The pathogenesis of childhood acute lymphoblastic leukemia (ALL) could be linked to PTPN11 mutation

02-14-2007

"PTPN11, the gene which encodes protein tyrosine phosphatase SHP-2, plays an important role in regulating intracellular signaling. Germline mutations in PTPN11 were first observed in Noonan syndrome, while somatic mutations were identified in hematological myeloid malignancies," scientists writing in the journal Leukemia Research reported.

"Recently, PTPN11 mutations have been reported in children with ALL," explained T. Yamamoto and colleagues, Nagoya University. "In the present study, we investigated the prevalence of mutations in PTPN11, RAS and FLT3 in samples from 95 Japanese children with ALL. We observed exon 3 and 8 missense mutations of PTPN11 in 6 children with B precursor ALL. One patient with Down syndrome and ALL had PTPN11 mutation.

"We also identified RAS mutations in 10 patients and FLT3 internal tandem duplication (FLT3/ITD) in 1 patient. None of the patients had simultaneous mutations in PTPN11 and RAS, while 1 patient had both PTPN11 and FLT3 mutations."

The researchers concluded, "These data suggest that PTPN11 mutation may play an important role for leukemogenesis in a proportion of children with ALL, particularly B precursor ALL."

Yamamoto and colleagues published their study in Leukemia Research (PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. Leuk Res, 2006;30(9):1085-1089).

Additional information can be obtained by contacting T. Yamamoto, Nagoya University, Graduate School Medical, Dept. of Pediatrics, Showa Ku, 65 Tsurumai Cho, Nagoya, Aichi 4668550, Japan.

This article was prepared by Genetics & Environmental Health Week editors from staff and other reports. Copyright 2007, Genetics & Environmental Health Week via NewsRx.com.