Primary combined small cell carcinoma and squamous cell carcinoma of the oropharynx with special reference to EGFR status of small cell carcinoma component: Case report and review of the literature

Nakano, Tomoko; Motoshita, Junichi; Tanaka, Risa; Okabe, Midori; Tamae, Akihiro; Shiratsuchi, Hideki; Yasumatsu, Ryuji; Nakashima, Torahiko; Nakagawa, Takashi

doi:10.1016/j.anl.2016.07.011

Cited by 10 publications

(13 citation statements)

References 14 publications

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“…As shown in the present study, HPV-related OPSmCC and SqCC arise in an identical organ under the influence of a common carcinogenic pathway (i.e., infection of high-risk HPV) (Bishop and Westra 2011;Nakano et al 2017). However, these two types of cancer demonstrate opposing phenotypes: SmCC is recognized as one of the most aggressive forms of cancer (Bishop and Westra 2011), whereas SqCC is recognized as a curable cancer (Ang et al 2010).…”

Section: Discussionsupporting

confidence: 58%

Genetic and transcriptomic analyses in a rare case of human papillomavirus–related oropharyngeal squamous-cell carcinoma combined with small-cell carcinoma

Sato

Nishiyama

Taguchi

et al. 2021

Cold Spring Harb Mol Case Stud

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Human papillomavirus (HPV)-related oropharyngeal small cell carcinoma (OPSmCC) is a rare malignancy with aggressive behavior, whereas HPV-related oropharyngeal squamous cell carcinoma (OPSqCC) displays a favorable prognosis. Notably, these two malignancies occasionally arise in an identical tumor. In this case study, we explored the molecular characteristics that distinguishes these two carcinomas employing a rare case of HPV-related oropharyngeal carcinoma (OPC) with the combined histology of SmCC and SqCC. Immunohistochemical analysis and HPV-RNA in situ hybridization (ISH) suggested that both SmCC and SqCC were HPV-related malignancies. Targeted exome sequencing revealed that SmCC and SqCC had no significant difference in mutations of known driver genes. In contrast, RNA sequencing followed by bioinformatic analyses suggested that aberrant transcriptional programs may be responsible for the neuroendocrine differentiation of HPV-related OPC. Compared to SqCC, genes upregulated in SmCC were functionally enriched in inflammatory and immune responses (e.g., arachidonic acid metabolism). We then developed a SmCC-like gene module (top 10 upregulated genes) and found that OPC patients with high module activity showed poor prognosis in The Cancer Genome Atlas (TCGA) and GSE65858 cohort. Gene set enrichment analysis of the SmCC-like gene module suggested its link to MYC proto-oncogene in the TCGA dataset. Taken together, these findings suggest that the SmCC-like gene module may contribute to acquisition of aggressive phenotypes and tumor heterogeneity of HPV-related OPC. The present case study is the first report of genetic and transcriptomic aberrations in HPV-related OPSmCC combined with SqCC.

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Section: Discussionsupporting

confidence: 58%

Genetic and transcriptomic analyses in a rare case of human papillomavirus–related oropharyngeal squamous-cell carcinoma combined with small-cell carcinoma

Sato

Nishiyama

Taguchi

et al. 2021

Cold Spring Harb Mol Case Stud

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“…Unfortunately this study was inconclusive, but immunohistochemical analyses of the sample study were consistent with the diagnosis of small-cell neuroendocrine carcinoma. The expression of p63 also suggested the possibility of the presence of a squamous component in the tumor; in fact, there are reported few cases of primary laryngeal combined squamous cell carcinoma and small-cell carcinoma [ 6 ], but in our case p40 and CK 5/6 negativity did not reflect this extremely rare condition.…”

Section: Discussionmentioning

confidence: 49%

An unusual neck tumor in a young pregnant woman: challenge diagnosis and response to treatment

Arango

López

Arrazubi

et al. 2017

Oxford Medical Case Reports

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We report the case of a 19-year-old woman 33 weeks pregnant who presented a painful mass of progressive growth in the neck, having also dysphonia and dyspnea. Physical examination revealed a primary laryngeal tumor. A neuroendocrine small-cell carcinoma was diagnosed after histopathology, immunohistochemistry and genetic studies. Chemo-radiotherapy with a cisplatin-etoposide schedule was administered. Despite obtaining a complete response, the patient relapsed and finally survived 35 months with successive cisplatin-based treatments. Small-cell neuroendocrine carcinoma of the larynx is an uncommon entity, differential diagnosis can be problematic and treatment is challenging.

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“…14 In 2 cases, HPV testing was not performed. 18,21 The oropharyngeal carcinoma presented in this article showed immunohistochemical expression of both neuroendocrine and squamous markers, though no 2 distinct components were evident by morphology. It showed strong and diffuse positivity for synaptophysin and focal staining with chromogranin and CD56.…”

mentioning

confidence: 75%

“…Interestingly, 30% (9 of 30 cases) of OPSmCC occurred in association with squamous cell carcinomas. 5,6,14,18,21 In 7 cases, both the small cell and squamous components were present next to each other. In the other 2 cases, the small cell component occurred at the site where a previous squamous cell carcinoma was present.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Human Papillomavirus–Associated Oropharyngeal High-Grade Neuroendocrine Carcinoma in an Adolescent: Case Report and Review of Literature

Sinno

Assaad

Shabb

2019

Clin Med Insights Pediatr

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Oropharyngeal small cell carcinomas (OPSmCC) are rare with only few case reports and case series published in the literature. More recently, an association of these tumors with human papillomavirus (HPV) infection has been detected. However, unlike oropharyngeal squamous cell carcinomas which have a better outcome when associated with HPV, OPSmCC exhibit an aggressive behavior. In this article, we report a case of tonsillar carcinoma arising in a 14-year-old boy that was associated with HPV infection. The tumor exhibited morphologic features of small cell carcinoma with no overt squamous differentiation. Yet, by immunohistochemistry, it showed diffuse and strong co-expression of both squamous and neuroendocrine markers. In addition, we present the clinicopathologic features of all the cases of OPSmCC reported in the literature for which p16 and/or HPV testing have been done.

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Primary combined small cell carcinoma and squamous cell carcinoma of the oropharynx with special reference to EGFR status of small cell carcinoma component: Case report and review of the literature

Cited by 10 publications

References 14 publications

Genetic and transcriptomic analyses in a rare case of human papillomavirus–related oropharyngeal squamous-cell carcinoma combined with small-cell carcinoma

Genetic and transcriptomic analyses in a rare case of human papillomavirus–related oropharyngeal squamous-cell carcinoma combined with small-cell carcinoma

An unusual neck tumor in a young pregnant woman: challenge diagnosis and response to treatment

Human Papillomavirus–Associated Oropharyngeal High-Grade Neuroendocrine Carcinoma in an Adolescent: Case Report and Review of Literature

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