Usually occurring entirely intrasellarly or extending suprasellarly (intra-suprasellar), Rathke’s cleft cysts (RCCs) can present with an intrasphenoidal location. Extrasellar positions are rare. To date, only seven patients with intrasphenoidal RCC have been reported in the literature. Despite the rarity of the condition and the lack of pathognomonic radiological features, preoperative diagnosis remains challenging. A trans-sphenoidal approach can be adopted to treat this type of cyst, which has great clinical relevance. Awareness of this different presentation of RCC before respective management may be of value in its approach. Intrasphenoidal RCC should be diagnosed preoperatively and the surgical approach should be changed accordingly by aspiration and partial removal before the histological examination.
Merkel cell carcinoma is a pathologic diagnosis mainly observed in sun-exposed cutaneous areas, like the head and neck. Ultraviolet (UV) exposure and immunosuppression are the common predisposing factors. Merkel cell carcinoma of the head and neck is quite an uncommon disease. This case report involves a 56-year-old man who exhibited a skin lesion on the nasal dorsum with a mass in the right maxillary sinus. The biopsies from both sides were diagnostic for Merkel cell carcinoma. The patient underwent endoscopic sinus surgery and removal of the skin lesion with free margins. The patient has been free of disease for the last 20 months now and maintains follow-up with endoscopy and imaging in the Ear Nose Throat office. Only a few cases of Merkel cell carcinoma of the nasal mucosa have been reported in the literature. We report our approach and management of this rare pathologic presentation.
Background/Objectives: The methylation of the hypermethylated oncological region (THOR) of human telomerase reverse transcriptase (hTERT) may forecast tumour aggressiveness. This pilot study aimed to evaluate THOR methylation as a potential biomarker for recurrence/malignant transformation in salivary gland pleomorphic adenomas (PA). Methods: THOR methylation was assessed by quantitative pyrosequencing in 96 parotid tissue samples (benign and malignant), including non-neoplastic parotid tissue, PA, recurrent PA (rPA), and carcinomas, along with their adjacent tissues. TERT promoter mutations (TPMs) were analysed by Sanger sequencing. Results: THOR methylation significantly differed across the seven groups. Malignant tissues showed higher THOR methylation than non-neoplastic tissues, whereas benign tumours showed no significant difference from non-neoplastic tissue. THOR methylation in rPA was closer to carcinoma than to normal tissue, similar in rPA and tissues adjacent to rPA, and higher in tissues adjacent to carcinomas than in non-neoplastic tissues. A subset of PA-adjacent tissues showed epigenetic alterations, suggesting an increased risk of recurrence or malignant transformation (5–15%). No TPMs were detected. Conclusions: THOR methylation may add information to differentiate normal from carcinogenic tissues and, as such, may be included in a biomarkers panel. Epigenetic alterations in PA-adjacent tissues with normal histology highlight the need for improved diagnostic markers.
1 January 2021 in Surgery, Gastroenterology and Oncology
Background: Lingual schwannomas are rare benign nerve sheath tumours within the oral cavity; paediatric presentations are uncommon and may delay recognition. Case: A healthy 14-year-old girl presented with a long-standing, bilobulated, firm (~2 cm) nodule on the right lateral tongue, mildly tender and functionally impacting feeding, with accelerated growth in recent months and no cervical lymphadenopathy. Contrast-enhanced cervicofacial CT showed a well-circumscribed, oblong enhancing lesion (~18 × 8 mm) without deep extension or suspicious nodes, consistent with localized nodular disease. Complete transoral excision was performed. Histopathology confirmed schwannoma; immunohistochemistry showed diffuse S100 and CD34 positivity, EMA negativity, and preserved nuclear INI1, supporting schwannoma and helping exclude perineurioma or epithelioid MPNST. Outcome: Uneventful recovery; no early recurrence on follow-up. Conclusion: In adolescents with persistent tongue masses, schwannoma should be considered. Imaging supports surgical planning, while the definitive diagnosis is histopathological; complete excision is typically curative with excellent functional outcomes.