학술논문
Characteristics and clinical behavior of acute myeloid leukemia harboring rare non-A/B/D nucleophosmin (NPM1) gene mutation subtypes: a single-center experience and review of the literature.
Document Type
Article
Author
Mutti, Martina; Cordella, Stefano; Parisotto, Angelica; Bettelli, Francesca; Morselli, Monica; Cuoghi, Angela; Bresciani, Paola; Messerotti, Andrea; Gilioli, Andrea; Pioli, Valeria; Giusti, Davide; Colaci, Elisabetta; Cassanelli, Luca; Paolini, Ambra; Martinelli, Silvia; Maffei, Rossana; Riva, Giovanni; Nasillo, Vincenzo; Sarti, Mario; Trenti, Tommaso
Source
Subject
*ACUTE myeloid leukemia
*LITERATURE reviews
*GENETIC mutation
*NUCLEOPHOSMIN
*SOMATIC mutation
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Language
ISSN
1042-8194
Abstract
This document explores the characteristics and clinical implications of rare non-A/B/D nucleophosmin (NPM1) gene mutations in acute myeloid leukemia (AML) patients. NPM1 gene mutations are common in AML, but there are numerous variations. The document reviews various studies on the prognostic impact of these rare mutations, which have yielded conflicting results. The authors conducted their own study and found that patients with rare non-A/B/D NPM1 mutations were younger at diagnosis and had lower white blood cell counts compared to those with A/B/D mutations. They also observed a higher frequency of FLT3-TKD mutations in patients with rare NPM1 mutations. The study emphasizes the need for larger multicenter studies to further understand the genetic characteristics and prognostic implications of non-A/B/D NPM1-mutated AML. [Extracted from the article]