Multiple endocrine neoplasia Flashcards
Define Multiple endocrine neoplasias
MEN syndromes are hereditary tumours that cause syndromes with variable neoplastic patterns and characterised with the development of Multiple endocrine tumours
these inculude parathyroid adenomas, Pit adenoma (non-functioning, ACTH, GH, prolactin), gastroendocrine (gastrin, insulin, glucagon), thyroid, pheao
MEN1
having 2 or more MEN1 related tumours-PTH adenoma, Pit adenoma, GI adenoma, ACTH, CNS,
MEN2-generally medullary thyroid and phaeos
MEN2A-thyroid, phaeo, PTH
MEN2B-thyroid, phaeo, marfanoid body habits
Aetiology and risk factors of Multiple endocrine neoplasias
Autosomal dominant disease-either MEN1 or MEN2
MEN1 mutations account for 90% of MEN1
RET proto-oncogones account for MEN2 (with 3 presentations-MEN2A, MEN2B and familial thyroid cancer)
MEN1-loss of menin tumour supression
MEN2-RET-oncogenes
Risk factors:
Epidiemology of Multiple endocrine neoplasias
rare
MEN1- between 1 in 50 000 and 1 in 500000
90% have PTH issues by 50, but only 5% of PTH adenoma are MEN
Prolactin are most common MEN1
gastronoma are rare, but often MEN related
MEN2-only 1000 families in 2000
mainly MEN2A
Pheo present in most MEN2A
But present often with thyroid cancer
Signs and Sx of Multiple endocrine neoplasias
MEN1 specific
Often present with parathyroid adenoma-high calcium-bones, moans, stones and abdominal groans
can have any pit adenoma features-
most common ammenorhoea/erectile dysfunction from prolactinoma
But can be Cushings like, or hyperthyroidism
General
Medullary thyroid cancer symptoms include flushing and diarrhoea (both MEN1 and 2)
Pheao signs (transient mega rise in BP, HR, etc)-Men2
Fibrous, erythematous facial papules (MEN1)
hepatomegaly/splenomegaly-metastases
Investigations of Multiple endocrine neoplasias
Both MEN1 and MEN2 often present with HPTH-
Calcium elevated, phosphate low, PTH high
MEN2-
calcitonin raise-medullary thyroid cancer
urine catecholamines
MEN1-high serum gastrin
prolactin
ACTH/Cortisol
IGF-1
