Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.
Br J Dermatol
; 159(4): 968-73, 2008 Sep.
Article
in En
| MEDLINE
| ID: mdl-18717677
ABSTRACT
We report the case of an 83-year-old French woman with multiple melanomas showing a severe DNA repair deficiency, corrected after transfection by XPC cDNA. Two biallelic mutations in the XPC gene are reported an inactivating frameshift mutation in exon 15 (c.2544delG, p.W848X) and a missense mutation in exon 11 (c.2108 C>T, P703L). We demonstrate that these new mutations are involved in the DNA repair deficiency and confirm the diagnosis of xeroderma pigmentosum from complementation group C (XP-C). We speculate that the coexistence of a MC1R variant may be involved in the phenotype of multiple melanomas and that the unusual long-term survival may be related to a lower ultraviolet radiation exposure and to a regular clinical follow-up. This patient appears to be the first French Caucasian XP-C case and one of the oldest living patients with XP reported worldwide.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Neoplasms
/
Xeroderma Pigmentosum
/
Frameshift Mutation
/
Mutation, Missense
/
DNA-Binding Proteins
/
DNA Repair
/
Melanoma
/
Neoplasms, Multiple Primary
Limits:
Aged80
/
Female
/
Humans
Language:
En
Journal:
Br J Dermatol
Year:
2008
Type:
Article
Affiliation country:
France