
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):329-337. doi: 10.1182/asheducation-2017.1.329. PMID: 29222275Free PMC Article
Biomarkers in chronic lymphocytic leukemia: Clinical applications and prognostic markers.
Amaya-Chanaga CI, Rassenti LZ
Best Pract Res Clin Haematol 2016 Mar;29(1):79-89. Epub 2016 Aug 10 doi: 10.1016/j.beha.2016.08.005. PMID: 27742074
Clinical and laboratory prognostic indicators in chronic lymphocytic leukemia.
Sagatys EM, Zhang L
Cancer Control 2012 Jan;19(1):18-25. doi: 10.1177/107327481201900103. PMID: 22143059

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