PTPN11

Definition: The PTPN11 gene encodes the nonreceptor protein tyrosine phosphatase SHP2, which contains 2 Src homology-2 (SH2) domains.

Pathology

Activating mutations of the PTPN11 gene encoding the SHP2 tyrosine phosphatase is the most common genetic abnormality in juvenile myelomonocytic leukemia and is sporadically observed in myelodysplasia (MDS) and acute myeloid leukemia (AML).

 germline gain-of-function mutations in

• Noonan syndrome (MIM.163950)
• LEOPARD syndrome

 somatic mutations in

• rhabdomyosarcomas (16518851)
• juvenile myelomonocytic leukemia (JMML) (most common genetic abnormality 50%) (16518851)
• myelodysplasia (MDS)
• acute myeloid leukemia (AML)

See also

 PTPNs

References

 Mutesa L, Pierquin G, Janin N, Segers K, Thomée C, Provenzi M, Bours V. Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors. Cancer Genet Cytogenet. 2008 Apr 1;182(1):40-2. PMID: 18328949

 Christiansen DH, Desta F, Andersen MK, Pedersen-Bjergaard J. Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. Genes Chromosomes Cancer. 2007 Jun;46(6):517-21. PMID: 17330262

 Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, Hongo T, Taki T, Ogasawara M, Shimada A, Hayashi Y. Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. Genes Chromosomes Cancer. 2006 Jun;45(6):583-91. PMID: 16518851