An unusual case of pure erythroid leukemia with normal karyotype and NPM1 mutation

Authors

Hovsep Ohan, Henry Ford HealthFollow
Juan Gomez-Gelvez, Henry Ford HealthFollow
Yulei Shen, Henry Ford HealthFollow
Sharmila Ghosh, Henry Ford HealthFollow
John Carey, jcarey1@hfhs.orgFollow
Kedar Inamdar, Henry Ford HealthFollow
Wei Liu, Henry Ford HealthFollow

Recommended Citation

Ohan H, Gomez-Gelvez J, Shen Y, Ghosh S, Carey J, Inamdar K, and Liu W. An unusual case of pure erythroid leukemia with normal karyotype and NPM1 mutation. J Hematop 2024.

Document Type

Article

Publication Date

9-1-2024

Publication Title

J Hematop

Abstract

Pure erythroid leukemia (PEL) is an extremely rare subtype of acute myeloid leukemia (AML). Although not specific, PEL is almost uniformly associated with complex karyotype and TP53 mutations. Given the rarity of the disease, our understanding of its cytogenetic and molecular features deems incomplete. We aim to complement existing literature by presenting an unusual case of PEL. The case is comprehensively worked up with multiple modalities. We present for the first time a case of PEL with unusual cytogenetic and molecular features: normal karyotype with absence of TP53 mutations and presence of NPM1 and NRAS mutations. This is a valuable addition to literature, expanding our understanding of molecular and cytogenetic spectra of PEL.

Medical Subject Headings

Humans; Nucleophosmin; Mutation; Nuclear Proteins; Leukemia, Erythroblastic, Acute; Karyotype; Male; Tumor Suppressor Protein p53; Female; Middle Aged

PubMed ID

39030335

ePublication

ePub ahead of print

Volume

17

Issue

3

First Page

163

Last Page

166