Sinonasal squamous cell carcinoma and <i><scp>EGFR</scp></i> mutations: a molecular footprint of a benign lesion

Sasaki, Eiichi; Nishikawa, Daisuke; Hanai, Nobuhiro; Hasegawa, Yasuhisa; Yatabe, Yasushi

doi:10.1111/his.13732

Cited by 35 publications

(47 citation statements)

References 30 publications

(63 reference statements)

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“…Consistent with the first study by Udager et al , we recently confirmed the specific involvement of EGFR mutations in inverted sinonasal papillomas . In a previous study, we also examined KRAS mutational status, resulting in the detection of the mutation in 38% of SCPs.…”

Section: Introductionsupporting

confidence: 86%

Frequent KRAS and HRAS mutations in squamous cell papillomas of the head and neck

Sasaki

Masago

Hanai

et al. 2020

The Journal of Pathology CR

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Squamous cell papilloma (SCP) is a benign neoplasm of the head and neck. Human papillomavirus (HPV) has been reported to be a tumourigenic factor for SCP. However, not all SCPs are positive for HPV, suggesting that other possible mechanisms are involved in their development. In this study, we examined the mutational status of 51 SCPs using targeted panel sequencing in addition to HPV status using GP5+/GP6+ PCR. HPV DNA was detected in 6 (12%) SCPs, while KRAS and HRAS mutations were detected in 18 (35%) and 17 (33%) SCPs, respectively. Notably, KRAS mutations, HRAS mutations and HPV infection were mutually exclusive. The larynx and trachea (4/7, 57%) were more preferentially infected by HPV than the other sites (2/44, 5%, p = 0.0019) and HPV was associated with multifocal development (4/5, 80%). In contrast, KRAS and HRAS mutations in SCPs were evenly distributed across the anatomical sites and found only in single SCPs. In conclusion, this study demonstrated that HPV was not frequently involved in SCPs and that RAS mutations were more common alterations. In contrast to inverted sinonasal papillomas and oncocytic sinonasal papillomas, SCP may not be a precursor lesion of carcinoma, because these aetiological events in SCP are distinct from squamous cell carcinoma in the same sites.

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Section: Introductionsupporting

confidence: 86%

Frequent KRAS and HRAS mutations in squamous cell papillomas of the head and neck

Sasaki

Masago

Hanai

et al. 2020

The Journal of Pathology CR

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Section: Discussionmentioning

confidence: 99%

“…This may be attributable to insufficient sampling or decreased sequencing sensitivity, owing to an enhanced stromal compartment. Recently, in a Japanese cohort, Sasaki et al 6 found that only one of four SOP cases harboured KRAS mutations. Therefore, another possible explanation is that ethnic factors are related to KRAS mutation patterns, and it may also suggest that KRAS mutations are mutations with high frequency in SOP rather than indispensable mutations.…”

Section: Discussionmentioning

confidence: 99%

“…Currently, the aetiology of sinonasal papilloma remains unclear. Recently, several studies reported genetic mutation factors that may contribute to the pathogenesis of SIP . Both KRAS and EGFR encode kinases that belong to the mitogen‐activated protein kinase cascade, mediating cellular signalling involved in cell proliferation, apoptosis, and differentiation.…”

Section: Introductionmentioning

confidence: 99%

“…Recently, several studies reported genetic mutation factors that may contribute to the pathogenesis of SIP. [5][6][7] Both KRAS and EGFR encode kinases that belong to the mitogen-activated protein kinase cascade, mediating cellular signalling involved in cell proliferation, apoptosis, and differentiation. EGFR exon 18, 19 and 21 mutations account for 90% of EGFR driver mutations and predict response to treatment with EGFR tyrosine kinase inhibitors (TKIs), whereas exon 20 mutations constitute only 4% of EGFR mutations, and are associated with reduced sensitivity to EGFR TKIs.…”

Section: Introductionmentioning

confidence: 99%

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EGFR and KRAS mutations in Chinese patients with sinonasal inverted papilloma and oncocytic papilloma

Wang¹,

Li²,

Hu³

et al. 2019

Histopathology

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Aims Sinonasal inverted papilloma (SIP) and sinonasal oncocytic papilloma (SOP) are uncommon, benign epithelial neoplasms located in the sinonasal region, that have the potential for malignant transformation. A recent study reported that EGFR and KRAS mutations occurred in the majority of Western patients with SIP and SOP, respectively. The aims of this study were to investigate the prevalence of KRAS and EGFR mutations in Chinese SIP and SOP patients, and to study the association between molecular alterations and their clinical features. Methods and results We retrospectively collected 80 sinonasal papilloma specimens, including 44 cases with SIP, 33 cases with SOP, and three cases with mixed sinonasal papilloma, which harboured elements of both inverted and oncocytic types. Formalin‐fixed paraffin‐embedded tissues were used to extract genomic DNA, and EGFR and KRAS mutations were evaluated with direct Sanger sequencing. Thirty‐five (78%) SIP patients harboured EGFR mutations, and all mutations were exon 20 insertions, whereas no KRAS mutations were detected. In contrast, KRAS mutations were detected in 82% of SOP patients, but no EGFR mutations were detected. Among the three mixed‐type cases, two harboured both EGFR exon 20 insertions and KRAS mutations. Another case harboured a KRAS mutation, but no EGFR mutation was detected. Conclusion SIP and SOP are two clinical entities with different genetic mutational patterns of EGFR and KRAS. Mixed types with elements of both SIP and SOP may harbour both EGFR and KRAS mutations.

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International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors

Kuan

Wang

Adappa

et al. 2024

Int Forum Allergy Rhinol

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BackgroundSinonasal neoplasms, whether benign and malignant, pose a significant challenge to clinicians and represents a model area for multidisciplinary collaboration in order to optimize patient care. The International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors (ICSNT) aims to summarize the best available evidence and presents 48 thematic and histopathology‐based topics spanning the field.MethodsIn accordance with prior ICAR documents, ICSNT assigned each topic as an Evidence‐Based Review with Recommendations, Evidence‐Based Review, and Literature Review based on level of evidence. An international group of multidisciplinary author teams were assembled for the topic reviews using the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses format, and completed sections underwent a thorough and iterative consensus‐building process. The final document underwent rigorous synthesis and review prior to publication.ResultsThe ICNST document consists of 4 major sections: general principles, benign neoplasms and lesions, malignant neoplasms, and quality of life and surveillance. It covers 48 conceptual and/or histopathology‐based topics relevant to sinonasal neoplasms and masses. Topics with a high level of evidence provided specific recommendations, while other areas summarized the current state of evidence. A final section highlights research opportunities and future directions, contributing to advancing knowledge and community intervention.ConclusionAs an embodiment of the multidisciplinary and collaborative model of care in sinonasal neoplasms and masses, ICSNT was designed as a comprehensive, international, and multidisciplinary collaborative endeavor. Its primary objective is to summarize the existing evidence in the field of sinonasal neoplasms and masses.This article is protected by copyright. All rights reserved

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Sinonasal squamous cell carcinoma and EGFR mutations: a molecular footprint of a benign lesion

Abstract: Taken together with the specific involvement of EGFR mutations in ISP, a molecular benign lesion trail suggests that 26 (33%) of 80 SNSCCs developed in association with an ISP. SNSCCs with EGFR mutations may be biologically distinct among head and neck cancers.

Cited by 35 publications

References 30 publications

Frequent KRAS and HRAS mutations in squamous cell papillomas of the head and neck

Frequent KRAS and HRAS mutations in squamous cell papillomas of the head and neck

EGFR and KRAS mutations in Chinese patients with sinonasal inverted papilloma and oncocytic papilloma

International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors

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