Paris Tamiolakis

Human papillomavirus (HPV)-associated non-salivary adenocarcinoma of the oropharynx is exceptionally rare and poorly defined. We report a multi-institutional series of 12 cases from 6 tertiary centers. Histologic, immunohistochemical, HPV testing, molecular, and follow-up data were reviewed. Among 11 patients with available sex data, all were men; the median age was 62 years (range: 46 to 70 y). The cohort comprised 9 primary oropharyngeal adenocarcinomas and 3 metastatic adenocarcinomas, including a right neck metastasis of presumed oropharyngeal origin and 2 distant metastases in patients with previously documented HPV-associated oropharyngeal squamous cell carcinoma. Primary sites included the palatine tonsil or tonsil-palate region (n=7), base of tongue (n=1), and oropharynx, not otherwise specified (n=1). Among cases with available T-category, 5 of 6 were T3/T4. All tumors showed high-grade adenocarcinoma morphology without a recognizable squamous component, with infiltrative glandular, ductal, or cribriform architecture. Diffuse p16 expression was present in all cases, and high-risk HPV was confirmed by polymerase chain reaction or in situ hybridization. p40 was negative in the tumor cell population in cases 1 to 6, 8, 9, 11, and 12, whereas case 7 showed p40 and CK5/6 expression confined to abluminal cells. Molecular profiling in 2 cases identified alterations or variants involving PIK3CA and PIK3R1 . Follow-up in 6 patients with primary tumors showed distant metastases in 3 and disease-specific death in 1. HPV-associated nonsalivary adenocarcinoma of the oropharynx is a diagnostically challenging tumor that expands the morphologic spectrum of HPV-related oropharyngeal carcinoma. Recognition requires exclusion of salivary-type and metastatic adenocarcinoma and confirmation of HPV association.

Introduction: Pleomorphic adenoma (PA) is the most common salivary gland tumour and typically harbours gene fusions involving the PLAG1 and HMGA2 genes. Here we present a rare case of PA with a TGFBR3‐PLAG1 gene fusion. Case Report: A 75‐year‐old female patient presented with a long‐standing right parotid lump. Core biopsy histology was suggestive of a PA but next‐generation sequencing revealed the presence of TGFBR3‐PLAG1 gene fusion which has been described as strongly associated with myoepithelial salivary carcinoma (MECA). Complete excision of the lesion confirmed that it was a PA with no evidence of malignancy. There is no evidence of recurrence 1 year after surgery. Discussion/Conclusion: Although TGFBR3‐PLAG1 gene fusion is mostly associated with MECA, it may occasionally occur in PA. For the time being, final diagnosis and patient management must remain rooted in the comprehensive histological assessment and not solely rely on the underlying gene mutations/fusions.

The aim of the present study is to report the demographic and clinical characteristics of all jaw cysts diagnosed in a single Oral Pathology Department. 5294 cases of jaw cysts diagnosed during a 38-year period were retrospectively collected and classified according to the latest classification of Head and Neck Tumors of the World Health Organization. The patients’ gender and age, as well as the main clinical features of the cysts were retrieved from biopsy report forms. Jaw cysts were more common in male patients, with a male to female ratio of 1.6:1. Most patients were in the 4th–6th decade of life, with a mean age of 42.3 ± 16.1 years. There was no jaw predilection and the majority of lesions were more commonly encountered in the anterior region of the maxilla, followed by the molar region of the mandible. The most common jaw cyst was radicular cyst followed by dentigerous cyst, residual cyst and odontogenic keratocyst. The majority of jaw cysts are of inflammatory origin and represent a sequale of pulp necrosis. However, other type of jaw cysts may also be found.

Oral neural tumors (ONTs) are rare lesions and represent reactive or neoplastic proliferations of nerve sheath cells. The purpose of the present study is to report the clinical, demographic and histopathologic features of 157 ONTs diagnosed in a single Oral Pathology Department and review the pertinent literature. 157 cases of ONTs diagnosed during a 44-year period were retrospectively collected and the diagnosis was reconfirmed by studying representative haematoxylin and eosin stained tissue sections. The patients' gender and age, as well as the main clinical features of the lesions, were retrieved from the biopsy submission forms. The 157 ONTs represented approximately 0.4% of 35,590 biopsies accessioned during the study period. They affected 71 male and 86 female patients with a mean age of 38.4±18.8 years. They mainly appeared as asymptomatic nodules of normal or white colour on the tongue, lip mucosa and hard palate. The most common ONT was granular cell tumour (38.9%) followed by neurofibroma (19.7%), schwannoma (15.9%), traumatic neuroma (15.9%), palisaded encapsulated neuroma (8.3%) and nerve sheath myxoma (1.3%). This study confirmed the rarity of ONTs. Their clinical characteristics mimic other oral lesions; thus, microscopic examination is the only mean to arrive at a definitive diagnosis. Key words:Oral neural tumors; oral neural neoplasms; neurofibroma; oral neurofibroma; schwannoma; oral schwannoma; neurilemmoma; oral neurilemmoma; granular cell tumor; oral granular cell tumor; traumatic neuroma; oral traumatic neuroma; palisaded encapsulated neuroma; oral palisaded encapsulated neuroma.

A few cases of oral schwannomas in paediatric patients have appeared in the literature so far; however, there are no studies focusing solely on paediatric oral schwannomas. The aim of this study is to report a case of palatal schwannoma in a young female patient and review the pertinent literature on oral schwannomas in paediatric patients.

Oral verruciform xanthoma (OVX) is a rare lesion. The purpose of the present study is to describe the clinical features of 13 OVXs and review all cases reported in the English literature. Thirteen cases of OVX diagnosed during a 47-year period were retrospectively collected. The patients gender and age, as well as the main clinical features of the lesions were retrieved from the biopsy request forms. Pubmed, Scopus and Google ScholarTM electronic databases were searched with the key word verruciform xanthoma. Only cases of histologically confirmed OVX were included in the study. The 13 OVXs represented approximately 0.04% of 35,617 biopsies accessioned during the study period. They affected 13 patients, 8 males and 5 females with a mean age of 48.8±14 years. They mainly appeared as asymptomatic granular nodules or plaques, with elastic or normal consistency and white color, in the gingiva or hard palate. Literature review yielded 416 cases of OVX. With the addition of cases of the present study, 429 cases of OVX have been presented in the English literature. OVX has a slight male predominance with a male to female ratio of 1.4:1 and the majority of patients are in the 5th to 7th decade of life. Clinically, OVX mainly presents as an asymptomatic, single, papillary or granular plaque or nodule, with elastic or soft consistency and white, red or pink color. It measures approximately 1cm and is most commonly located on the gingiva, tongue, hard palate or buccal mucosa. The treatment of choice is surgical excision with little rates of recurrence. Verruciform xanthoma is a rare lesion most often encountered on the ginigival mucosa. As its clinical presentation is not pathognomonic, it should be included in the differential diagnosis of verrucous or papillary lesions.

Background: To describe the incidence, demographic and clinical features of 1187 localized gingival enlargements. Material and Methods: 1187 cases of localized gingival enlargements diagnosed during a 20-year period were retrospectively collected. The patients' gender and age, as well as the main clinical features of the tumors were retrieved from the biopsy report forms. Results: The 1187 localized gingival enlargements represented 6.23% of 19.044 biopsies performed during the study period. 756 females and 427 males were affected with a mean age of 41.92 +/- 19.68 years. The lesions appeared as smooth (52.4%), granular (17.9%,) or rough (13.16%) tumors, elastic (50.73%) or soft (29.56%) in consistency and red (60.8%), normal (28.58%) or white (8.17% in color. The majority of the lesions (85.17%) were reactive in origin with pyogenic granuloma being the most common. In 1.1% of the cases a diagnosis of malignant lesion was rendered. Conclusions: All localized gingival enlargements should be submitted for microscopic examination because in approximately 1% of cases they are malignant.

The increasing demand for cosmetic procedures in the orofacial area nowadays, results in a growing number of complications attributable to soft tissue fillers, including the development of foreign body granuloma. The purpose of this study is to present two additional cases of oral foreign body granulomas caused by liquid silicone and hyaluronic acid respectively and review the pertinent literature regarding the demographics, the clinical appearance, the histopathology and the treatment of these lesions.