Molecular diagnosis and targeted therapy of a pediatric chronic eosinophilic leukemia patient carrying TPM3‐PDGFRB Fusion
Copyright policy )Molecular diagnosis and targeted therapy of a pediatric chronic eosinophilic leukemia patient carrying TPM3‐PDGFRB Fusion
AbstractWe 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. Pediatr Blood Cancer 2011;56:463–466. © 2010 Wiley‐Liss, Inc.
- Rutgers, The State University of New Jersey United States
- Novartis (Singapore) Singapore
- West Virginia University Institute of Technology United States
- Novartis (Switzerland) Switzerland
- Zhongshan Hospital of Xiamen University China (People's Republic of)
Adult, Male, Oncogene Proteins, Fusion, Antineoplastic Agents, IMATINIB, Piperazines, Translocation, Genetic, Receptor, Platelet-Derived Growth Factor beta, Hypereosinophilic Syndrome, Humans, TRANSLOCATIONS, RNA, Messenger, Child, In Situ Hybridization, Fluorescence, Reverse Transcriptase Polymerase Chain Reaction, GENE, CLUSTER REGION, Pyrimidines, Treatment Outcome, CHRONIC MYELOPROLIFERATIVE DISORDERS, Chromosomes, Human, Pair 1, PDGFRB, Benzamides, Chronic Disease, Imatinib Mesylate, Chromosomes, Human, Pair 5, GROWTH-FACTOR RECEPTOR
Adult, Male, Oncogene Proteins, Fusion, Antineoplastic Agents, IMATINIB, Piperazines, Translocation, Genetic, Receptor, Platelet-Derived Growth Factor beta, Hypereosinophilic Syndrome, Humans, TRANSLOCATIONS, RNA, Messenger, Child, In Situ Hybridization, Fluorescence, Reverse Transcriptase Polymerase Chain Reaction, GENE, CLUSTER REGION, Pyrimidines, Treatment Outcome, CHRONIC MYELOPROLIFERATIVE DISORDERS, Chromosomes, Human, Pair 1, PDGFRB, Benzamides, Chronic Disease, Imatinib Mesylate, Chromosomes, Human, Pair 5, GROWTH-FACTOR RECEPTOR
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