Document Type
Article
Publication Title
Genes, chromosomes & cancer
Abstract
NPM1 mutated non-AML myeloid neoplasms (MN; T p. L287F; 65%) than frameshift insertion/duplication (35%) with median variant allele frequency (VAF; 9.7%, range 5.1%-49.8%). Mutated NPM1 by IHC showed cytoplasmic positivity in 48% and positivity was associated with higher VAF. The median overall survival (OS) in this cohort was 70 months. Nine patients (26%) progressed to AML. OS in patients who progressed to AML was significantly shorter than the one of patients without progression to AML (OS 20 vs. 128 months, respectively, log rank p = 0.05). NPM1 mutated non-AML MN patients commonly had cytopenias, dysplasia, normal karyotype, mutations in multiple genes, and an unfavorable clinical outcome, including progression to AML. Our data demonstrated that IHC for NPM1 can be a useful supplementary tool to predict NPM1 mutation in some non-AML MN; however, genetic testing cannot be replaced by IHC assessment.
First Page
573
Last Page
580
DOI
10.1002/gcc.23139
Publication Date
10-1-2023
Recommended Citation
Kaseb, Hatem; Visconte, Valeria; Socha, Daniel S; Crane, Genevieve M; Durkin, Lisa; Cook, James R; Maciejewski, Jaroslaw P; Hsi, Eric D; and Rogers, Heesun J, "The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non-AML myeloid neoplasms." (2023). Oncology Articles. 2.
https://scholarlyworks.ohiohealth.com/oncology-articles/2