Basaloid squamous cell carcinoma of the maxilla: Report of a case and literature review.

PURPOSE: Basaloid squamous cell carcinoma (BSCC) is a rare variant of squamous cell carcinoma characterized by a highly aggressive clinical course. Though typically found in the larynx, oropharynx, and hypopharynx, we report a rare case of BSCC originating in the maxillary sinus in an otherwise healthy 32-year-old male. MATERIALS AND METHODS: Single case report of a patient with BSCC of the maxillary sinus and retrospective chart review of all cases of BSCC of the maxilla at a single academic institution between January 1, 1986 and December 31, 2013. The MEDLINE database was additionally queried for all case series or reports of BSCC arising in the maxilla, and pertinent clinical data were extracted. RESULTS: The clinical presentation, disease course, and management of a patient with BSCC of the maxilla are presented. In this recent case, the patient presented with persistent alveolar pain and a nonhealing tooth infection. Radiographic studies demonstrated a large necrotic mass in the left maxillary sinus that was biopsy-proven as BSCC. The patient underwent surgical resection followed by postoperative radiation without complications. CONCLUSIONS: BSCC of the maxilla is a rare oncologic entity that may progress to late disease stage without obvious clinical signs or symptoms. Optimal treatment involves complete surgical resection followed by postoperative.

Sinonasal and skull base pleomorphic adenoma: a case series and literature review.

BACKGROUND: Pleomorphic adenoma (PA) is the most common benign neoplasm of the major salivary glands. PA of the paranasal sinuses and skull base is an extremely rare pathologic entity. We report 3 cases of sinonasal and skull-base PA (including locoregionally advanced parotid disease) and review other cases in the literature, with special attention to clinical presentation, diagnosis, and management. METHODS: Retrospective review of patients with PA of the sinuses and skull base treated at 2 tertiary academic medical centers between January 1, 1993 and July 1, 2014. The MEDLINE database was additionally searched for all case series or reports of sinonasal or skull-base PA. RESULTS: A total of 32 articles were identified for review. In combination with the authors' cases, a total of 39 patients were found to have sinonasal and/or skull-base PA. The most common primary sites were the nasal septum and lateral nasal wall. Endoscopic resection was employed in 66% of cases, which achieved oncologic control in more than 80% of cases at a mean follow-up of 2 years. CONCLUSION: PA of the sinonasal tract and skull base is a rare, benign tumor that often may be surgically accessible through an endonasal, endoscopic approach. Recurrent disease may behave more aggressively than PA found in the major salivary glands. Accurate tumor sampling is essential for surgical planning, because malignant transformation does occur. In certain cases of unresectable tumors, endoscopic debulking may improve patient symptoms and quality of life.

Recurrent hyperparathyroidism and a novel nonsense mutation in a patient with hyperparathyriodism-jaw tumor syndrome.

OBJECTIVE: To present the case of a hyperparathyroidism-jaw tumor (HPT-JT) patient with a novel nonsense mutation of the CDC73 gene. METHODS: We present the case of a patient with a history of three prior maxillectomies and two prior parathyroidectomies who presented with recurrent primary hyperparathyroidism (PHPT). We also briefly review the literature pertaining to HPT-JT. RESULTS: Genetic analysis revealed a novel nonsense mutation (c.85G>T; pGlu29) in exon 1 of CDC73. The patient's son underwent genetic testing for a CDC73 mutation and was found to be negative. CONCLUSION: HPT-JT is a rare condition characterized by PHPT and benign tumors of the mandible and maxilla. Up to 15% of HPT-JT patients with PHPT have parathyroid carcinoma. HPT-JT is associated with an inactivating mutation of CDC73, a gene that codes for the tumor suppressor protein parafibromin. This report expands our understanding of the genetics underlying this rare disorder and emphasizes the importance of early detection in order to prevent hypercalcemic complications such as parathyroid carcinoma.