Familial leukemia associated with thrombocytopenia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00108587" target="_blank" >RIV/00216224:14110/19:00108587 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.intechopen.com/books/germ-line-mutations-associated-leukemia/familial-leukemia-associated-with-thrombocytopenia" target="_blank" >https://www.intechopen.com/books/germ-line-mutations-associated-leukemia/familial-leukemia-associated-with-thrombocytopenia</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5772/intechopen.85303" target="_blank" >10.5772/intechopen.85303</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Familial leukemia associated with thrombocytopenia

Popis výsledku v původním jazyce

Familial predisposition to leukemia has been known for decades. In some families, this condition is also associated with thrombocytopenia and history of bleeding. Germline mutations in the RUNX1 gene have been proven to cause familial platelet disorder with predisposition to myeloid malignancies (FDPMM). The disease typically presents with mild-to-moderate thrombocytopenia with normal-size platelets, functional platelet defects leading to prolonged bleeding, and an increased risk to develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or T-cell acute lymphoblastic leukemia (T-ALL). In recent years, molecular defects in other genes, such as ANKRD26 and ETV6, have been associated with thrombocytopenia and susceptibility to hematological malignancy as well. In our chapter, we will present a review of up-to-date knowledge on this topic along with several case studies demonstrating the diagnostic process and management of the affected families.

Název v anglickém jazyce

Familial leukemia associated with thrombocytopenia

Popis výsledku anglicky

Familial predisposition to leukemia has been known for decades. In some families, this condition is also associated with thrombocytopenia and history of bleeding. Germline mutations in the RUNX1 gene have been proven to cause familial platelet disorder with predisposition to myeloid malignancies (FDPMM). The disease typically presents with mild-to-moderate thrombocytopenia with normal-size platelets, functional platelet defects leading to prolonged bleeding, and an increased risk to develop myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), or T-cell acute lymphoblastic leukemia (T-ALL). In recent years, molecular defects in other genes, such as ANKRD26 and ETV6, have been associated with thrombocytopenia and susceptibility to hematological malignancy as well. In our chapter, we will present a review of up-to-date knowledge on this topic along with several case studies demonstrating the diagnostic process and management of the affected families.

Druh

C - Kapitola v odborné knize

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

<a href="/cs/project/NV16-29447A" target="_blank" >NV16-29447A: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním</a><br>

Návaznosti

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

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název knihy nebo sborníku

Germ Line Mutations Associated Leukemia

ISBN

9781789840247

Počet stran výsledku

16

Strana od-do

1-16

Počet stran knihy

71

Název nakladatele

Intech Open

Místo vydání

London

Kód UT WoS kapitoly

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