Hodgkin’s lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations

被引：0
作者：
Fu-Sung Lo
Tseng-Tong Kuo
Chao-Jan Wang
Min-Tzu Kuo
Ming-Chung Kuo
机构：
[1] Chung Gung University College of Medicine,Department of Pediatrics, Chang Gung Memorial Hospital
[2] Chung Gung University College of Medicine,Department of Pathology, Chang Gung Memorial Hospital
[3] Chung Gung University College of Medicine,Department of Radiology, Chang Gung Memorial Hospital
[4] Chung Gung University College of Medicine,Division of Hematology/Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital
来源：
International Journal of Hematology | 2008年 / 88卷
关键词：
Hodgkin lymphoma; Noonan syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
We describe the previously unreported condition of Hodgkin’s lymphoma in a patient with Noonan syndrome caused by germ-line mutations (1507G > C, Gly503Arg) in exon 13 of the PTPN11 gene. PTPN11, encoding SHP-2, is the first identified gene for Noonan syndrome and also the first identified proto-oncogene that encodes a tyrosine phosphatase. This somatic mutation has ever been reported in juvenile myelomonocytic leukemia (JMML). Furthermore, the functional analysis of this mutant SHP-2 has shown it to have enhanced phosphatase activity. Mutational analysis of PTPN11 gene in cancer cells and understanding how SHP-2 contributes to oncogenesis will provide new insight into the pathogenesis of Hodgkin’s lymphoma.
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页码：287 / 290
页数：3
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