Familial leukemia associated with thrombocytopenia
The result's identifiers
Result code in 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>
Result on the web
<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>
Alternative languages
Result language
angličtina
Original language name
Familial leukemia associated with thrombocytopenia
Original language description
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.
Czech name
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Czech description
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Classification
Type
C - Chapter in a specialist book
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
<a href="/en/project/NV16-29447A" target="_blank" >NV16-29447A: Searching for mutations predisposing to familial hematologic and oncologic diseases</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Book/collection name
Germ Line Mutations Associated Leukemia
ISBN
9781789840247
Number of pages of the result
16
Pages from-to
1-16
Number of pages of the book
71
Publisher name
Intech Open
Place of publication
London
UT code for WoS chapter
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