Multiple Endocrine Neoplasia Type 1 (MEN1)

Question 1

what is it?

Answer 1

an autosomal dominant condition

classic tumour suppressor in endocrine tissues - mutations typically result in loss/reduced protein function

Question 2

where do tumours form?

Answer 2

tumours are caused all over the body

• parathyroid
• pituitary
• enteropancreatic
• thymic/bronchial carcinoids
• gastric carcinoid
• functioning/ non-functioning adrenal

Question 3

prognosis

Answer 3

can lead to early death (50% of patients will die)

main causes of death - malignant pancreatic neuroendocrine tumour or thymic carcinoids

Question 4

problems with management?

Answer 4

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

Question 5

what is the goal of MEN1 management?

Answer 5

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