Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.

ABSTRACT:

Background

In patients with acquired aplastic anemia, destruction of hematopoietic cells by the immune system leads to pancytopenia. Patients have a response to immunosuppressive therapy, but myelodysplastic syndromes and acute myeloid leukemia develop in about 15% of the patients, usually many months to years after the diagnosis of aplastic anemia.

Methods

We performed next-generation sequencing and array-based karyotyping using 668 blood samples obtained from 439 patients with aplastic anemia. We analyzed serial samples obtained from 82 patients.

Results

Somatic mutations in myeloid cancer candidate genes were present in one third of the patients, in a limited number of genes and at low initial variant allele frequency. Clonal hematopoiesis was detected in 47% of th

SUBMITTER: Yoshizato T 

PROVIDER: S-EPMC7478337 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature