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

被引：5
作者：
Lo, Fu-Sung [2 ]
Kuo, Tseng-Tong [2 ,3 ]
Wang, Chao-Jan [4 ]
Kuo, Min-Tzu
Kuo, Ming-Chung [1 ]
机构：
[1] Chung Gung Univ Coll Med, Chang Gung Mem Hosp, Dept Internal Med, Div Hematol Oncol, Tao Yuan 333, Taiwan
[2] Chung Gung Univ Coll Med, Chang Gung Mem Hosp, Dept Pediat, Tao Yuan 333, Taiwan
[3] Chung Gung Univ Coll Med, Chang Gung Mem Hosp, Dept Pathol, Tao Yuan 333, Taiwan
[4] Chung Gung Univ Coll Med, Chang Gung Mem Hosp, Dept Radiol, Tao Yuan 333, Taiwan
来源：
INTERNATIONAL JOURNAL OF HEMATOLOGY | 2008年 / 88卷 / 03期
关键词：
Hodgkin lymphoma; Noonan syndrome; PTPN11;
D O I：
10.1007/s12185-008-0157-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
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.
引用
收藏
页码：287 / 290
页数：4
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