<i>MPRIP::PDGFRB</i> Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrangements of the <i>PDGFRB</i> gene, particularly the <i>ETV6::PDGFRB</i> rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the <i>MPRIP::PDGFRB</i> fusion gene are rarely documented. In this case report, we present a 32-year-old previously healthy Thai male who presented to the hospital with constitutional symptoms and marked splenomegaly. His complete blood count revealed mild anemia, marked leukocytosis with hypereosinophilia, and mild thrombocytopenia. A bone marrow study showed hypercellular marrow with granulocytic hyperplasia extensively involved with eosinophils, without morphological evidence of blasts. Conventional cytogenetics identified a t (5; 17) (q33; p13). Further targeted RNA analysis using next-generation sequencing (NGS) detected a fusion gene involving <i>MPRIP::PDGFRB</i>. The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and <i>MPRIP::PDGFRB</i> rearrangement in the chronic-phase disease and was initiated on oral imatinib at a daily dose of 100 mg. One month after initiating the treatment, the patient achieved a hematological response consistent with complete response (CR) criteria. Imatinib therapy has been well-tolerated without reported adverse events, and a 1-year molecular assessment confirmed the achievement of complete molecular response (CMR).

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Journal
Case Reports in Hematology
Published
2025-01-01
DOI
https://doi.org/10.1155/crh/7098722
Primary Topic
Eosinophilic Disorders and Syndromes
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article
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article

MPRIP::PDGFRB Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions

Tanapun Thamgrang, Taksin Ukkahad
Case Reports in Hematology
Eosinophilic Disorders and Syndromes
article

MPRIP::PDGFRB Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions

Tanapun Thamgrang, Taksin Ukkahad
article en

Abstract

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions (MLN-TK) represent rare hematological malignancies driven by pathological fusion genes involving tyrosine kinase genes. Among these, rearrangements of the <i>PDGFRB</i> gene, particularly the <i>ETV6::PDGFRB</i> rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the <i>MPRIP::PDGFRB</i> fusion gene are rarely documented. In this case report, we present a 32-year-old previously healthy Thai male who presented to the hospital with constitutional symptoms and marked splenomegaly. His complete blood count revealed mild anemia, marked leukocytosis with hypereosinophilia, and mild thrombocytopenia. A bone marrow study showed hypercellular marrow with granulocytic hyperplasia extensively involved with eosinophils, without morphological evidence of blasts. Conventional cytogenetics identified a t (5; 17) (q33; p13). Further targeted RNA analysis using next-generation sequencing (NGS) detected a fusion gene involving <i>MPRIP::PDGFRB</i>. The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and <i>MPRIP::PDGFRB</i> rearrangement in the chronic-phase disease and was initiated on oral imatinib at a daily dose of 100 mg. One month after initiating the treatment, the patient achieved a hematological response consistent with complete response (CR) criteria. Imatinib therapy has been well-tolerated without reported adverse events, and a 1-year molecular assessment confirmed the achievement of complete molecular response (CMR).

Case Reports in HematologyVol. 2025(1)
Princess of Naradhiwas University (TH), Phramongkutklao Hospital (TH)
Good health and well-being
Openalex Percentile: Top 75%
Eosinophilic Disorders and Syndromes
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<i>MPRIP::PDGFRB</i> Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions — Tanapun Thamgrang, Taksin Ukkahad · Case Reports in Hematology (2025) | TGRS Research Map | TGRS