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学科主题: 临床医学
题名:
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients
作者: Masaki, Taro1,2; Wang, Yun1,3; DiGiovanna, John J.1; Khan, Sikandar G.1; Raffeld, Mark4; Beltaifa, Senda4; Hornyak, Thomas J.1,5; Darling, Thomas N.6; Lee, Chyi-Chia R.4; Kraemer, Kenneth H.1
关键词: xeroderma pigmentosum ; melanoma ; PTEN ; nevi ; mTOR ; DNA repair ; UV carcinogenesis
刊名: PIGMENT CELL & MELANOMA RESEARCH
发表日期: 2014-05-01
DOI: 10.1111/pcmr.12226
卷: 27, 期:3, 页:454-464
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Oncology ; Cell Biology ; Dermatology
研究领域[WOS]: Oncology ; Cell Biology ; Dermatology
关键词[WOS]: DNA-POLYMERASE-IOTA ; MALIGNANT-MELANOMA ; CUTANEOUS MELANOMA ; METASTATIC MELANOMA ; SKIN CARCINOGENESIS ; GENETIC ALTERATIONS ; DISTINCT SUBTYPES ; MELANOCYTIC NEVI ; MTOR PATHWAY ; BRAF
英文摘要:

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 mTOR 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.

语种: 英语
WOS记录号: WOS:000334170900016
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.e E 32
Appears in Collections:北京大学第一临床医学院_皮肤性病科_期刊论文

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作者单位: 1.Kobe Univ, Grad Sch Med, Div Dermatol, Kobe, Hyogo 657, Japan
2.Peking Univ First Hosp, Dept Dermatol, Beijing, Peoples R China
3.NCI, Dermatol Branch, Ctr Canc Res, Bethesda, MD 20892 USA
4.NCI, Pathol Lab, Ctr Canc Res, Bethesda, MD 20892 USA
5.Univ Maryland Med Ctr, Dept Dermatol, Baltimore, MD USA
6.Uniformed Serv Univ Hlth Sci, Dept Dermatol, Bethesda, MD 20814 USA

Recommended Citation:
Masaki, Taro,Wang, Yun,DiGiovanna, John J.,et al. High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients[J]. PIGMENT CELL & MELANOMA RESEARCH,2014,27(3):454-464.
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