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Objective@#To investigate the clinical features and therapeutic strategies of childhood myeloid neoplasms associated with eosinophilia and platelet-derived growth factor receptor beta (PDGFRB) gene rearrangement.@*Methods@#Clinical data of myeloid neoplasms associated with eosinophilia and t (1;5) (q21;q33) chromosomal translocation of PDGFRB gene rearrangement in a child hospitalized in Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences on May 2015 was collected and analyzed. Using'eosinophilia child’and'PDGFRB’as keywords, the relevant reports in literature were searched from China National Knowledge Infrastructure (CNKI), Wanfang Data Knowledge Service Platform, and Biomedical Literature Database (PubMed) until April 2017.@*Results@#The patient was a boy, 19 months old, who began to get sick at six months after birth, with the main clinical manifestations of high fever, diarrhea, epistaxis and hepatosplenomegaly. Peripheral blood smear showed a significant elevation in white blood cells (127×109/L) and eosinophils(20.32×109/L). Bone marrow examination showed hyperplastic marrow, increased proportion of granulocytes, apparent visible eosinophils and decreased megakaryocytes. Chromosome karyotype detection revealed t (1; 5) (q21; q33) translocation. Fluorescence in situ hybridization (FISH) examination uncovered that PDGFRB gene rearrangement was positive. The final diagnosis was myeloid neoplasms with eosinophilia and PDGFRB gene rearrangement. After treatment with oral imatinib 100 mg, once a day for 2 months, complete hematologic remission, complete cytogenetic and molecular remission were all achieved. The relevant literature was reviewed, no Chinese cases had been reported, 6 reports in English literature have complete clinical data. Four cases had t (1; 5) translocation. Four pediatric patients treated with imatinib achieved complete remission.@*Conclusion@#Myeloid neoplasms associated with eosinophilia and PDGFRB gene rearrangement is extremely rare in children. Imatinib treatment can make these patients quickly achieve complete hematologic remission, complete cytogenetic and molecular remission. Imatinib should be recommended as the first line treatment of these patients.
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Introduction: Myeloproliferative neoplasms with PDGFRA, PDGFRB and FGFR1 rearrangements are reported to be very rare entities. Myeloid neoplasms with PDGFRB rearrangement have prominent eosinophilia, neutrophilia or monocytosis and presence of t (5;12)(q31~q33;p12-13) or variant translocation. Case Report: We report a 55 years old female patient who presented with eosinophilia along with predominant eosinophil precursors on bone marrow and concomitant isolated del (5q) and PDGFRB gene rearrangement which is an infrequent and rare finding. Conclusion: isolated acquired deletion of the long arm of chromosome 5 (del 5q) also known as 5q- syndrome, is a distinct hematologic disorder reported to be primary myelodys plastic syndrome which is found in females of middle age and usually presents with macrocytic anemia, oval macrocytes, with white blood cell counts normal or reduced, platelet counts normal or elevated and bone marrow exhibitery throid hypoplasia with megakaryocytes showing hypolobated nuclei
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Myeloid neoplasm with the platelet-derived growth factor receptor beta (PDGFRB) rearrangement is a myeloproliferative neoplasm. Patients with this disease often have prominent eosinophilia or monocytosis and the presence of t(5;12)(q31~33;p12) or a variant translocation with expression of an ETV6-PDGFRB fusion gene or the PDGFRB rearrangement. We report an 82-year-old woman with a myeloid neoplasm, with the PDGFRB rearrangement, who presented with a dry cough, eosinophilia and thrombocytosis. The chromosome study of the bone marrow showed 46,XX,ins(1;5)(q22;q33q13.3), and fluorescence in situ hybridization (FISH) analysis revealed rearrangement of the PDGFRB gene. The patient was successfully treated with low-dose imatinib.