TP53 mutations: The dawn of Shwachman clones

Abstract

In this issue of Blood, Xia et al1 screened for an early onset of clonal hematopoiesis in 2 rare genetic syndromes characterized by chronic neutropenia and a high risk of leukemia, ELANE neutropenia and Shwachman-Diamond syndrome (SDS), and found acquired TP53 mutations in SDS.