Familial leukemia associated with thrombocytopenia

C 2019

Familial leukemia associated with thrombocytopenia

TRIZULJAK, Jakub a Michael DOUBEK

Základní údaje

Originální název

Familial leukemia associated with thrombocytopenia

Autoři

TRIZULJAK, Jakub a Michael DOUBEK

Vydání

London, Germ Line Mutations Associated Leukemia, od s. 1-16, 16 s. 2019

Nakladatel

Intech Open

Další údaje

Jazyk

angličtina

Typ výsledku

Kapitola resp. kapitoly v odborné knize

Obor

30205 Hematology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Forma vydání

elektronická verze "online"

Odkazy

URL

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/19:00108587

Organizační jednotka

Lékařská fakulta

ISBN

978-1-78984-024-7

DOI

https://doi.org/10.5772/intechopen.85303

Klíčová slova anglicky

Familial leukemia; thrombocytopenia; AML; familial; RUNX1; ANKRD26; ETV6

Štítky

rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 22. 4. 2020 08:54, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

MUNI/A/1105/2018, interní kód MU

Název: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit VI (Akronym: VýDiTeHeMA VI)

Investor: Masarykova univerzita, Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit VI, DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

NV16-29447A, projekt VaV

Název: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním

Citovat

TRIZULJAK, Jakub a Michael DOUBEK. Familial leukemia associated with thrombocytopenia. Online. In Zhan He Wu. Germ Line Mutations Associated Leukemia. London: Intech Open, 2019, s. 1-16. ISBN 978-1-78984-024-7. Dostupné z: https://doi.org/10.5772/intechopen.85303.

@inbook{1614682,
   author = {Trizuljak, Jakub and Doubek, Michael},
   address = {London},
   booktitle = {Germ Line Mutations Associated Leukemia},
   doi = {https://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://doi.org/10.5772/intechopen.85303.

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