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学科主题临床医学
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients
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
2014-05-01
DOI10.1111/pcmr.12226
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
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被引频次:20[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/51232
专题北京大学第一临床医学院_皮肤性病科
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
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GB/T 7714
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.
APA Masaki, Taro.,Wang, Yun.,DiGiovanna, John J..,Khan, Sikandar G..,Raffeld, Mark.,...&Kraemer, Kenneth H..(2014).High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.PIGMENT CELL & MELANOMA RESEARCH,27(3),454-464.
MLA Masaki, Taro,et al."High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients".PIGMENT CELL & MELANOMA RESEARCH 27.3(2014):454-464.
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