diagnosis

Abstract Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased mortality and malignancy risk, yet the determinants of clonal expansion remain poorly understood. We performed sequencing at a depth of coverage of >4000× for CHIP mutations in 6976…

Meet Evan. In a recent conversation with the Aplastic Anemia and MDS International Foundation, he shared his journey from paroxysmal nocturnal hemoglobinuria (PNH) diagnosis through treatment and survival. Evan, please tell us a little about yourself. I’m 31 years old. I’m based…

Please find all content at the link.

Abstract The TP53 gene ensures genetic fidelity by regulating cell cycle kinetics and apoptosis. In myeloid neoplasms, TP53 mutation is witnessed in 13% of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Alterations in TP53 or its respective protein is…

Immunohistochemistry (IHC) could represent a biomarker for the early detection of TP53 mutations and for the prediction of a TP53 allelic state in patients with myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML), according to data from an observational trial…

TP53 mutations are found in 10-15% of myeloid neoplasms and are one of its most important prognostic factors. Emerging data show that TP53 mutational allele status is a key determinant of clinical outcomes, with multi-hit TP53 mutant myeloid neoplasms having a very poor prognosis…

A phase 2 study found that eprenetapopt plus azacitidine induced responses in patients with TP53-mutated myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). This combination may be an opportune bridge to transplantation, according to David A. Sallman, MD, of the…

Abstract With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is needed to inform interventional…

Abstract Background: RNA splicing factor (SF) mutations are associated with adverse outcomes in patients with acute myeloid leukemia (AML) and higher-risk myelodysplastic syndromes/neoplasms (HR-MDS). Preclinical data suggest that aberrant RNA splicing can lead to the generation…