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Pigment cell & melanoma research

Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma.


PMID 25043693

Abstract

Activating mutations in the GTPase RAC1 are a recurrent event in cutaneous melanoma. We investigated the clinical and pathological associations of RAC1(P29S) in a cohort of 814 primary cutaneous melanomas with known BRAF and NRAS mutation status. The RAC1(P29S) mutation had a prevalence of 3.3% and was associated with increased thickness (OR=1.6 Pxa0=xa00.001), increased mitotic rate (OR=1.3 Pxa0=xa00.03), ulceration (OR=2.4 Pxa0=xa00.04), nodular subtype (OR=3.4 Pxa0=xa00.004), and nodal disease at diagnosis (OR=3.3 Pxa0=xa00.006). BRAF mutant tumors were also associated with nodal metastases (OR=1.9 Pxa0=xa00.004), despite being thinner at diagnosis than BRAF WT (median 1.2xa0mm versus 1.6xa0mm, Pxa0