Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia-Reference-Cited by-同舟云学术

Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia

Published:2020-08-21 Issue:6 Volume:32 Page:838-841
ISSN:0953-7104
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language:en
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Author:

Kozubik Katerina Stano¹²,Radova Lenka¹,Reblova Kamila¹²,Smida Michal¹²,Zaliova Kubricanova Marketa³,Baloun Jiri¹,Pesova Michaela¹²,Vrzalova Zuzana¹,Folber Frantisek²,Mejstrikova Sona¹²,Pospisilova Sarka¹²^ORCID,Doubek Michael¹²^ORCID

Affiliation:

1. Center of Molecular Medicine, Central European Institute of Technology, Masaryk University (CEITEC MU), Brno, Czech Republic

2. Department of Internal Medicine – Haematology and Oncology, University Hospital and Medical Faculty, Masaryk University, Brno, Czech Republic

3. Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic

Funder

Ministry of Health of the Czech Republic

Masaryk university

Publisher

Informa UK Limited

Subject

Hematology,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/09537104.2020.1802416

Reference21 articles.

1. Karastaneva A, Nebral K, Schlagenhauf A, Baschin B, Palankar R, Juch H, Heitzer E, Speicher MR, Höfler G, Grigorow I, et al. Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor. J Med Genet 2019. doi:10.1136/jmedgenet-2019-106339

2. Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia