Familial leukemia associated with thrombocytopenia

TRIZULJAK, Jakub and Michael DOUBEK. Familial leukemia associated with thrombocytopenia. Online. In Zhan He Wu. Germ Line Mutations Associated Leukemia. London: Intech Open, 2019. p. 1-16. ISBN 978-1-78984-024-7. Available from: https://dx.doi.org/10.5772/intechopen.85303. [citováno 2024-04-23]

Basic information

• Original name: Familial leukemia associated with thrombocytopenia
• Authors: TRIZULJAK, Jakub (703 Slovakia, belonging to the institution) and Michael DOUBEK (203 Czech Republic, guarantor, belonging to the institution)
• Edition: London, Germ Line Mutations Associated Leukemia, p. 1-16, 16 pp. 2019.
• Publisher: Intech Open

Other information

• Original language: English
• Type of outcome: Chapter(s) of a specialized book
• Field of Study: 30205 Hematology
• Country of publisher: United Kingdom of Great Britain and Northern Ireland
• Confidentiality degree: is not subject to a state or trade secret
• Publication form: electronic version available online
• WWW: URL
• RIV identification code: RIV/00216224:14110/19:00108587
• Organization unit: Faculty of Medicine
• ISBN: 978-1-78984-024-7
• Doi: http://dx.doi.org/10.5772/intechopen.85303
• Keywords in English: Familial leukemia; thrombocytopenia; AML; familial; RUNX1; ANKRD26; ETV6
• Tags: rivok
• Tags: International impact, Reviewed

Abstract

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.

Links

• MUNI/A/1105/2018, interní kód MU: Name: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit VI (Acronym: VýDiTeHeMA VI)

Investor: Masaryk University, Category A

• NV16-29447A, research and development project: Name: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním