title: Molecular diagnosis and targeted therapy of a pediatric chronic eosinophilic leukemia patient carrying TPM3-PDGFRB fusion.
abstract: We report a rare pediatric chronic eosinophilic leukemia (CEL) case of an 8-year-old male whose leukemic cells carried t(1; 5)(q21; q33) chromosomal abnormality. Sequencing analysis confirmed a TPM3-PDGFRB fusion, and the breakpoint was the same as adult patient. Targeted therapy with imatinib induced a rapid hematologic response and reduction of TPM3-PDGFRB transcripts as monitored by reverse transcription real-time PCR (RT-qPCR). We then established an RT-qPCR assay applicable to detection of all possible PDGFRB fusions and also validated this assay in the patient. These data should provide a valuable reference for management of pediatric CEL.
authors.affiliation: Molecular Diagnostics Laboratory, Department of Biomedical Sciences and Key Laboratory of Ministry of Education for Cell Biology and Tumor Cell Engineering, School of Life Sciences, Xiamen University, Xiamen, Fujian, China.
authors.forename: Zhipeng
authors.initials: Z
authors.lastname: Li
authors.forename: Rong
authors.initials: R
authors.lastname: Yang
authors.forename: Jiangning
authors.initials: J
authors.lastname: Zhao
authors.forename: Ruirong
authors.initials: R
authors.lastname: Yuan
authors.forename: Quanyi
authors.initials: Q
authors.lastname: Lu
authors.forename: Qingge
authors.initials: Q
authors.lastname: Li
authors.forename: William
authors.initials: W
authors.lastname: Tse
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001549:Benzamides; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002908:Chronic Disease; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010879:Piperazines / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D012333:RNA, Messenger / Q000235:genetics; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic / Q000235:genetics; D016896:Treatment Outcome; D014335:Tropomyosin / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D015514:Oncogene Proteins, Fusion; D010879:Piperazines; D011743:Pyrimidines; D012333:RNA, Messenger; C498783:TPM3 protein, human; D014335:Tropomyosin; D000068877:Imatinib Mesylate; D020797:Receptor, Platelet-Derived Growth Factor beta