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ENDOCRINE NEOPLASIA SYNDROMES

ANALYSIS OF THE AIP, CDC73, CDKN1B, MEN1 AND RET GENES BY NEXT GENERATION SEQUENCING

The endocrine neoplasia syndromes are a group of disorders characterised by tumours of one or more endocrine gland:

Multiple Endocrine Neoplasia type 1 is  characterised by the triad of parathyroid hyperplasia, pancreatic endocrine tumours and pituitary adenomas.

Multiple Endocrine Neoplasia type 4 is an autosomal dominant disorder characterized by the presence of parathyroid and pituitary tumours in addition to other malignancies.

The spectrum of CDC73-related disorders includes Hyperparathyroidism-jaw tumour syndrome, characterised by primary hyperparathyroidism in late adolescence or early adulthood with some patients developing ossifying fibromas of the mandible or maxilla, Parathyroid carcinoma and Familial Isolated Hyperparathyroidism.

Familial Isolated Pituitary Adenoma (FIPA) is characterised by early-onset disease, often aggressive tumour growth and a predominance of somatotroph and lactotroph adenomas.

Multiple Endocrine Neoplasia type 2A (MEN2A) is diagnosed clinically by the occurrence of two or more specific endocrine tumours: medullary thyroid carcinoma (MTC), phaeochromocytoma, or parathyroid adenoma/hyperplasia.

Multiple Endocrine Neoplasia type 2B (MEN2B) is characterised by the presence of mucosal neuromas of lips and tongue as well as distinctive facies with enlarged lips, a ‘marfanoid’ body habitus and medullary thyroid cancer.

Patients with Familial Medullary Thyroid Cancer (FMTC) have medullary thyroid cancer (MTC) without additional MEN2A or MEN2B-related features.

NHSE test directory codes: R217 Multiple endocrine neoplasia type 1 & R218 Multiple endocrine neoplasia type 2. Testing criteria can be found here.