The Role of Nucleophosmin 1 () Mutation in the Diagnosis and Management of Myeloid Neoplasms

Overview

Journal Life (Basel)

Specialty Biology

Date 2022 Jan 21

PMID 35054502

Authors

Katalin Kelemen

Affiliations

Soon will be listed here.

Abstract

Nucleophosmin (NPM1) is a multifunctional protein with both proliferative and growth-suppressive roles in the cell. In humans, is involved in tumorigenesis via chromosomal translocations, deletions, or mutation. Acute myeloid leukemia (AML) with mutated , a distinct diagnostic entity by the current WHO Classification of myeloid neoplasm, represents the most common diagnostic subtype in AML and is associated with a favorable prognosis. The persistence of mutation in AML at relapse makes this mutation an ideal target for minimal measurable disease (MRD) detection. The clinical implication of this is far-reaching because -mutated AML is currently classified as being of standard risk, with the best treatment strategy (transplantation versus chemotherapy) yet undefined. Myeloid neoplasms with mutations and <20% blasts are characterized by an aggressive clinical course and a rapid progression to AML. The pathological classification of these cases remains controversial. Future studies will determine whether gene mutation may be sufficient for diagnosing -mutated AML independent of the blast count. This review aims to summarize the role of in normal cells and in human cancer and discusses its current role in clinical management of AML and related myeloid neoplasms.

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