{"title":"MPRIP: PDGFRB融合基因:成人髓/淋巴肿瘤嗜酸性粒细胞增多和酪氨酸激酶基因融合的罕见病例报告。","authors":"Taksin Ukkahad, Tanapun Thamgrang","doi":"10.1155/crh/7098722","DOIUrl":null,"url":null,"abstract":"<p><p>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).</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2025 ","pages":"7098722"},"PeriodicalIF":0.7000,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227262/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>MPRIP::PDGFRB</i> Fusion Gene: A Rare Case Report of Adult Myeloid/Lymphoid Neoplasm With Eosinophilia and Tyrosine Kinase Gene Fusions.\",\"authors\":\"Taksin Ukkahad, Tanapun Thamgrang\",\"doi\":\"10.1155/crh/7098722\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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).</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":\"2025 \",\"pages\":\"7098722\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-06-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227262/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/crh/7098722\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/crh/7098722","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
MPRIP::PDGFRB 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 PDGFRB gene, particularly the ETV6::PDGFRB rearrangement, are frequently observed as pathogenic mutations. Conversely, instances of the MPRIP::PDGFRB 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 MPRIP::PDGFRB. The patient was diagnosed with myeloid/lymphoid neoplasms with eosinophilia and MPRIP::PDGFRB 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).