Targeted next-generation sequencing of Japanese patients with sinonasal mucosal melanomas identifies frequent NRAS and CTNNB1 mutations

Tsushima, Nayuta; Kano, Satoshi; Hatanaka, Kanako C.; Suzuki, Takayoshi; Hamada, Seijiro; Idogawa, Hiroshi; Nakamaru, Yuji; Suzuki, Masanobu; Hatanaka, Yutaka; Homma, Akihiro

Targeted next-generation sequencing of Japanese patients with sinonasal mucosal melanomas identifies frequent NRAS and CTNNB1 mutations

Tsushima, Nayuta; Kano, Satoshi; Hatanaka, Kanako C. et al.

Auris nasus larynx, 2024, 51(2), 313-319

Permalink : https://hdl.handle.net/2115/94779

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論文情報

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アクセス権	open access
URI	https://hdl.handle.net/2115/94779
タイトル	Targeted next-generation sequencing of Japanese patients with sinonasal mucosal melanomas identifies frequent NRAS and CTNNB1 mutations
著者	Tsushima, Nayuta ; Kano, Satoshi ; Hatanaka, Kanako C. ; Suzuki, Takayoshi ; Hamada, Seijiro ; Idogawa, Hiroshi ; Nakamaru, Yuji ; Suzuki, Masanobu ; Hatanaka, Yutaka ; Homma, Akihiro
e-Rad_Researcher 50547643 著者名 Tsushima, Nayuta
e-Rad_Researcher 00374421 著者名 Kano, Satoshi
著者名 Hatanaka, Kanako C.
著者名 Suzuki, Takayoshi
著者名 Hamada, Seijiro
著者名 Idogawa, Hiroshi
e-Rad_Researcher 20344509 著者名 Nakamaru, Yuji
e-Rad_Researcher 70455658 著者名 Suzuki, Masanobu
e-Rad_Researcher 30589924 著者名 Hatanaka, Yutaka
e-Rad_Researcher 30312359 著者名 Homma, Akihiro
言語	英語
キーワード	Sinonasal mucosal melanoma
	Genetic mutations
	NRAS
	CTNNB1
	BRAF
	β-catenin
	Distant metastasis
発行日	2024-04-01
出版者	Elsevier
収録物名	Auris nasus larynx
巻(号)	51(2)
ページ	313-319
抄録	Objective Mucosal melanoma is a rare malignancy; however, the reported incidence rate of mucosal melanoma is higher in Asians than in Caucasians. Sinonasal mucosal melanoma (SNMM) is an aggressive malignancy with a poor prognosis due to distant metastasis. Systemic therapy with BRAF inhibitor and MEK inhibitor is one of the standards of care for cutaneous melanoma patients with BRAF V600 mutations. However, no molecular targeted therapy for patients with mucosal melanoma has been established. Relatively few studies have described the genetic mutations associated with mucosal melanoma because of its low frequency. Furthermore, to the best of our knowledge, the genetic mutations among Japanese patients have not been reported. Therefore, in the current study, we evaluated the genetic and clinicopathological characteristics of patients with SNMM. Methods A total of 18 tissue samples obtained from patients with SNMM were analyzed for genetic mutations based on targeted next-generation sequencing to investigate the driver of tumorigenesis and/or candidate genes for predicting clinical outcomes in SNMM. We also performed immunohistochemistry for patients identified with CTNNB1 mutations. Results Eight of the 18 (44 %) patients had genetic mutations. The most frequent mutation was NRAS (6/18, 33 %), followed by CTNNB1 (2/18, 11 %) and BRAF (1/18, 5.6 %). One patient had both NRAS and CTNNB1 mutations. Clinical outcomes did not differ significantly between those with and without genetic mutations. NRAS mutations were associated with relatively higher T classification and worse survival rates, although the differences were not significant. The nuclear translocation of β-catenin was detected in both tumors with CTNNB1 mutations. The amino acid change in the BRAF mutation was K601R in exon 15. In the current study, no BRAF V600 mutations were detected. Conclusion Genetic mutations were not significantly associated with clinical outcomes. However, NRAS mutations may be a prognostic predictor and CTNNB1 mutation may be a treatment effector for immune check inhibitors. A larger prospective study is required to clarify the clinical importance of genetic mutations in patients with SNMM.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
権利情報	© 2024. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
PISSN	0385-8146
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.anl.2023.10.002