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Myeloid Neoplasms with Germline ETV6 Mutation

MedGen UID:
1661483
Concept ID:
C4726552
Neoplastic Process

Definition

Autosomal dominant familial thrombocytopenia associated with germline ETV6 mutation and hematologic malignancies. The hematologic malignancies reported are diverse, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma. Non-hematological neoplasms, including colorectal adenocarcinoma, have been also reported in affected families. (WHO 2017) [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid Neoplasms with Germline ETV6 Mutation

Professional guidelines

PubMed

Trottier AM, Feurstein S, Godley LA
Best Pract Res Clin Haematol 2024 Mar;37(1):101537. Epub 2024 Feb 1 doi: 10.1016/j.beha.2024.101537. PMID: 38490765
Andrés-Zayas C, Suárez-González J, Rodríguez-Macías G, Dorado N, Osorio S, Font P, Carbonell D, Chicano M, Muñiz P, Bastos M, Kwon M, Díez-Martín JL, Buño I, Martínez-Laperche C
Mol Oncol 2021 Sep;15(9):2273-2284. Epub 2021 Jul 16 doi: 10.1002/1878-0261.12921. PMID: 33533142Free PMC Article

Recent clinical studies

Etiology

Trottier AM, Feurstein S, Godley LA
Best Pract Res Clin Haematol 2024 Mar;37(1):101537. Epub 2024 Feb 1 doi: 10.1016/j.beha.2024.101537. PMID: 38490765
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Nishii R, Baskin-Doerfler R, Yang W, Oak N, Zhao X, Yang W, Hoshitsuki K, Bloom M, Verbist K, Burns M, Li Z, Lin TN, Qian M, Moriyama T, Gastier-Foster JM, Rabin KR, Raetz E, Mullighan C, Pui CH, Yeoh AE, Zhang J, Metzger ML, Klco JM, Hunger SP, Newman S, Wu G, Loh ML, Nichols KE, Yang JJ
Blood 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164. PMID: 32693409Free PMC Article
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article

Diagnosis

Trottier AM, Feurstein S, Godley LA
Best Pract Res Clin Haematol 2024 Mar;37(1):101537. Epub 2024 Feb 1 doi: 10.1016/j.beha.2024.101537. PMID: 38490765
Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR
Virchows Arch 2023 Jan;482(1):113-130. Epub 2022 Nov 29 doi: 10.1007/s00428-022-03447-9. PMID: 36445482
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Churpek JE, Bresnick EH
J Clin Invest 2019 Feb 1;129(2):476-488. doi: 10.1172/JCI120854. PMID: 30707109Free PMC Article

Prognosis

Trottier AM, Feurstein S, Godley LA
Best Pract Res Clin Haematol 2024 Mar;37(1):101537. Epub 2024 Feb 1 doi: 10.1016/j.beha.2024.101537. PMID: 38490765
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Churpek JE, Bresnick EH
J Clin Invest 2019 Feb 1;129(2):476-488. doi: 10.1172/JCI120854. PMID: 30707109Free PMC Article
Király AP, Kállay K, Gángó A, Kellner Á, Egyed M, Szőke A, Kiss R, Vályi-Nagy I, Csomor J, Matolcsy A, Bödör C
Pathol Oncol Res 2018 Jan;24(1):83-88. Epub 2017 Mar 29 doi: 10.1007/s12253-017-0216-4. PMID: 28357685
Tefferi A
Leuk Lymphoma 2008 Mar;49(3):388-97. doi: 10.1080/10428190801895360. PMID: 18297515

Clinical prediction guides

Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Mangaonkar AA, Patnaik MM
Mayo Clin Proc 2020 Jul;95(7):1482-1498. Epub 2020 Jun 19 doi: 10.1016/j.mayocp.2019.12.013. PMID: 32571604
Ismael O, Shimada A, Hama A, Elshazley M, Muramatsu H, Goto A, Sakaguchi H, Tanaka M, Takahashi Y, Yinyan X, Fukuda M, Miyajima Y, Yamashita Y, Horibe K, Hanada R, Ito M, Kojima S
Br J Haematol 2012 Jul;158(1):129-37. Epub 2012 May 10 doi: 10.1111/j.1365-2141.2012.09140.x. PMID: 22571758

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