Novel BMP2K::PDGFRA fusion in an unusual myeloid/lymphoid neoplasm with eosinophilia

Ravi Tej Bommu; Laila O Mnayor; Mehrnoosh Tashakori; Sophia Yohe

doi:10.1007/s12308-025-00661-7

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Novel BMP2K::PDGFRA fusion in an unusual myeloid/lymphoid neoplasm with eosinophilia

Journal article

Open access

Peer reviewed

Novel BMP2K::PDGFRA fusion in an unusual myeloid/lymphoid neoplasm with eosinophilia

Ravi Tej Bommu, Laila O Mnayor, Mehrnoosh Tashakori and Sophia Yohe

Journal of hematopathology, Vol.18(1), 48

10/24/2025

DOI: 10.1007/s12308-025-00661-7

PMCID: PMC12549758

PMID: 41131416

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Abstract

Myeloid and/or lymphoid neoplasms with eosinophilia PDGFRA gene fusions usually occur with FIP1L1 as the partner gene; however, novel partners have been described. These novel partners are sometimes responsive to tyrosine kinase inhibitor therapy. We describe here a patient with a PDGFRA fusion with a previously undescribed partner gene, BMP2K. RNA sequencing with the Archer Fusion Plex Pan Solid Tumor Panel (IDT) was used to detect fusions. DNA sequencing using a custom IDT panel was also performed. An in-frame BMP2K::PDGFRA fusion was detected in a patient who had an ill-defined myeloid neoplasm with eosinophilia. The myeloid neoplasm had a prominent mast cell component and myeloid blast component in the lymph node, while the bone marrow showed hypercellularity, eosinophilia, and myelofibrosis. DNA NGS revealed a pathogenic TP53 mutation but was negative for mutations in other genes including KIT, JAK2, CALR, and MPL. Given that PDGFRA fusions with novel fusion partners may respond to tyrosine kinase inhibitor therapy, partner agnostic testing methods should be considered either up front or as reflex testing in patients with myeloid and/or lymphoid neoplasms with blood, bone marrow, or tissue eosinophilia.

Eosinophilia - diagnosis

Eosinophilia - genetics

Eosinophilia - pathology

Female

Humans

Male

Middle Aged

Myeloproliferative Disorders - diagnosis

Myeloproliferative Disorders - genetics

Oncogene Proteins, Fusion - genetics

Receptor, Platelet-Derived Growth Factor alpha - genetics

Details

Title: Subtitle: Novel BMP2K::PDGFRA fusion in an unusual myeloid/lymphoid neoplasm with eosinophilia
Creators: Ravi Tej Bommu - University of Iowa
Laila O Mnayor - Hartford Hospital
Mehrnoosh Tashakori - University of Minnesota
Sophia Yohe - University of Minnesota
Resource Type: Journal article
Publication Details: Journal of hematopathology, Vol.18(1), 48
DOI: 10.1007/s12308-025-00661-7
PMID: 41131416
PMCID: PMC12549758
NLM abbreviation: J Hematop
ISSN: 1868-9256
eISSN: 1865-5785
Publisher: Springer
Language: English
Date published: 10/24/2025
Academic Unit: Pathology
Record Identifier: 9985016424102771

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