Verrucous carcinoma of the esophagus—remains a diagnostic enigma

Al-Shoha, Mohammad; Nadeem, Urooba; George, Nayana; Raghavapuram, Saikiran; Mallinger, Wesley; Tharian, Benjamin

doi:10.1038/s41395-018-0065-0

Cited by 7 publications

(7 citation statements)

References 5 publications

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“…We present a patient with VCE who needed more than 15 months to confirm the diagnosis. This is in accordance with the literature indicating that mucosal biopsies have a low sensitivity of 26 % to detect VCE because of the low-grade nevus cell nest formation and the highly keratinized surface of the tumors [7,8]. This finding indicates the importance of obtaining large pieces of tissue by EMR or ESD to detect VCE, as done in our case.…”

Section: Discussionsupporting

confidence: 93%

Verrucous carcinoma of the esophagus – a case report and literature review

et al. 2020

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Background Verrucous carcinoma of the esophagus is a rare disease leading to dysphagia, chest pain, and weight loss. The diagnosis is difficult because even repeated biopsies are often without tumor evidence. We present a patient with verrucous carcinoma of the esophagus and a literature review. Case report A 64-year-old patient with dysphagia and sore throat received esophagogastroduodenoscopy illustrating segmental circumferential verrucous inflammation and Candida esophagitis in the middle part of the esophagus. Repeated mucosal biopsies revealed reactive hyperkeratosis of the squamous epithelium with minimal atypia but without ulcera, eosinophilic esophagitis, or suspicion of cancer. Mucosal infection with adenovirus, herpes simplex virus 1, human papilloma virus types, and cytomegaly virus was ruled out. Veruccous carcinoma was detected finally by endoscopic mucosal resection. The patient was successfully treated by esophageal resection. Tumor stage was G1, pT1b, pN0, L0, V0, Pn0, R0. Conclusion The results suggest that macroscopic suspicion of verrucous esophageal carcinoma should lead to resections of larger tissue specimens by EMR to confirm the diagnosis.

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Section: Discussionsupporting

confidence: 93%

Verrucous carcinoma of the esophagus – a case report and literature review

et al. 2020

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“…38,40,47 Interestingly, coexisting fungal infection was discovered in a couple of cases. 48,49 Verrucous carcinoma should be differentiated from benign lesions, such as papilloma and low-grade squamous dysplasia, which are confined within the epithelium. Despite its slow growth and low metastasis rate, recurrence of verrucous carcinoma is not uncommon and the prognosis is not very promising, possibly because of the late onset of symptoms and difficulty in early diagnosis.…”

Section: Squamous Cell Carcinoma Variantsmentioning

confidence: 99%

Squamous Neoplasia in the Esophagus

Savant

Zhang

Yang

2020

Archives of Pathology &Amp; Laboratory Medicine

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Context.— Squamous lesions of the esophagus encompass a spectrum of disorders ranging from reactive changes and benign papilloma to squamous dysplasia and squamous cell carcinoma, which may pose diagnostic challenges especially in superficial biopsies. Objective.— To provide a review on the typical features of squamous neoplasia in the esophagus, with an emphasis on the key diagnostic features as well as differential diagnosis from mimicking lesions. Data Sources.— Data sources include published peer-reviewed literature and personal experiences of the authors. Conclusions.— Accurate diagnosis of squamous neoplasia requires adherence to established diagnostic criteria, attention to subtle histologic features, and correlation with clinical and imaging findings. In difficult cases, multiple biopsies may be necessary to reach a definitive diagnosis.

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“…VSCC of the oesophagus is rare, with close to 100 cases reported in the literature. [2][3][4][5][6][7][8][9][10] Our institutional review of 87 cases of oesophageal SCC revealed only three cases that showed pure verrucous growth pattern. All cases arose from the distal oesophagus, consistent with that described in the literature.…”

Section: Discussionmentioning

confidence: 99%

“…Verrucous squamous cell carcinoma (VSCC) of the oesophagus is a rare and morphologically distinct variant of oesophageal SCC, with close to a hundred cases reported thus far. [2][3][4][5][6][7][8][9][10] VSCC is characterised by exophytic growth, prominent verruciform architecture, highly differentiated appearance with maturation towards the surface and lack of cytologic atypia at the base and broad-based invasion. The aetiology and tumorigenesis of VSCC is unclear.…”

Section: Introductionmentioning

confidence: 99%

Verrucous carcinoma of the oesophagus is a genetically distinct subtype of oesophageal squamous cell carcinoma

et al. 2021

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Verrucous carcinoma of the oesophagus is a genetically distinct subtype of oesophageal squamous cell carcinoma Aims: Oesophageal verrucous carcinoma (VSCC) is a rare and morphologically distinct type of oesophageal squamous cell carcinoma (SCC). Diagnosing VSCC on biopsy material is challenging, given the lack of significant atypia and the presence of keratinising epithelium and exophytic growth. The molecular pathogenesis of VSCC remains unclear. The aim of this study was to characterise the genomic landscape of VSCC in comparison to conventional oesophageal SCC. Methods and results: Three cases of VSCC from the Brigham and Women's Hospital pathology archive were identified. Formalin-fixed, paraffin-embedded (FFPE) tumour tissue was used for p16 immunohistochemistry (IHC), high-risk human papillomavirus (HPV) in-situ mRNA hybridisation (ISH) and DNA isolation. Tumour DNA was sequenced using a targeted massively parallel sequencing assay enriched for cancer-associated genes. Three additional cases of VSCC were identified by image review of The Cancer Genome Atlas (TCGA) oesophageal SCC cohort. VSCC cases were negative for p16 IHC and high-risk HPV ISH. TP53 mutations (P < 0.001) and copy number variants (CNVs) for CDKN2A (P < 0.001), CDKN2B (P < 0.01) and CCND1 (P < 0.01) were absent in VSCC and significantly less frequent in comparison to conventional SCC. Five VSCC cases featured SMARCA4 missense mutations or in-frame deletions compared to only four of 88 conventional SCC cases (P < 0.001). VSCC featured driver mutations in PIK3CA, HRAS and GNAS. Recurrent CNVs were rare in VSCC. Conclusions: VSCC is not only morphologically but also genetically distinct from conventional oesophageal SCC, featuring frequent SMARCA4 mutations and infrequent TP53 mutations or CDKN2A/B CNVs. Molecular findings may aid in establishing the challenging diagnosis of VSCC.

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Verrucous carcinoma of the esophagus—remains a diagnostic enigma

Cited by 7 publications

References 5 publications

Verrucous carcinoma of the esophagus – a case report and literature review

Verrucous carcinoma of the esophagus – a case report and literature review

Squamous Neoplasia in the Esophagus

Verrucous carcinoma of the oesophagus is a genetically distinct subtype of oesophageal squamous cell carcinoma

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