Multiple Endocrine Neoplasia Type 1 (MEN1) Flashcards
what is it?
an autosomal dominant condition
classic tumour suppressor in endocrine tissues - mutations typically result in loss/reduced protein function
where do tumours form?
tumours are caused all over the body
- parathyroid
- pituitary
- enteropancreatic
- thymic/bronchial carcinoids
- gastric carcinoid
- functioning/ non-functioning adrenal
prognosis
can lead to early death (50% of patients will die)
main causes of death - malignant pancreatic neuroendocrine tumour or thymic carcinoids
problems with management?
lack of genotype-phenotype correlation
variable age-related penetrance
inability to predict disease course
asynchronous/synchronous development of multiple tumours
lack of high-quality evidence to guide treatment
lack of MEN1-specific or personalised therapies
what is the goal of MEN1 management?
prevent premature morbidity and mortality from MEN1-associated tumours whilst preserving quality of life
Screening for tumour begins very young tumours can develop as young as 5