Multiple Endocrine Neoplasia Type 1(MEN1) Flashcards
what type of genetic disorder is MEN1
monogenic endocrine tumour disorder
what gene is involved in the MEN1
MEN1 gene
what endocrine tumours are associated with MEN1 gene mutation
pancreatic NETs, parathyroid adenomas, pituitary adenomas, adrenocorticol tumours
what non-endocrine features are associated with MEN1 gene mutation
lipomas, collagenomas, angiofibromas, meningiomas
what is the most common clinical feature seen in MEN1
primary hyperparathyroidism(>95%)
what type of inheritance pattern is seen with MEN1
autosomal dominant
what do mutations in the MEN1 gene usually result in
loss of/reduced protein function
why is MEN1 an important condition
due to the premature morbidity and mortality of patients, and the considerable psychological burden
describe the morbidity and mortality associated with MEN1
50% affected die as direct result, high proportion have premature mortality, leading cause of excess death in thymic carcinoids and malignant pancreatic neuroendocrine tumour
why is the management of MEN1 difficult
lack of genotype-phenotype correlation, variable age-related penetrance, inability to predict disease course, development multiple tumours, lack of evidence to guide treatment
what is the goal in the management of MEN1
preventing premature morbidity and mortality from associated tumours, whilst preserving QOL
what are the suggested indications for germline MEN1 genetic testing
meeting clinical criteria for MEN1, suspicious of MEN1, first degree family member with known MEN1 mutation
when should genetic testing for MEN1 be carried out
early as possible(eg by age of 5 if asymptomatic)
what is the clinical criteria for MEN1
2 or more associated MEN1 tumours or diagnosis of familial MEN1
what presentations would raise suspicion of MEN1
multiple parathyroid adenomas <40y/o, recurrent hyperparathyroidism, gastrinoma or multiple pancreatic NETs any age
