Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.
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.
Lo
Fu-Sung
FS
Department of Pediatrics, Chang Gung Memorial Hospital, Chung Gung University College of Medicine, Taoyuan, Taiwan.
Kuo
Tseng-Tong
TT
Department of Pathology, Chang Gung Memorial Hospital, Chung Gung University College of Medicine, Taoyuan, Taiwan.
Wang
Chao-Jan
CJ
Department of Radiology, Chang Gung Memorial Hospital, Chung Gung University College of Medicine, Taoyuan, Taiwan.
Kuo
Min-Tzu
MT
Department of Pediatrics, Chang Gung Memorial Hospital, Chung Gung University College of Medicine, Taoyuan, Taiwan.
Kuo
Ming-Chung
MC
Division of Hematology/Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital, Chung Gung University College of Medicine, 5, Fu-Shing Street, Kweishan, Taoyuan, 333, Taiwan. k12069@adm.cgmh.org.tw.