Qu Shi-Qiang, Ai Xiao-Fei, Li Cheng-Wen, Li Qing-Hua, Xu Ze-Feng, Qin Tie-Jun, Zhang Yue, Xiao Zhi-Jian
Chinese Academy of Medical Sciences, Tianjin, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1216-20.
The aim of study is to explore the characteristics of cytogenetics and molecular biology in patients with eosinophilia. Bone marrow samples from 79 cases of eosinophilia (AEoC ≥ 1.5×10(9)/L) were detected for PDGFRA/B and FGFR1 gene rearrangement by fluorescence in situ hybridization and reverse transcription polymerase chain reaction (RT-PCR). Forty-four samples were detected for T cell receptor (TCR) clonal rearrangement by PCR. The results showed that among 76 cases the FIP1L1/PDGFRA (F/P) fusion gene was detected in 19 cases, the CHIC2 deletion was detected in 19 cases, the PDGFRA rearrangement was detected in 4 cases, and no FIP1L1 rearrangement was detected. According to the 2008 WHO classification, diagnosis were revised as myeloid neoplasms with PDGFRA/B rearrangement in 20 (42%) of 48 patients and 5 (83%) of 6 patients with hypereosinophilia syndrome (HES) or chronic eosinophilic leukemia (CEL), respectively. The diagnosis in (17%) of 6 patients with CEL was revised as chronic eosinophilic leukemia, not otherwise as specified (CEL-NOS). Clonal cytogenetic abnormalities were detected in 1 case of CEL-NOS and 3 cases with PDGFRB rearrangement. Karyotypic abnormalities involved in chromosome 4q12 were not detected in all of the 21 cases with PDGFRA rearrangement. The clonal TCR gene rearrangement were detected in 33% (5/15), 40% (6/15), and 36% (5/14) cases with PDGFRA/B rearrangement, HES, or secondary eosinophilia, respectively. There was no statistical difference in incidence rate among 3 subgroups. It is concluded that PDGFRA/B rearrangement can be detected in many cases of HES or CEL. Interphase FISH and PCR testing can enhance the diagnostic rate of myeloid neoplasms with PDGFRA/B rearrangement.
本研究旨在探讨嗜酸性粒细胞增多患者的细胞遗传学和分子生物学特征。采用荧光原位杂交和逆转录聚合酶链反应（RT-PCR）检测79例嗜酸性粒细胞增多（绝对嗜酸性粒细胞计数≥1.5×10⁹/L）患者骨髓样本中的血小板衍生生长因子受体α/β（PDGFRA/B）和纤维母细胞生长因子受体1（FGFR1）基因重排。通过聚合酶链反应（PCR）检测44例样本中的T细胞受体（TCR）克隆重排。结果显示，76例患者中，19例检测到FIP1L1/PDGFRA（F/P）融合基因，19例检测到CHIC2缺失，4例检测到PDGFRA重排，未检测到FIP1L1重排。根据2008年世界卫生组织（WHO）分类，48例患者中有20例（42%）诊断修订为伴有PDGFRA/B重排的髓系肿瘤，6例高嗜酸性粒细胞综合征（HES）或慢性嗜酸性粒细胞白血病（CEL）患者中有5例（83%）诊断修订。6例CEL患者中有1例（17%）诊断修订为慢性嗜酸性粒细胞白血病，不另作特殊说明（CEL-NOS）。1例CEL-NOS和3例伴有PDGFRB重排的患者检测到克隆性细胞遗传学异常。21例伴有PDGFRA重排的患者均未检测到涉及4号染色体q12的核型异常。伴有PDGFRA/B重排、HES或继发性嗜酸性粒细胞增多症的患者中，分别有33%（5/15）、40%（6/15）和36%（5/14）检测到克隆性TCR基因重排。3个亚组的发生率无统计学差异。结论：许多HES或CEL病例可检测到PDGFRA/B重排。间期荧光原位杂交和PCR检测可提高伴有PDGFRA/B重排的髓系肿瘤的诊断率。
