Mosaic Activating RAS Mutations in Nevus Sebaceus and Nevus Sebaceus Syndrome

Sun, Bryan K.; Saggini, Andrea; Sarin, Kavita Y.; Kim, Jinah; Benjamin, Latanya; LeBoit, Philip E.; Khavari, Paul A.

doi:10.1038/jid.2012.377

Cited by 57 publications

(62 citation statements)

References 14 publications

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“…4,5 In agreement with these findings, epidermal but not sebaceous nevi were observed on the scalp of our patient. 4,5 In agreement with these findings, epidermal but not sebaceous nevi were observed on the scalp of our patient.…”

supporting

confidence: 92%

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis

Honda

Umegaki‐Arao

Sasaki

et al. 2017

The Journal of Dermatology

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supporting

confidence: 92%

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis

Honda

Umegaki‐Arao

Sasaki

et al. 2017

The Journal of Dermatology

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“…Schimmelpenning-Feuerstein-Mims syndrome (SFMS) includes epibulbar dermoids, eyelid defects (coloboma, lipodermoid), central giant cell granuloma, coarctation of the aorta, and sebaceous nevi in common with Toriello et al, 1993. b Previously described by Toriello et al, 1999. OES [Ernst et al, 2007]. Sun et al [2013] also described a patient with SFMS and mosaicism for a mutation in HRAS, which was also a c.37G>C mutation. Gly13Arg) or KRAS (c.35G>A,p.Gly12Asp) [Groesser et al, 2012].…”

Section: Discussionmentioning

confidence: 97%

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

Peacock

Dykema

Toriello

et al. 2015

American J of Med Genetics Pt A

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Oculoectodermal syndrome (OES) is a rare disease characterized by a combination of congenital scalp lesions and ocular dermoids, with additional manifestations including non-ossifying fibromas and giant cell granulomas of the jaw occurring during the first decade of life. To identify the genetic etiology of OES, we conducted whole-genome sequencing of several tissues in an affected individual. Comparison of DNA from a non-ossifying fibroma to blood-derived DNA allowed identification of a somatic missense alteration in KRAS NM_033360.3(KRAS):c.38G>A, resulting in p.Gly13Asp. This alteration was also observed in the patient's other affected tissues including the skin and muscle. Targeted sequencing in a second, unrelated OES patient identified an NM_033360.3(KRAS):c.57G>C, p.Leu19Phe alteration. Allelic frequencies fell below 40% in all tissues examined in both patients, suggesting that OES is a mosaic RAS-related disorder, or RASopathy. The characteristic findings in OES, including scalp lesions, ocular dermoids, and benign tumors, are found in other mosaic and germline RASopathies. This discovery also broadens our understanding of the spectrum of phenotypes resulting from KRAS alterations. Future research into disease progression with regard to malignancy risk and investigation of RAS-targeted therapies in OES is warranted. KRAS sequencing is clinically available and may also now improve OES diagnostic criteria.

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“…4 There is significant overlap with keratinocytic epidermal nevi and the epidermal nevus syndrome, and it is likely that these syndromes represent different phenotypes arising from the same underlying mutations in HRAS and KRAS. 5 Previously it was held that the basaloid neoplasms in nevus sebaceus represented basal cell carcinoma.…”

Section: Discussionmentioning

confidence: 99%