Comprehensive analysis of the clinical feature, myeloid neoplasm-related gene mutation profiles and T cell diversity acquired pure red cell aplasia.

ABSTRACT:

Purpose

Acquired pure red cell aplasia (PRCA) is a kind of rare bone marrow failure disease characterized by destruction of erythrocyte by the immune system. However, the diverse etiologies of acquired PRCA make its pathogenesis largely unclear.

Materials and methods

We portrayed the clinicopathologic, mutation and TCR rearrangement profiles of 64 primary PRCA cases and 104 large granular lymphocytic leukemia (LGLL)-associated PRCA, and tried to reveal the association factors of CsA response.

Results

We found that gene mutations were detected in 39.7% of acquired PRCA who were older than 40 years, with DNMT3A, KMT2A and TP53 being the top 3 mutation genes. KMT2A mutation was only detected in patients with normal reticulocyte (Ret)%, while IDH1 mutation only occurred i

SUBMITTER: Gong Y 

PROVIDER: S-EPMC12552327 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature