ENDOCRINE NEOPLASIA SYNDROMES

ANALYSIS OF THE MEN1, RET, CDKN1B AND AIP 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.

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.