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@inbook{1614682, author = {Trizuljak, Jakub and Doubek, Michael}, address = {London}, booktitle = {Germ Line Mutations Associated Leukemia}, doi = {http://dx.doi.org/10.5772/intechopen.85303}, editor = {Zhan He Wu}, keywords = {Familial leukemia; thrombocytopenia; AML; familial; RUNX1; ANKRD26; ETV6}, howpublished = {elektronická verze "online"}, language = {eng}, location = {London}, isbn = {978-1-78984-024-7}, pages = {1-16}, publisher = {Intech Open}, title = {Familial leukemia associated with thrombocytopenia}, url = {https://www.intechopen.com/books/germ-line-mutations-associated-leukemia/familial-leukemia-associated-with-thrombocytopenia}, year = {2019} }
TY - CHAP ID - 1614682 AU - Trizuljak, Jakub - Doubek, Michael PY - 2019 TI - Familial leukemia associated with thrombocytopenia VL - Neuveden PB - Intech Open CY - London SN - 9781789840247 KW - Familial leukemia KW - thrombocytopenia KW - AML KW - familial KW - RUNX1 KW - ANKRD26 KW - ETV6 UR - https://www.intechopen.com/books/germ-line-mutations-associated-leukemia/familial-leukemia-associated-with-thrombocytopenia L2 - https://www.intechopen.com/books/germ-line-mutations-associated-leukemia/familial-leukemia-associated-with-thrombocytopenia N2 - 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. ER -
TRIZULJAK, Jakub a Michael DOUBEK. Familial leukemia associated with thrombocytopenia. Online. In Zhan He Wu. \textit{Germ Line Mutations Associated Leukemia}. London: Intech Open, 2019, s.~1-16. ISBN~978-1-78984-024-7. Dostupné z: https://dx.doi.org/10.5772/intechopen.85303.
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