Diagnostic Utility of Immunohistochemistry in Detection of NPM1 Mutations in Acute Myeloid Leukemia With a Patchy Distribution

Authors

Qing Wei
Sa A Wang
Sanam Loghavi
Hong Fang
L Jeffrey Medeiros
Wei Wang

Language

English

Publication Date

4-1-2024

Journal

eJHaem

DOI

10.1002/jha2.866

PMID

38633114

PMCID

PMC11020114

PubMedCentral® Posted Date

2-19-2024

PubMedCentral® Full Text Version

Post-print

Abstract

Nucleophosmin 1 (NPM1) mutations occur in approximately one‐third cases of adult de novo acute myeloid leukemia (AML). Identification of NPM1 mutations is important for classification, risk stratification, tailored therapy, and monitoring minimal residual disease. Mutational analysis is widely used for detecting NPM1 mutations. Immunochemistry assessing abnormal cytoplasmic localization of NPM1 protein has been used as a surrogate marker for NPM1 mutations. We present a case of AML with mutated NPM1 that was missed by sequencing analysis but detected by immunohistochemistry. This case highlights the value of immunohistochemistry in identifying NPM1 mutations in a subset of AML cases.

Keywords

acute myeloid leukemia, immunohistochemistry, NPM1

Published Open-Access

yes

Recommended Citation

Wei, Qing; Wang, Sa A; Loghavi, Sanam; et al., "Diagnostic Utility of Immunohistochemistry in Detection of NPM1 Mutations in Acute Myeloid Leukemia With a Patchy Distribution" (2024). Faculty, Staff and Student Publications. 6686.
https://digitalcommons.library.tmc.edu/uthgsbs_docs/6686