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

页码：287 / 290

页数：4

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