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一名患有t(2;5)(q37;q31)的慢性嗜酸性粒细胞白血病患者中涉及PDGFRB和GCC2的一种新型融合基因。

A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31).

作者信息

Iriyama Noriyoshi, Takahashi Hiromichi, Naruse Hiromu, Miura Katsuhiro, Uchino Yoshihito, Nakagawa Masaru, Iizuka Kazuhide, Hamada Takashi, Hatta Yoshihiro, Nakayama Tomohiro, Takei Masami

机构信息

Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan.

Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.

出版信息

Mol Genet Genomic Med. 2019 Apr;7(4):e00591. doi: 10.1002/mgg3.591. Epub 2019 Jan 29.

DOI:10.1002/mgg3.591
PMID:30697976
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6465652/
Abstract

BACKGROUND

Platelet-derived growth factor receptor beta (PDGFRB) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia (CEL), B-acute lymphoblastic leukemia, myeloproliferative neoplasms, and juvenile myelomonocytic leukemia. Here, we report a case of CEL carrying a novel fusion gene involving PDGFRB and GRIP and coiled-coil domain containing 2 (GCC2).

PATIENT AND METHODS

A 54-year-old man presenting with a cough and dyspnea was diagnosed with acute eosinophilic pneumonia. Cytogenetic analysis of the bone marrow revealed the presence of t(2;5)(q37;q31). Fluorescence in situ hybridization analysis in the peripheral blood leukocytes revealed the presence of a split signal at PDGFRB gene. Imatinib treatment was effective, and disappearance of t(2;5)(q37;q31) in the bone marrow was confirmed after three months of imatinib therapy. Whole-genome sequencing was performed in peripheral blood leukocytes collected before imatinib therapy.

RESULTS

A novel fusion gene between exon 22 of GCC2 and exon 12 of PDGFRB was detected and the presence of GCC2-PDGFRB was confirmed by PCR.

CONCLUSION

This is the first case report demonstrating the GCC2 gene as a partner of PDGFRB in the pathogenesis of CEL.

摘要

背景

血小板衍生生长因子受体β（PDGFRB）重排在许多慢性嗜酸性粒细胞白血病（CEL）、B 急性淋巴细胞白血病、骨髓增殖性肿瘤和青少年骨髓单核细胞白血病患者中均有报道。在此，我们报告一例携带涉及 PDGFRB 和含 GRIP 及卷曲螺旋结构域 2（GCC2）的新型融合基因的 CEL 病例。

患者与方法

一名 54 岁出现咳嗽和呼吸困难的男性被诊断为急性嗜酸性粒细胞肺炎。对骨髓进行细胞遗传学分析显示存在 t(2;5)(q37;q31)。对外周血白细胞进行荧光原位杂交分析显示在 PDGFRB 基因处存在分裂信号。伊马替尼治疗有效，伊马替尼治疗三个月后骨髓中 t(2;5)(q37;q31)消失。在伊马替尼治疗前采集的外周血白细胞中进行了全基因组测序。

结果

检测到 GCC2 第 22 外显子与 PDGFRB 第 12 外显子之间的新型融合基因，并通过 PCR 证实了 GCC2-PDGFRB 的存在。

结论

这是首例证明 GCC2 基因在 CEL 发病机制中作为 PDGFRB 伙伴的病例报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/e4bd6ba2f0f0/MGG3-7-na-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/79f1695df411/MGG3-7-na-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/676e9f12ee08/MGG3-7-na-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/e4bd6ba2f0f0/MGG3-7-na-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/79f1695df411/MGG3-7-na-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/676e9f12ee08/MGG3-7-na-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2c6/6465652/e4bd6ba2f0f0/MGG3-7-na-g003.jpg

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