Molecular diagnosis and targeted therapy of a pediatric chronic eosinophilic leukemia patient carrying TPM3-PDGFRB fusion

Pediatr Blood Cancer. 2011 Mar;56(3):463-6. doi: 10.1002/pbc.22800.

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.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antineoplastic Agents / therapeutic use
  • Benzamides
  • Child
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 5 / genetics
  • Chronic Disease
  • Humans
  • Hypereosinophilic Syndrome / diagnosis*
  • Hypereosinophilic Syndrome / drug therapy*
  • Hypereosinophilic Syndrome / genetics
  • Imatinib Mesylate
  • In Situ Hybridization, Fluorescence
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Piperazines / therapeutic use*
  • Pyrimidines / therapeutic use*
  • RNA, Messenger / genetics
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic / genetics
  • Treatment Outcome
  • Tropomyosin / genetics*

Substances

  • Antineoplastic Agents
  • Benzamides
  • Oncogene Proteins, Fusion
  • Piperazines
  • Pyrimidines
  • RNA, Messenger
  • TPM3 protein, human
  • Tropomyosin
  • Imatinib Mesylate
  • Receptor, Platelet-Derived Growth Factor beta