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一例伴有FIP1L1-PDGFRA重排但无明显外周血嗜酸性粒细胞增多的髓系肿瘤病例。

A case of myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia.

作者信息

Wang Jing, Zhang Qiguo, Zeng Hui, Chen Bing, Ouyang Jian

机构信息

Department of Hematology, Drum Tower Hospital, Medical School of Nanjing University, 321# Zhongshan Road, Nanjing 210008, PR China.

出版信息

Pharmacogenomics. 2016;17(2):99-102. doi: 10.2217/pgs.15.159. Epub 2015 Dec 15.

Abstract

We report a 29-year-old man with double hip pain and lower limb weakness for 6 months with myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia. Nested reverse transcription polymerase chain reaction demonstrated that bone marrow was positive for FIP1L1-PDGFRA rearrangement. The patient consequently received imatinib treatment at a dosage of 100 mg daily. Two weeks later, white blood cell counts were normalized. The double hip pain disappeared gradually. FIP1L1-PDGFRA fusion by reverse transcription polymerase chain reaction was still positive at 3 months. His 9-month post-treatment complete blood cell count, peripheral blood and bone marrow biopsy were all normal. FIP1L1 was unrearranged. The patient continues to be treated with imatinib 100 mg daily for more than 2 years with no recurrence. The presence of PDGFRA rearrangement in this case conferred a high sensitivity to imatinib treatment and a favorable clinical outcome.

摘要

我们报告了一名29岁男性,有双侧髋关节疼痛和下肢无力6个月,患有伴有FIP1L1-PDGFRA重排的髓系肿瘤,外周血嗜酸性粒细胞无明显增多。巢式逆转录聚合酶链反应显示骨髓FIP1L1-PDGFRA重排阳性。该患者因此接受了每日100 mg剂量的伊马替尼治疗。两周后,白细胞计数恢复正常。双侧髋关节疼痛逐渐消失。3个月时,逆转录聚合酶链反应检测FIP1L1-PDGFRA融合仍为阳性。治疗9个月后,他的全血细胞计数、外周血和骨髓活检均正常。FIP1L1无重排。该患者继续接受每日100 mg伊马替尼治疗超过2年,无复发。本例中存在PDGFRA重排,对伊马替尼治疗具有高敏感性和良好的临床结局。

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