A Case of 8p11 Myeloproliferative Syndrome with BCR-FGFR1 Gene Fusion Presenting with Trilineage Acute Leukemia/Lymphoma, Successfully Treated by Cord Blood Transplantation
A Case of 8p11 Myeloproliferative Syndrome with BCR-FGFR1 Gene Fusion Presenting with Trilineage Acute Leukemia/Lymphoma, Successfully Treated by Cord Blood Transplantation
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DOI：
10.1159/000341289
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发表时间：
2012-11
影响因子：
2.4
通讯作者：
Satoshi Morishige;E. Oku;Yuka Takata;Yoshizo Kimura;F. Arakawa;R. Seki;R. Imamura;Koichi Osaki;Michitoshi Hashiguchi;K. Yakushiji;S. Mizuno;K. Yoshimoto;K. Nagafuji;K. Ohshima;T. Okamura
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作者：
Satoshi Morishige;E. Oku;Yuka Takata;Yoshizo Kimura;F. Arakawa;R. Seki;R. Imamura;Koichi Osaki;Michitoshi Hashiguchi;K. Yakushiji;S. Mizuno;K. Yoshimoto;K. Nagafuji;K. Ohshima;T. Okamura
8p11骨髓增生性综合征是一种罕见的与染色体易位相关的肿瘤，涉及位于8p11 - 12染色体上的成纤维细胞生长因子受体1 （FGFR1）基因。FGFR1编码一种跨膜受体酪氨酸激酶。由此产生的融合蛋白是驱动造血细胞增殖的活性酪氨酸激酶，其不受控制的生长可以表现为骨髓增殖性肿瘤。我们在此报告一例50岁男性骨髓和淋巴结细胞携带t(8;22)（p12;q11）染色体易位的病例。他表现为急性白血病和淋巴瘤，具有三期特征。通过逆转录聚合酶链式反应分析发现，在染色体22q11上的断点簇区（BCR）基因4外显子与染色体8p11-12上的FGFR1基因9外显子之间存在一种新的mRNA框架内融合，并通过DNA测序加以证实。由于患者对化疗难治，脐带血移植是在病情进展时进行的。它导致了一个成功的结果，其中细胞遗传学完全缓解已维持2年至今。
The 8p11 myeloproliferative syndrome is a rare neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) gene located at chromosome 8p11–12. FGFR1 encodes a transmembrane receptor tyrosine kinase. The resultant fusion proteins are constitutively active tyrosine kinases that drive the proliferation of hematopoietic cells, whose uncontrolled growth can present as a myeloproliferative neoplasm. We report here the case of a 50-year-old man harboring the t(8;22)(p12;q11) chromosomal translocation in cells from both bone marrow and lymph nodes. He presented with acute leukemia and lymphoma with trilineage features. A novel mRNA in-frame fusion between exon 4 of the breakpoint cluster region (BCR) gene at chromosome 22q11 and exon 9 of FGFR1 gene on chromosome 8p11–12 was identified by reverse transcription polymerase chain reaction analysis and was confirmed by DNA sequencing. Because the patient was refractory to chemotherapy, cord blood transplantation was performed in progressive disease. It resulted in a successful outcome in which cytogenetic complete remission has been maintained for 2 years till date.