Year: 2026
Type: article
Study design: Case Report
Abstract: Myeloproliferative neoplasms (MPNs) are a heterogeneous group of diseases originating from hematopoietic stem cell transformation, characterized by 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. Peripheral blood smear showed hypogranular neutrophils, eosinophils, basophils, and myeloid precur-sors. Absence of BCR::ABL1 and mutations in JAK2, CALR, and MPL ex-cluded 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 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 demonstrates how a multidisciplinary approach can identify atypical transcripts in MPN, guiding targeted therapy with TK inhibitors, resulting in effective treatment and molecular remission.
DOI: 10.3390/ijms27020656
Authors: Cosimo Barbato, Vito A. Lasorsa, Francesco Grimaldi, Santa Errichiello, Ida Pisano, Maurizio Capuozzo, Mariangela Capone, Viviana Izzo, Fabrizio Quarantelli, Alessandra Potenza, Roberta Visconti, Alessandra Galdiero, Angelo Zanniti, Ciro Del Prete, Teresa Femiano, Giuseppina Esposito, Novella Pugliese, Roberta Russo, Mario Capasso, Barbara Izzo
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,499
OpenAlex ID: W7119534336