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

ABSTRACT: 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 acute myeloid leukemia (AML), typically during adulthood and associated with TP53 mutations. Although most SDS diagnoses are established in childhood, the nature and frequency of serial bone marrow cell investigations during the patients' lifetime remain a debatable topic. The precise molecular mechanisms leading to AML progression in SDS patients have not been fully elucidated because the patient cohorts are small and most disease monitoring is conducted using standard histological

SUBMITTER: Mourad S 

PROVIDER: S-EPMC6702516 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature