Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis

Ono, Sawako; Hirose, Katsutoshi; Sukegawa, Shintaro; Obata, Kyoichi; Masui, Masanori; Hasegawa, Kazuaki; Fujimura, Ai; Shimada, Katsumitsu; Nakamura, Satoko; Teramoto, Akari; Hori, Yumiko; Morii, Eiichi; Motooka, Daisuke; Igawa, Takuro; Tanaka, Takehiro; Nagatsuka, Hitoshi; Toyosawa, Satoru; Yamamoto, Hidetaka

doi:https://doi.org/10.1186/s13000-024-01487-0

Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis

Ono, Sawako; Hirose, Katsutoshi; Sukegawa, Shintaro et al.

Diagnostic Pathology, 2024, 19(63)

Number of Access:1,896（2025-07-18 12:55 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/95369

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Title	Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis
Creator	CreatorName Ono, Sawako
	NRID 1000000824898 1000000824898 researchmap permalink -hirose -hirose Scopus Author ID 57190276392 57190276392 CreatorName Hirose, Katsutoshi
	NRID 1000020837661 1000020837661 CreatorName Sukegawa, Shintaro
	NRID 1000080845389 1000080845389 CreatorName Obata, Kyoichi
	NRID 1000080881143 1000080881143 CreatorName Masui, Masanori
	CreatorName Hasegawa, Kazuaki
	CreatorName Fujimura, Ai
	NRID 1000010782120 1000010782120 CreatorName Shimada, Katsumitsu
	CreatorName Nakamura, Satoko
	CreatorName Teramoto, Akari
	NRID 1000060528785 1000060528785 researchmap permalink yhhori yhhori CreatorName Hori, Yumiko
	NRID 1000010283772 1000010283772 ORCID 0000-0001-8490-3650 0000-0001-8490-3650 researchmap permalink read0046454 read0046454 Scopus Author ID 7003914326 7003914326 CreatorName Morii, Eiichi
	NRID 1000010636830 1000010636830 researchmap permalink daisukem daisukem Scopus Author ID 35315737900 35315737900 CreatorName Motooka, Daisuke
	NRID 1000050803186 1000050803186 CreatorName Igawa, Takuro
	NRID 1000070549857 1000070549857 CreatorName Tanaka, Takehiro
	NRID 1000070237535 1000070237535 CreatorName Nagatsuka, Hitoshi
	NRID 1000030243249 1000030243249 ORCID 0000-0002-0338-0251 0000-0002-0338-0251 researchmap permalink osteobone0729 osteobone0729 Scopus Author ID 7003411866 7003411866 CreatorName Toyosawa, Satoru
	NRID 1000030404073 1000030404073 CreatorName Yamamoto, Hidetaka
Subject	Squamous cell carcinoma
	Oral squamous cell carcinoma
	Dorsum of the tongue
	TP53
	p53
	Next-generation sequencing
Description	Ono Sawako, Hirose Katsutoshi, Sukegawa Shintaro, et al. Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis. Diagnostic Pathology 19, 63 (2024); https://doi.org/10.1186/s13000-024-01487-0.
Abstract	Background: Squamous cell carcinoma (SCC) of the dorsum of the tongue is extremely rare, and it clinically resembles various benign lesions. Somatic mutations in TP53 and some driver genes were implicated in the development of SCC; however, the somatic genetic characteristics of dorsal tongue SCC remain unknown. With a detailed analysis of gene mutations in dorsal tongue SCC, we aimed to better understand its biology. Methods: Four cases of SCC initially occurring on the tongue dorsum were evaluated for clinical and histological findings and immunohistochemical expression of p53 and p16. Gene mutations were analyzed using next-generation sequencing with a custom panel of driver genes.Results: We retrospectively investigated 557 cases of tongue SCC, and only four cases of SCC initially occurred on the tongue dorsum. The four patients (cases 1–4) were one woman and three men with a mean age of 53.75 years (range: 15–74 years). Histological analysis revealed well-differentiated SCC. Through molecular analysis, we identified pathogenic somatic mutations, namely, TP53 p.C176F (c.527G > T) in case 3 and TP53 p.R282W (c.844 C > T) in case 4. No pathogenic variants were identified in the PI3K/AKT or RAS/RAF pathways. The p53 immunohistochemical examination revealed a wild-type expression pattern in cases 1–3 and strong expression in case 4. The results of p16 immunostaining were negative in all cases. Conclusions: We described four previously unreported genetic characteristics of dorsal tongue SCC. Somatic TP53 mutations may contribute to the development of a subset of dorsal tongue SCC; however, more cases with genetic analysis need to be accumulated.
Publisher	BioMed Central Ltd
Source Title	Diagnostic Pathology
Volume (Issue)	19(63)
Date of Issued	2024-04-22
Handle URL	https://hdl.handle.net/11094/95369
eISSN	17461596
Relation.isIdenticalTo	DOI (Publisher Version) https://doi.org/10.1186/s13000-024-01487-0
Access Rights	open access
CopyRight	This article is licensed under a Creative Commons Attribution 4.0 International License.
oaire:version	Version of Record
Category	学術雑誌論文 Journal Article

Resource Type	journal article
Local Type	Journal Article
DCMI Type	Text
DCTERMS.bibliographicCitation	Diagnostic Pathology. 2024, 19(63)
DC.title	Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis
DC.creator	Ono, Sawako
	Hirose, Katsutoshi
	Sukegawa, Shintaro
	Obata, Kyoichi
	Masui, Masanori
	Hasegawa, Kazuaki
	Fujimura, Ai
	Shimada, Katsumitsu
	Nakamura, Satoko
	Teramoto, Akari
	Hori, Yumiko
	Morii, Eiichi
	Motooka, Daisuke
	Igawa, Takuro
	Tanaka, Takehiro
	Nagatsuka, Hitoshi
	Toyosawa, Satoru
	Yamamoto, Hidetaka
DC.publisher	BioMed Central Ltd
DC.type' scheme='DCTERMS.DCMIType	Text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2024-04-22
DC.identifier	https://doi.org/10.1186/s13000-024-01487-0
DC.subject	Squamous cell carcinoma
	Oral squamous cell carcinoma
	Dorsum of the tongue
	TP53
	p53
	Next-generation sequencing
DC.description	Ono Sawako, Hirose Katsutoshi, Sukegawa Shintaro, et al. Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis. Diagnostic Pathology 19, 63 (2024); https://doi.org/10.1186/s13000-024-01487-0.
DCTERMS.abstract	Background: Squamous cell carcinoma (SCC) of the dorsum of the tongue is extremely rare, and it clinically resembles various benign lesions. Somatic mutations in TP53 and some driver genes were implicated in the development of SCC; however, the somatic genetic characteristics of dorsal tongue SCC remain unknown. With a detailed analysis of gene mutations in dorsal tongue SCC, we aimed to better understand its biology. Methods: Four cases of SCC initially occurring on the tongue dorsum were evaluated for clinical and histological findings and immunohistochemical expression of p53 and p16. Gene mutations were analyzed using next-generation sequencing with a custom panel of driver genes.Results: We retrospectively investigated 557 cases of tongue SCC, and only four cases of SCC initially occurred on the tongue dorsum. The four patients (cases 1–4) were one woman and three men with a mean age of 53.75 years (range: 15–74 years). Histological analysis revealed well-differentiated SCC. Through molecular analysis, we identified pathogenic somatic mutations, namely, TP53 p.C176F (c.527G > T) in case 3 and TP53 p.R282W (c.844 C > T) in case 4. No pathogenic variants were identified in the PI3K/AKT or RAS/RAF pathways. The p53 immunohistochemical examination revealed a wild-type expression pattern in cases 1–3 and strong expression in case 4. The results of p16 immunostaining were negative in all cases. Conclusions: We described four previously unreported genetic characteristics of dorsal tongue SCC. Somatic TP53 mutations may contribute to the development of a subset of dorsal tongue SCC; however, more cases with genetic analysis need to be accumulated.
DC.rights	This article is licensed under a Creative Commons Attribution 4.0 International License.
DC.format	95369
citation_title	Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis
citation_author	Ono, Sawako
	Hirose, Katsutoshi
	Sukegawa, Shintaro
	Obata, Kyoichi
	Masui, Masanori
	Hasegawa, Kazuaki
	Fujimura, Ai
	Shimada, Katsumitsu
	Nakamura, Satoko
	Teramoto, Akari
	Hori, Yumiko
	Morii, Eiichi
	Motooka, Daisuke
	Igawa, Takuro
	Tanaka, Takehiro
	Nagatsuka, Hitoshi
	Toyosawa, Satoru
	Yamamoto, Hidetaka
citation_publisher	BioMed Central Ltd
citation_date	2024-04-22
citation_journal_title	Diagnostic Pathology
citation_volume	19
citation_issue	63
citation_doi	https://doi.org/10.1186/s13000-024-01487-0
citation_public_url	https://hdl.handle.net/11094/95369

Squamous cell carcinoma initially occurring on the tongue dorsum: a case series report with molecular analysis

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