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PTPN11

From www.haematologyetc.co.uk


Gene affected:
PTPN11 - Tyrosine-protein phosphatase non-receptor type 11,


Clinical significance
The most frequent somatic mutation associated with Noonan syndrome, germline mutations of PTPN11 are frequent in a range of childhood leukaemias, but are relatively infrequent in adults.





Function of gene

A widely expressed protein tyrosine phosphatase that regulates cell signalling playing a key role in the proliferation and survival of hematopoietic cells. Germ line PTPN11 mutations are the most frequent cause of Noonan syndrome with recognised predisposition to leukaemia (Link: Noonan Syndrome)


NGS panel gene coverage

The panel covers exons 3 and 13


Occurrence:

Childhood myeloid disorders (frequency varies)
juvenile myelomonocytic leukemia, myelodysplastic syndrome, childhood AML and acute lymphoblastic leukemia
childhood AML (4-6%)
Possibly mutually exclusive with FLT3/ITD but may correlate with mutations of NPM1
Adult myeloid disorders
infrequent

Somatic mutations: Found in childhood bone marrow disorders including: Childhood AML 4-6%. Adult myeloid disorders: uncommon in adult MDS and AML




Links


GeneWiki link:
Gene Wiki entry for PTPN11
References
1. Relationship to NPM1 and FLT3
2. Infrequent in adult myeloid disorders