Somatic mutations in GNAQ in amelanotic/hypomelanotic blue nevi

Genetics of melanocytic nevi

“…() reported BRAF exon 15 mutations in 3 (12%) of 25 blue nevi and did not identify any NRAS mutations, while Emley et al. () reported zero BRAF and 1 (5.3%) NRAS mutations in 19 common and cellular blue nevi, but found KRAS mutations among 16.7% (3/18) of these blue nevi.…”

“…Genetic analyses of rare blue nevi variants and blue nevi‐related dermal melanocytoses (i.e. Nevus of Ito and Nevus of Ota) are sparse, with small sample sizes, but the findings tend to agree that GNAQ and GNA11 mutations are much less prevalent in these lesions than in common and cellular blue nevi (Bender et al., ; Emley et al., ; Held et al., ; Van Raamsdonk et al., , ). Further genetic studies and functional validation investigations are needed to better elucidate how GNAQ and GNA11 mutations influence the biology and pathophysiology of blue nevi and related dermal melanocytic lesions.…”

“…Most acquired melanocytic nevi harbor somatic mutations in genes involved in the MAPK signaling pathway, particularly BRAF and NRAS (Davies et al, 2002;Pollock et al, 2003;Van Raamsdonk et al, 2009). Mutations in these genes are uncommonly identified in blue nevi; Saldanha et al (2004) reported BRAF exon 15 mutations in 3 (12%) of 25 blue nevi and did not identify any NRAS mutations, while Emley et al (2011) reported zero BRAF and 1 (5.3%) NRAS mutations in 19 common and cellular blue nevi, but found KRAS mutations among 16.7% (3/18) of these blue nevi.…”

Generalized congenital epithelioid blue nevi (pigmented epithelioid melanocytomas) in an infant: Report of case and review of the literature

“…Molecular abnormalities can also help distinguish EBN from common blue nevi and other entities. Several studies have shown that a large proportion of blue nevi, up to 87%, have a mutation in GNAQ , a gene encoding the α‐subunit of heterotrimeric q‐class G protein, or less commonly its paralogue GNA11 . Most GNAQ mutations occur at codon 209, which is essential for GTP hydrolysis, and lead to constitutional activation of the G protein .…”

“…Several studies have shown that a large proportion of blue nevi, up to 87%, have a mutation in GNAQ, a gene encoding the α-subunit of heterotrimeric q-class G protein, or less commonly its paralogue GNA11. [24][25][26][27][30][31][32] Most GNAQ mutations occur at codon 209, which is essential for GTP hydrolysis, and lead to constitutional activation of the G protein. 26,32 Mutations in genes in the same signaling pathway as GNAQ and GNA11 such as CYSLTR2…”