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. 2013 Mar;133(3):827-830.
doi: 10.1038/jid.2012.379. Epub 2012 Oct 25.

Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus

Jonathan L Levinsohn  1 , Li C Tian  1 , Lynn M Boyden  2 , Jennifer M McNiff  1 , Deepak Narayan  3 , Erin S Loring  2 , Duri Yun  4 , Jeffrey L Sugarman  5 , John D Overton  6 , Shrikant M Mane  6 , Richard P Lifton  7 , Amy S Paller  4 , Annette M Wagner  4 , Richard J Antaya  8 , Keith A Choate  9
Affiliations

Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus

Jonathan L Levinsohn et al. J Invest Dermatol. 2013 Mar.
No abstract available

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Conflict of interest statement

Conflict of Interest

The authors report no conflict of interest.

Figures

Figure 1
Figure 1. Clinical and microscopic features of nevus sebaceus
(a, b) Solitary, well-demarcated lesions on the scalp of two individuals show alopecia and a yellow-orange waxy appearance. (c) On histological examination, there is epidermal acanthosis, papillomatosis, and hyperkeratosis with dramatic increase in the number of sebaceous lobules and abortive hair follicles, scale = 288 μm, which is more evident at higher magnification (d), scale = 85 μm. (e–g) Up to 20% of nevus sebaceus lesions develop tumors including syringocystadenomas, trichoblastomas, trichilemmomas and tubular apocrine adenomas. (e) Nevus sebaceus (NS) with syringocystadenoma papilliferum (SCP) composed of villous structures lined by a columnar epithelium with stromal plasma cells, scale = 570 μm, most evident at higher magnification, (f), scale = 92 μm. (g) A trichoblastoma arising within a nevus sebaceus shows a well-circumscribed nodule of basaloid cells with a dense fibrocytic stroma, scale = 92 μm.
Figure 2
Figure 2. Exome sequencing reveals somatic HRAS and KRAS mutations in nevus sebaceus tissue
(a) HRAS and KRAS mutation annotation, including genomic position, nucleotide change, protein consequence, and number of reference and non-reference reads obtained from paired sequencing of tissue and blood in 5 independent, unrelated nevus sebaceus cases. Significance of the mutant allele frequency difference between tissue and blood DNA was calculated with a one-tailed Fisher’s exact test. When corrected for multiple testing, 2.4×10−6 is the threshold for genome wide significance. In each case, HRAS and KRAS mutations showed the lowest P-value. (b) Alignment of the N-termini of HRAS and KRAS reveals identical residues through position 94, with an overall 95% identity and 99% similarity. The first 50 amino acids are shown for the wild-type and each mutant protein, with mutant residues indicated in red.
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References

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