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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F16%3A00088950" target="_blank" >RIV/00216224:14740/16:00088950 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/16:00066730

Result on the web

<a href="http://www.haematologica.org/content/101/11/1333" target="_blank" >http://www.haematologica.org/content/101/11/1333</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3324/haematol.2016.147496" target="_blank" >10.3324/haematol.2016.147496</a>

Result language

angličtina

Original language name

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

Original language description

ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. To gain further information on this disorder, we searched for ETV6 mutations in the 130 families with inherited thrombocytopenia of unknown origin from our cohort of 274 consecutive pedigrees with familial thrombocytopenia. We identified 20 patients with ETV6-related thrombocytopenia from seven pedigrees. They have five different ETV6 variants, including three novel mutations affecting the highly conserved E26 transformation-specific domain. The relative frequency of ETV6-related thrombocytopenia was 2.6% in the whole case series and 4.6% among the families with known forms of inherited thrombocytopenia.

Czech name

—

Czech description

—

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

—

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2016

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Haematologica

ISSN

0390-6078

e-ISSN

—

Volume of the periodical

101

Issue of the periodical within the volume

11

Country of publishing house

IT - ITALY

Number of pages

10

Pages from-to

1333-1342

UT code for WoS article

000392550200009

EID of the result in the Scopus database

—