Genetic Mutations May Impact Outcomes in Aplastic Anemia

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Genetic Mutations May Impact Outcomes in Aplastic Anemia
Genetic Mutations May Impact Outcomes in Aplastic Anemia

(HealthDay News) -- Certain genetic mutations may be correlated with response to therapy and prognosis in aplastic anemia, according to research published in the July 2 issue of the New England Journal of Medicine.

Tetsuichi Yoshizato, M.D., of Kyoto University in Japan, and colleagues performed next-generation sequencing and array-based karyotyping on 668 blood samples from 439 patients with aplastic anemia. Somatic mutations and clonal hematopoiesis were assessed in relation to patient characteristics and clinical outcomes.

The researchers found that somatic mutations in myeloid cancer candidate genes were present in one-third of patients with aplastic anemia. Clonal hematopoiesis was observed in 47 percent of patients, most often as acquired mutations. The prevalence of the mutations increased with age. Mutations in PIGA and BCOR and BCORL1 were associated with stronger response to immunosuppressive therapy and better outcomes, including longer, and higher rates of, overall and progression-free survival. Mutations in a subgroup of genes that included DNMT3A and ASXL1 were associated with poorer outcomes. However, clonal dynamics were highly variable and did not necessarily predict outcomes in individual patients with aplastic anemia.

"Close monitoring of clonal hematopoiesis by means of both deep sequencing and SNP array karyotyping will need to be combined with clinical evaluation to estimate prognosis and to guide treatment of patients with aplastic anemia," the authors write.

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