Wednesday, 9 October 2013

Characterizing mutations identified in primary cutaneous melanomas

V Mar Profile 125Victoria Mar (SPHPM Postgraduate student) is lead author on an article just published in Clinical Cancer Research, titled ‘BRAF/NRAS Wild-Type Melanomas Have a High Mutation Load Correlating with Histologic and Molecular Signatures of UV Damage’ (Vol.19; Iss.7; pp4589-4598).

The mutation load in melanoma is generally high compared with other tumor types due to extensive UV damage.

DNA was extracted from 34 fresh-frozen primary cutaneous melanomas and matched peripheral blood. Tumor histopathology was reviewed by two dermatopathologists. Exome sequencing was conducted and mutation rates were correlated with age, sex, tumor site, and histopathologic variables.

Melanomas arising in severely sun damaged skin have higher mutation loads and contain a spectrum of molecular subtypes compared with BRAF- and NRAS-mutant tumors.

Multigene screening approaches and combination therapies may be required for management of these patients.

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