{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T13:30:55Z","timestamp":1782135055055,"version":"3.54.5"},"reference-count":10,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Myeloproliferative neoplasms (MPNs) are a heterogeneous group of diseases originating from hematopoietic stem cell transformation, characterized by the clonal proliferation of hematopoietic progenitors. A specific subset includes myeloid\/lymphoid neoplasms with eosinophilia and tyrosine kinase (TK) gene fusions, particularly involving PDGFR A or B, which are sensitive to TK inhibitor treatment. We report a case of a 21-year-old patient with a myeloproliferative\/myelodysplastic neoplasm, presenting with hyperleukocytosis, anemia, thrombocytopenia, and elevated LDH. The peripheral blood smear showed hypogranular neutrophils, eosinophils, basophils, and myeloid precursors. The absence of BCR::ABL1 and mutations in JAK2, CALR, and MPL excluded common MPNs. Cytogenetic analysis revealed a rearrangement between chromosomes 5 and 14. FISH analysis confirmed an inverted insertion from chromosome 5 to chromosome 14, involving the PDGFRB gene. WGS and RNAseq identified a fusion between PDGFRB and CCDC88C, causing the constitutive activation of PDGFRB. The fusion gene was confirmed by sequencing. This allowed for targeted therapy with a tyrosine kinase inhibitor (TKI), leading to molecular remission monitored by RT-qPCR. This case highlights how a multidisciplinary approach can identify atypical transcripts in MPN, guiding targeted therapy with TK inhibitors, thus resulting in effective treatment and molecular remission.<\/jats:p>","DOI":"10.3390\/ijms27020656","type":"journal-article","created":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T08:09:06Z","timestamp":1767946146000},"page":"656","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Targeted Therapy for a Rare PDGFRB-Rearranged Myeloproliferative Neoplasm: A Case Report"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9079-1455","authenticated-orcid":false,"given":"Cosimo","family":"Barbato","sequence":"first","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9552-7192","authenticated-orcid":false,"given":"Vito A.","family":"Lasorsa","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Grimaldi","sequence":"additional","affiliation":[{"name":"Hematology Section, Department of Clinical Medicine and Surgery, University of Naples \u201cFederico II\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Santa","family":"Errichiello","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida","family":"Pisano","sequence":"additional","affiliation":[{"name":"UOSD Medical Genetics Laboratory, ASL Napoli 1 Centro, 80141 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Capuozzo","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Capone","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-7569","authenticated-orcid":false,"given":"Viviana","family":"Izzo","sequence":"additional","affiliation":[{"name":"UOC of Clinical Pharmacology, University Hospital \u2018San Giovanni di Dio e Ruggi d\u2019Aragona\u2019, 84131 Salerno, Italy"},{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d, University of Salerno, 84084 Fisciano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0744-5734","authenticated-orcid":false,"given":"Fabrizio","family":"Quarantelli","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9233-2998","authenticated-orcid":false,"given":"Alessandra","family":"Potenza","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Visconti","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Galdiero","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Zanniti","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciro Del","family":"Prete","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Femiano","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Esposito","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2714-5109","authenticated-orcid":false,"given":"Novella","family":"Pugliese","sequence":"additional","affiliation":[{"name":"Hematology Section, Department of Clinical Medicine and Surgery, University of Naples \u201cFederico II\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3624-7721","authenticated-orcid":false,"given":"Roberta","family":"Russo","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3306-1259","authenticated-orcid":false,"given":"Mario","family":"Capasso","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7021-0367","authenticated-orcid":false,"given":"Barbara","family":"Izzo","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"a009100","DOI":"10.1101\/cshperspect.a009100","article-title":"Structural and functional properties of platelet-derived growth factor and stem cell factor receptors","volume":"5","author":"Heldin","year":"2013","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1093\/hmg\/ddx081","article-title":"PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis","volume":"26","author":"Arts","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1182\/blood.2022015850","article-title":"International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: Integrating morphologic, clinical, and genomic data","volume":"140","author":"Arber","year":"2022","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1111\/his.15021","article-title":"Myeloid\/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases","volume":"83","author":"Saft","year":"2023","journal-title":"Histopathology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1038\/s41375-023-01958-1","article-title":"Myeloid\/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: Reevaluation of the defining characteristics in a registry-based cohort","volume":"37","author":"Metzgeroth","year":"2023","journal-title":"Leukemia"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s12185-020-03006-5","article-title":"Beneficial tyrosine kinase inhibitor therapy in a patient with relapsed BCR-ABL1-like acute lymphoblastic leukemia with CCDC88C-PDGFRB fusion","volume":"113","author":"Oya","year":"2021","journal-title":"Int. J. Hematol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.semcancer.2004.03.002","article-title":"Targeted treatment of hypereosinophilic syndromes and chronic eosinophilic leukemias with imatinib mesylate","volume":"14","author":"Gotlib","year":"2004","journal-title":"Semin. Cancer Biol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s00277-021-04712-8","article-title":"Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement","volume":"101","author":"Quintini","year":"2022","journal-title":"Ann. Hematol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1002\/gcc.22153","article-title":"Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid\/lymphoid neoplasms","volume":"53","author":"Gosenca","year":"2014","journal-title":"Genes Chromosomes Cancer"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/2\/656\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T08:10:26Z","timestamp":1767946226000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/2\/656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,8]]},"references-count":10,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["ijms27020656"],"URL":"https:\/\/doi.org\/10.3390\/ijms27020656","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,8]]}}}