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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

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.
Jain N, Croner LJ, Allan JN, Siddiqi T, Tedeschi A, Badoux XC, Eckert K, Cheung LWK, Mukherjee A, Dean JP, Szafer-Glusman E, Seymour JF
Clin Cancer Res 2024 Feb 1;30(3):498-505. doi: 10.1158/1078-0432.CCR-22-3934. PMID: 37955424Free PMC Article
Cytogenetics in the management of chronic lymphocytic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Nguyen-Khac F, Balogh Z, Chauzeix J, Veronese L, Chapiro E
Curr Res Transl Med 2023 Oct-Dec;71(4):103410. Epub 2023 Sep 17 doi: 10.1016/j.retram.2023.103410. PMID: 38039634
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

Recent clinical studies

Therapy

Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax.
Jain N, Croner LJ, Allan JN, Siddiqi T, Tedeschi A, Badoux XC, Eckert K, Cheung LWK, Mukherjee A, Dean JP, Szafer-Glusman E, Seymour JF
Clin Cancer Res 2024 Feb 1;30(3):498-505. doi: 10.1158/1078-0432.CCR-22-3934. PMID: 37955424Free PMC Article
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
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.
Hodge JC, Morton CC
Hum Mol Genet 2007 Apr 15;16 Spec No 1:R7-13. doi: 10.1093/hmg/ddm043. PMID: 17613550

Prognosis

Cytogenetics in the management of chronic lymphocytic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Nguyen-Khac F, Balogh Z, Chauzeix J, Veronese L, Chapiro E
Curr Res Transl Med 2023 Oct-Dec;71(4):103410. Epub 2023 Sep 17 doi: 10.1016/j.retram.2023.103410. PMID: 38039634
Subgroup-specific gene expression profiles and mixed epistasis in chronic lymphocytic leukemia.
Lütge A, Lu J, Hüllein J, Walther T, Sellner L, Wu B, Rosenquist R, Oakes CC, Dietrich S, Huber W, Zenz T
Haematologica 2023 Oct 1;108(10):2664-2676. doi: 10.3324/haematol.2022.281869. PMID: 37226709Free PMC Article
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
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
Genetic abnormalities in chronic lymphocytic leukemia: where we are and where we go.
Puiggros A, Blanco G, Espinet B
Biomed Res Int 2014;2014:435983. Epub 2014 May 22 doi: 10.1155/2014/435983. PMID: 24967369Free PMC Article

Clinical prediction guides

Subgroup-specific gene expression profiles and mixed epistasis in chronic lymphocytic leukemia.
Lütge A, Lu J, Hüllein J, Walther T, Sellner L, Wu B, Rosenquist R, Oakes CC, Dietrich S, Huber W, Zenz T
Haematologica 2023 Oct 1;108(10):2664-2676. doi: 10.3324/haematol.2022.281869. PMID: 37226709Free PMC Article
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

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