IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome

IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome

Shwachman-Diamond syndrome (SDS) is a rare and systemic disease mostly caused by mutations in the SBDS gene and characterized by pancreatic insufficiency, skeletal abnormalities, and a bone marrow dysfunction. In addition, SDS patients are predisposed to develop myelodysplastic syndromes (MDS) and a...

Full description

Bibliographic Details
Main Authors: Stéphanie Mourad, Mélanie Bilodeau, Mathieu Roussy, Louise Laramée, Luc Boulianne, Alexandre Rouette, Loubna Jouan, Patrick Gendron, Michel Duval, Pierre Teira, Josée Hébert, Henrique Bittencourt, Yves Pastore, Josette-Renée Landry, Sonia Cellot
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Oncology
Subjects:
Shwachman-Diamond syndrome
predisposition syndrome
pediatric patient
leukemia
molecular profiling
cooperating mutation
Online Access:https://www.frontiersin.org/article/10.3389/fonc.2019.00772/full

Internet

https://www.frontiersin.org/article/10.3389/fonc.2019.00772/full

Similar Items