A subset of ectomesenchymal chondromyxoid tumours of the tongue show EWSR1 rearrangements and are genetically linked to soft tissue myoepithelial neoplasms: a study of 11 cases.

AIMS: Ectomesenchymal chondromyxoid tumour (ECT) is a rare, benign intraoral neoplasm showing a predilection for the anterior dorsum of the tongue. The World Health Organization includes ECT in the pathological spectrum of soft tissue myoepithelioma. EWS RNA-binding protein 1 gene (EWSR1) rearrangement is found in 45% of cutaneous, soft tissue and bone myoepithelial neoplasms, and pleomorphic adenoma gene 1 (PLAG1) aberrations are found in 37% of EWSR1-negative soft tissue myoepitheliomas. The aim of this study was to evaluate the presence of EWSR1 and PLAG1 rearrangements in ECTs. METHODS AND RESULTS: Eleven formalin-fixed, paraffin-embedded ECTs were evaluated with fluorescence in-situ hybridization probes for EWSR1 (22q12) and PLAG1 (8q12). Among the 11 ECTs tested, three (27.3%) showed EWSR1 rearrangement in >15% of tumour cells, whereas eight (72.7%) cases did not show EWSR1 rearrangement. Eight of nine (89%) ECTs showed gain of EWSR1, probably representing gain of all or part of chromosome 22, in a varying proportion of neoplastic cells ranging between 1.4% and 27.9%. PLAG1 rearrangement was not detected in the successfully hybridized tissue sections (7/11). No correlation was observed between the molecular and histopathological findings, such as morphology of the neoplastic cells, the presence of atypia, and matrical type. CONCLUSIONS: We identified EWSR1 rearrangement in >25% of ECTs. These results suggest that some ECTs are at least genetically related to myoepithelioma of the soft parts. Finally, PLAG1 aberrations do not appear to be critical in the pathogenesis of ECT of the tongue.

Standard examination and adjunctive techniques for detection of oral premalignant and malignant lesions.

This article outlines how to perform a standard comprehensive extraoral and intraoral examination and the existing commercially available adjunctive techniques for the early detection of oral cancer and premalignant lesions. Visualization-based techniques (e.g., autofluorescence and chemiluminescence), toluidine blue vital staining, cytopathologic tests and high-risk human papillomavirus testing are discussed in detail, including the indications and protocols for use, their advantages and disadvantages and clinical cases.

Unusual papillary lesion of the ventral tongue: case report of solitary angiokeratoma of the oral cavity.

Many lesions in the oral cavity may present with a papillary or pebbly clinical appearance. Although the great majority of these papillary lesions are histologically diagnosed as squamous or viral papillomas, there are occasional cases of other more unusual possibilities. Angiokeratomas are uncommon vascular lesions that often present clinically as papillomas. They may also present with other varying clinical appearances that range from pigmented lesions to hemangiomas. However, all forms demonstrate a characteristic microscopic appearance consisting of hyperkeratotic, hyperplastic epithelium covering connective tissue with abundant blood vessels that are sharply confined to the connective tissue papillae. Angiokeratomas generally involve the skin and are often associated with an underlying systemic metabolic disease such as Fabry's disease or fucosidosis. Patients with these systemic diseases may have multiple lesions, with possible involvement of the oral mucosa. However, solitary lesions involving only the oral cavity are rare; only eight previous cases have been documented. In this paper, we describe a case of solitary angiokeratoma presenting as a papillary lesion on the ventral tongue of an 18-year-old male. The lesion was surgically excised and no recurrence has been reported to date. Although this patient had no other lesions or systemic issues, we stress the importance of evaluating a patient with a diagnosis of angiokeratoma of the oral cavity for underlying systemic metabolic disease.

An Unusual Variant of a Common Palatal Salivary Gland Tumor: Case Report of a Pleomorphic Adenoma with Significant Lipomatous Metaplasia.

INTRODUCTION: Salivary gland tumors are relatively common in the junction of the hard and soft palate area of the oral cavity. Pleomorphic adenoma is considered the most common benign salivary gland tumor in this location. Some of the rarer subtypes of this tumor may have a misleading clinical presentation. Recognition of these variants is important since long-standing pleomorphic adenomas have the potential to become malignant. CASE PRESENTATION: A healthy 24-year-old male was referred for a painless, large, slowly growing, exophytic swelling of the right hard and soft palate. Interestingly, the lesion was yellowish in color and soft to palpation, suggestive of an innocuous lipoma or cystic lesion. An incisional biopsy was performed and the diagnosis was consistent with pleomorphic adenoma with a significant adipose tissue component. The patient was referred to an oral surgeon and underwent a complete surgical excision. Upon two-year follow-up, the patient is doing well with no recurrences. CONCLUSION: This case highlights a rare microscopic variant of pleomorphic adenoma with altered clinical presentation that led to an erroneous clinical diagnosis. The importance of taking a biopsy for definitive diagnosis and appropriate management is reinforced.

Primary Oral Melanoma - A Non-Surgical Approach to Treatment via Immunotherapy.

INTRODUCTION: Malignant melanoma is an aggressive form of cancer that commonly affects skin and rarely affects the oral cavity. With poorly understood risk factors and an often-asymptomatic presentation, oral melanoma is difficult to detect until advanced stages of disease. Treatment for oral melanomas has been primarily surgical, and survival rates have been low. However, in recent years, immunotherapy has shown much promise with increased patient survival. CASE PRESENTATION: A 49-year-old male was referred by his primary dentist to a periodontal clinic for management of an alleged unresolved periodontal abscess. The patient had completed full-mouth scaling and root planing and consequently developed a large mass in the left posterior maxilla. Incisional biopsies were performed in multiple locations in the maxillary gingivae, and interpretation revealed atypical melanocytic proliferation and primary melanoma. After appropriate work-up, the patient was treated with two different immunotherapy agents: 1) ipilimumab and 2) pembrolizumab. Results after immunotherapy were favorable, and the tumor significantly decreased in size with no major adverse effects. The response was so strikingly positive that the need for surgical removal was almost eliminated. At the present time, it is unknown whether the patient will receive any surgical treatment barring a recurrence. CONCLUSIONS: Oral mucosal pigmentation is a finding commonly encountered by dentists during clinical patient examinations. However, proper diagnosis of pigmented lesions, especially those associated with malignancy, requires investigations that go beyond clinical examination.

Corrigendum: Gender Differences in the Physical and Psychological Manifestation of Childhood Trauma and/or Adversity in People with Psychosis.

[This corrects the article on p. 1768 in vol. 6, PMID: 26635676.].

Use of a mucoadhesive disk for relief of dry mouth: a randomized, double-masked, controlled crossover study.

BACKGROUND: Dry mouth is a frequent complaint of adults worldwide. In those who experience dry mouth, therapeutic options include the use of salivary substitutes and sialogogues. METHODS: The authors compared the efficacy and safety of mucoadhesive disks (OraMoist, Axiomedic, Zurich; distributed by Quantum Health, Eugene, Ore.) applied three times daily with those of placebo mucoadhesive disks in a double-masked, randomized, controlled crossover study. The primary end point of interest was within-participant differences in subjective (visual analog scale) ratings of dry mouth according to the New York University Bluestone Mouthfeel Questionnaire. The secondary end point was within-participant differences in salivary flow rates. RESULTS: Twenty-seven participants completed the single-site study. The results showed no significant difference between the two types of mucoadhesive disks, both of which were associated with a statistically significant improvement in the subjective experience of moistness across the 60-minute period after application and compared with baseline measures after two weeks of use. Furthermore, both disks were associated with a statistically significant improvement in salivary flow rates across the 60-minute period after application and compared with baseline measures after one and two weeks of use. The disks were well tolerated, and participants did not report any adverse events. CONCLUSIONS: The mucoadhesive disks used in this study were safe and provided symptomatic relief from dry mouth. Practice Implications. Patients with dry mouth may benefit from this novel delivery system.