Mulitiple Endocrine Neoplasia Type 2(MEN2) Flashcards
what type of MEN2 is more common
MEN2A makes up 90-95% cases
what are the different types of MEN2
MEN2A and MEN2B(sometimes called MEN3)
what does MEN2A describe
combination of medullary thyroid cancer(MTC) associated with phaeochromocytoma and parathyroid tumours
what does MEN2B describe
MTC and phaeochromocytoma associated with marfanoid habitus, mucosal neuromas, medullated corneal fibres, intestinal autonomic ganglion dysfunction
what is a phaeochromocytoma
a rare adrenaline secreting tumour(chromaffinoma) of inner part of the adrenal gland or similar tissue elsewhere
what gene is mutated in MEN2A and MEN2B
RET gene
what is typically the first presentation in MEN2
medullary thyroid cancer(MTC)
what are the signs/symptoms of MTC
neck mass, diarrhoea and flushing(metastatic disease), ectopic ACTH and Cushing’s
what investigations are used to investigate and diagnose MTC
neck USS and FNA, measurement basal serum calcitonin, imaging to detect spread
briefly describe what the treatment for MTC involves
thyroidectomy and lymph dissection, dependant on spread of disease
depending on type of RET mutation/risk then thyroidectomy carried out sooner
what does the age of onset/timing of MTC in MEN2 indicate
type of RET mutation
at what stages in life does MTC present in highest, high and moderate risk RET mutations
highest = MTC in first few years of life high = median age diagnosis between 20-25 moderate = median age 42
what treatment opportunity is there for some RET mutation carriers
prophylactic thyroidectomy, to prevent MTC developing
how often does phaeochromocytoma and hyperparathyroidism occur in MEN2
phaemochromocytoma = 40-50% hyperparathyroidism = ~30%
describe the diagnosis and treatment of phaeochromocytoma
diagnosis = elevated urinary or plasma metanephrines treatment = surgical
