伴有t(8;9)(p12;q33)的骨髓增殖性疾病：一例报告并文献复习

Myeloproliferative disorders with t(8;9)(p12;q33): a case report and review of the literature.

作者信息

Hu Shaoyan, He Yaxiang, Zhu Xueming, Li Jie, He Hailong

机构信息

Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou City, China.

出版信息

Pediatr Hematol Oncol. 2011 Mar;28(2):140-6. doi: 10.3109/08880018.2010.528170. Epub 2011 Jan 8.

DOI:10.3109/08880018.2010.528170

PMID:21214407

Abstract

The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 tyrosine kinase gene on chromosome 8p11-12. The most frequent partner genes are in decreasing order of frequency: ZNF198 (or ZMYM2, zinc finger MYM type 2), CEP110 (centrosomal protein 110 kDa), FOP (or FGFR1OP, FGFR1 [fibroblast growth factor receptor 1] oncogene partner), and BCR (breakpoint cluster region) located on 13q12, 9q33, 6q27, and 22q11, respectively. Here the authors report a new case of translocation (8;9)(p12;q33) without lymphoma prior to the progression into acute leukemia. Currently, only patients underwent bone marrow transplantation stand a chance of long-term survival. In the future, FGFR1 inhibitor might be the specific and effective therapeutic target for EMS.

摘要

8p11骨髓增殖综合征（EMS）是一种侵袭性肿瘤，与涉及8号染色体p11-12上成纤维细胞生长因子受体1酪氨酸激酶基因的染色体易位有关。最常见的伙伴基因按频率递减顺序排列为：ZNF198（或ZMYM2，锌指MYM型2）、CEP110（中心体蛋白110 kDa）、FOP（或FGFR1OP，FGFR1 [成纤维细胞生长因子受体1] 癌基因伙伴）以及分别位于13q12、9q33、6q27和22q11的BCR（断裂点簇集区）。本文作者报告了一例新的（8；9）（p12；q33）易位病例，该病例在进展为急性白血病之前无淋巴瘤病史。目前，只有接受骨髓移植的患者才有长期存活的机会。未来，FGFR1抑制剂可能是EMS的特异性有效治疗靶点。