携带 TPM3-PDGFRB 融合的小儿慢性嗜酸性白血病患者的分子诊断和靶向治疗。

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

机构信息

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.

出版信息

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

DOI:10.1002/pbc.22800

PMID:21072821

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.

摘要

我们报告了一例罕见的儿童慢性嗜酸性白血病（CEL）病例，该患者为 8 岁男性，其白血病细胞携带 t(1; 5)(q21; q33)染色体异常。测序分析证实存在 TPM3-PDGFRB 融合，且断点与成人患者相同。伊马替尼的靶向治疗诱导了快速血液学反应，并通过逆转录实时 PCR（RT-qPCR）监测到 TPM3-PDGFRB 转录本的减少。然后，我们建立了一种适用于检测所有可能的 PDGFRB 融合的 RT-qPCR 检测方法，并在该患者中进行了验证。这些数据应为儿童 CEL 的治疗提供有价值的参考。