In:
Pigment Cell & Melanoma Research, Wiley, Vol. 27, No. 3 ( 2014-05), p. 454-464
Abstract:
We examined nevi and melanomas in 10 xeroderma pigmentosum ( XP ) patients with defective DNA repair. The lesions had a lentiginous appearance with markedly increased numbers of melanocytes. Using laser capture microdissection, we performed DNA sequencing of 18 benign and atypical nevi and 75 melanomas (melanoma in situ and invasive melanomas). The nevi had a similar high frequency of PTEN mutations as melanomas [61% (11/18) versus 53% (39/73)]. Both had a very high proportion of UV ‐type mutations (occurring at adjacent pyrimidines) [91% (10/11) versus 92% (36/39)]. In contrast to melanomas in the general population, the frequency of BRAF mutations (11%, 7/61), NRAS mutations (21%, 13/62), and KIT mutations (21%, 6/28) in XP melanomas was lower than for PTEN . Phospho‐S6 immunostaining indicated activation of the m TOR pathway in the atypical nevi and melanomas. Thus, the clinical and histological appearances and the molecular pathology of these UV ‐related XP nevi and melanomas were different from nevi and melanomas in the general population.
Type of Medium:
Online Resource
ISSN:
1755-1471
,
1755-148X
DOI:
10.1111/pcmr.2014.27.issue-3
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
2425880-5
Permalink