Multiple endocrine neoplasias-2В, the description of the case

Background. The term "Multiple Endocrine Neoplasias" (MEN) refers to a group of inherited autosomal dominant syndromes caused by tumors or hyperplasia of several endocrine glands. Traditionally, two types of this pathology are distinguished: MEN-1 and MEN-2. The latter is further divided into three variants: hereditary medullary thyroid cancer; MEN-2A – Sipple syndrome; and MEN-2B – Gorlin syndrome. MEN-2B is based on a mutation in the RET gene, located on the 10th chromosome. Mutation of this gene is usually accompanied by uncontrolled cell proliferation, primarily in the cell lines of medullary thyroid cancer and pheochromocytoma. The primary manifestation of MEN-2B is medullary thyroid cancer, with pheochromocytoma developing in half of the patients. Gorlin syndrome has several features that distinguish it from other MEN syndromes. Thus, it is the rarest of the neoplasias. It has the most serious prognosis – most untreated patients die before the age of 30. This pathology also has distinct external manifestations allowing for clinical suspicion. Patients exhibit characteristic skull shape changes, spinal deformities, and neuromas of the tongue, oropharynx, and eyelids. In two-thirds of patients, pathology of the large intestine develops – megacolon or Hirschsprung's syndrome. A number of patients have eye pathology, with one of the most frequent manifestations being dry eye syndrome.

Results. This article presents a case of Gorlin syndrome diagnosed in an 18-year-old young man. Unusual external manifestations were the reason for his hospitalization for further diagnostics. Analysis of visual symptoms combined with identified nodular changes in the thyroid gland suggested MEN-2B syndrome, which was subsequently confirmed by additional investigative methods. The patient was found to have a significant increase in the level of calcitonin in the blood; a fine-needle biopsy of the thyroid nodule yielded cytological data suspicious for thyroid cancer; a computer tomography scan of the abdomen revealed signs of megacolon. The patient's parents showed no phenotypic signs of multiple endocrine neoplasia syndrome, which suggested that the pathology in this patient arose as a result of a mutation.

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