Family with low-grade neuroendocrine carcinoma of salivary glands, severe sensorineural hearing loss, and enamel hypoplasia

Four sibs in a family on the Isle of Man, two brothers and two sisters rang ing in age from 33 to 45 years, presented with low-grade malignant tumors o f the submandibular gland in three cases and of the nasal cavities and maxi llary sinuses in one. The neoplasms were all of the same histological type, apparently hitherto undescribed, showing well-differentiated neoplastic du cts, surrounded by neoplastic myoepithelial cells, together with sheets of epithelial cells expressing neuroendocrine markers by immunohistochemistry, Cervical neck node metastases have developed in all four cases, In the sib with a primary sinonasal neoplasm, widespread bloodstream metastases also became manifest and a single such metastasis in his brother, All four sibs have severe enamel hypoplasia and the same lesion is present in 5 of their 11 children, In the two male patients, severe sensorineural hearing loss ha s developed in adult life, unilateral in the left ear in one brother, bilat eral in the other, In the brother with bilateral sensorineural hearing loss , magnetic resonance imaging revealed a vestibular schwannoma on the left s ide, which is currently under treatment, The inherited hearing loss is thou ght to be unilateral in this case also. (C) 1999 Wiley-Liss, Inc.