Uncommon Human Telomerase Reverse Transcriptase Promoter Mutations Are Associated With Poor Survival in Ovarian Clear Cell Carcinoma

Abstract Objectives The present study assessed whether human telomerase reverse transcriptase (TERT) promoter mutations mediate the increased mortality risk observed in patients with ovarian clear cell carcinoma (CCC) and characterized the pathologic features of TERT promoter mutation-associated ova...

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Published inAmerican journal of clinical pathology Vol. 149; no. 4; pp. 352 - 361
Main Authors Nishikimi, Kyoko, Nakagawa, Kiyoshi, Tate, Shinichi, Matsuoka, Ayumu, Iwamoto, Masami, Kiyokawa, Takako, Shozu, Makio
Format Journal Article
LanguageEnglish
Published US Oxford University Press 07.03.2018
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Summary:Abstract Objectives The present study assessed whether human telomerase reverse transcriptase (TERT) promoter mutations mediate the increased mortality risk observed in patients with ovarian clear cell carcinoma (CCC) and characterized the pathologic features of TERT promoter mutation-associated ovarian CCC. Methods The TERT promoter region in genomic DNA extracted from paraffin-embedded ovarian CCC specimens (n = 93) was bidirectionally sequenced. Results A total of 24 TERT promoter mutations were identified among the analyzed CCC cases, of which 11 were known “hotspot” mutations whose frequency was increased in CCC cases with compared to without coexistent adenofibroma (P < .05). In contrast, the 14 (including three novel) identified uncommon site mutations were shown to be associated with a poor progression-free survival rate (P < .01). Conclusions The identified uncommon TERT promoter mutations exacerbate the poor prognosis characteristic of ovarian CCC cases, and the hotspot mutations appear to be a molecular feature of the adenofibroma-associated form of the disease.
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ISSN:0002-9173
1943-7722
DOI:10.1093/ajcp/aqx166