Whole-Exome Sequencing of HPV Positive Tonsillar and Base of Tongue Squamous Cell Carcinomas Reveals a Global Mutational Pattern along with Relapse-Specific Somatic Variants

To identify predictive/targetable markers in human papillomavirus positive (HPV+) tonsillar and base of tongue cancer (TSCC/BOTSCC), whole-exome sequencing (WES) of tumours of patients with/without recurrence was performed. Forty primary tumours and adjacent normal tissue were separated by micro-dissection from formalin-fixed paraffin-embedded tissue from patients treated with curative intent 2000–2014 at Karolinska University Hospital. Successful sequencing was obtained in primary tumours of 18 patients without and primaries of 17 with local or distant recurrence, as well as in 10 corresponding recurrences (i.e., five local relapses and five distant metastases) from these 17 patients. One variant—a high-impact deletion in the CDC27 gene—was observed only in primaries of 5/17 patients that had a recurrence after full treatment but in none of those without recurrence. In addition, 3 variants and 26 mutated genes, including CDC27, BCLAF1 and AQP7, were present in at least 30% of all primary tumours independent of prognosis. To conclude, a CDC27 deletion was specific and found in ~30% of samples from patients with a local relapse/distant metastasis and could, therefore, potentially be a prospective marker to predict prognosis. Commonly mutated genes, such as BCLAF1, should be further studied in the context of targeted therapy.

Diagnostic value of tonsillectomy in positron emission tomography and computerised tomography negative carcinoma of unknown primary

<p class="abstract">Carcinoma of unknown primary (CUP) represents a heterogeneous group of malignancy metastasis unique biology of which remains poorly understood. Even after a complete diagnostic workup including positron emission tomography and computerised tomography (PET-CT) scans the primary site of origin may remain unclear. This case series analysed the diagnostic value of bilateral palatine tonsillectomy in evaluating PET-CT negative head and neck squamous cell CUP. From retrospective analysis of cluster of 68 cases with metastatic cervical nodes with no obvious primary referred for ENT evaluation during a period of 20 months, we identified 5 cases where pan endoscopy and radiological evaluation including PET-CT were negative in detecting the primary. All 5 patients underwent bilateral palatine tonsillectomy along with biopsies from base of tongue and nasopharynx as a part of completion of diagnostic work-up. Tonsillar squamous cell carcinoma was revealed by subsequent histopathology examination in 4 out of 5 patients despite negative PET-CT evaluation. Blind biopsies from other sites like nasopharynx and base of tongue were unfruitful. Our experience strongly emphasises the fact that bilateral palatine tonsillectomy has a high yield in detecting primary even in PET negative CUP, though it needs a larger evidence base.</p>

Hamartomatous lesion at the base of tongue: A rare entity

Hamartomas are benign proliferative lesions with no metastatic properties. The hamartoma of the tongue is usually rare. It is usually difficult to diagnose grossly. But can be diagnosed definitely with help of histopathological examination. Our case study is on a 5-year-old female who was asymptomatic and presented with cystic swelling at the base of the tongue which was initially diagnosed as a cyst but was diagnosed histopathologically as a hamartoma.

Base of Tongue Non-Hodgkin’s Lymphoma: Difficult Intubation

Primary Non-Hodgkin’s Lymphoma (NHL) of the tongue is a very rare tumor most commonly affecting elderly patients causing upper airway obstruction and anticipated difficult intubations with space occupying lesions that prevent tongue displacement and hence, scarce space for laryngoscopy. A 78-year-old man presented with progressive stridor and dyspnea. Oral examinations revealed tongue asymmetry and friable ulcerative lesions. During induction of anaesthesia in a scheduled partial glossectomy, difficult nasotracheal intubation was encountered despite using the Glidescope. Laryngeal landmarks could not be identified but successful nasotracheal intubation by hand-assisted and magill forceps manipulation of the endotracheal tube direction under video laryngoscopy. Failed intubation should always be considered in the management of base of tongue tumors. Pre-operative assessment and planning to secure the airway in patients presenting with base of tongue tumors decreases morbidity and mortality, especially when an emergency plan is prepared. No single airway management technique can be used for every patient. Further research is required for guiding the choice of airway management in such patients.

Symptomatic Thyroglossal Duct Cyst Presenting With Synchronous and Localized Tongue Base Extranodal Mantle Cell Lymphoma. A Unique Case Report Demonstrating Lymphoma Colonization of Cyst Wall, Potentially Relating to a Persistent Embryological Foramen Cecum Remnant

A 77-year-old male presented with a progressively enlarging midline neck mass. On further investigation he was found to have synchronous thyroglossal duct cyst and extranodal mantle cell lymphoma (MCL) localized to the base of tongue. Both pathologies were managed simultaneously with a surgical approach and the patient remained in clinical remission at the time of publication without indication for systemic oncological treatment. Histology revealed primary extranodal nonblastoid MCL forming a base of tongue mass, with colonization of the thyroglossal duct cyst. Lymphoma was also found in the epithelium of a crypt-like tract traversing one of the tongue base tumor sections. This tract was anatomically and histologically consistent with documented descriptions of the foramen cecum. This case report illustrates a previously undescribed temporal, clinical, and histological association between a base of tongue MCL and symptomatic thyroglossal duct cyst. We provide evidence for a potential causal relationship for the presentation of the thyroglossal duct cyst as a result of oropharyngeal MCL, in the absence of clinical and histological evidence of disseminated disease, directly infiltrating from its tongue base origin to the infrahyoid neck region, potentially via an embryologic foramen cecum remnant. We also highlight the crucial role of the histopathologist in multidisciplinary clinicopathological discussion in demonstrating how fundamental embryological and microanatomical relationships can unite apparently separate diseases.