Multiple Granular Cell Tumors in a Child with Noonan Syndrome

Conclusion

Multiple GCTs were recently reported in several patients with Noonan syndrome.

They are thought to be of Schwann cell origin and as such resemble cutaneous neurofibromas observed in neurofibromatosis type 1, another syndrome caused by mutations in a gene coding for a component of the RAS-MAPkinase pathway.

We hypothesize that the increased signaling through the RAS-MAPkinase pathway as a result of mutations in genes coding for key components of the pathway predisposes children with Noonan syndrome to multiple GCTs.

Although rare, GCTs of the skin and mucous membranes could be added to the spectrum of features associated with Noonan syndrome.

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