https://scholars.lib.ntu.edu.tw/handle/123456789/473565
標題: | TERT promoter mutation is uncommon in acral lentiginous melanoma | 作者: | JAU-YU LIAU JIA-HUEI TSAI YUNG-MING JENG CHIA-YU CHU KUAN-TING KUO Liang C.-W. |
公開日期: | 2014 | 出版社: | Blackwell Publishing Ltd | 卷: | 41 | 期: | 6 | 起(迄)頁: | 504-508 | 來源出版物: | Journal of Cutaneous Pathology | 摘要: | Background Melanoma is a heterogeneous group of diseases with distinct sets of genetic changes. Recurrent and mutually exclusive C>T or CC>TT transition mutations were identified in the promoter region of the reverse transcriptase catalytic subunit of the telomerase gene (TERT) in melanoma recently, and it was suggested that they enhanced the expression of TERT gene and played important roles in the melanoma pathogenesis. These mono or di-nucleotide transitions were ultraviolet (UV)-signature mutations. Methods In this study, polymerase chain reaction and direct sequencing of TERT promoter using formalin-fixed and paraffin-embedded tissue was performed to investigate whether these UV-signature mutations were also present in acral lentiginous melanoma. Results TERT promoter mutation was identified in only 2 of the 32 cases (6%) of acral lentiginous melanomas while it was identified in 3 of the 9 cases (33%) of non-acral cutaneous melanomas. The difference was statistically significant (p = 0.028). Conclusions The rarity of TERT promoter mutation in the acral lentiginous melanoma was consistent with the supposed role of UV light in the melanoma pathogenesis and also corroborated the view that acral lentiginous melanomas have a different pathogenesis with the melanomas from sun-exposed sites. ? 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84901621673&doi=10.1111%2fcup.12323&partnerID=40&md5=9ceb75e71cf827ee37384ea197b4577d https://scholars.lib.ntu.edu.tw/handle/123456789/473565 |
ISSN: | 0303-6987 | DOI: | 10.1111/cup.12323 | SDG/關鍵字: | telomerase; TERT protein, human; adult; aged; female; genetics; human; male; melanoma; middle aged; mutation; pathology; promoter region; skin tumor; very elderly; Adult; Aged; Aged, 80 and over; Female; Humans; Male; Melanoma; Middle Aged; Mutation; Promoter Regions, Genetic; Skin Neoplasms; Telomerase |
顯示於: | 病理學科所 |
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