B6-059 MEN Flashcards
low TSH indicates
hyperthyroidism
high TSH indicates
hypothyroidism
initial imaging modality for suspected thyroid mass
ultrasound
the more cyst content in a thyroid nodule, the […] suspicion of malignancy
higher
medullary thyroid carcinoma is associated with MEN[…]
MEN2
inheritance pattern of MEN2 mutation
autosomal dominant
3 diseases commonly associated with MEN2A
medullary thyroid carcinoma (100%)
pheochromocytoma (50%)
primary hyperparathyroidism (20%)
RET proto-oncogene mutation is associated with
MEN2A
2 important tumor markers for medullary carcinoma
calcitonin
CEA measurement
every MTC patient who is RET positive needs to be evaluated and screened for [2]
pheochromocytoma
primary hyperparathyroidism
if an MTC patient is RET negative, but has high calcitonin (>500), what is the next best step?
imaging studies to evaluate for metastasis
if an MTC patient is RET negative, and has low calcitonin (<500), what is the next best step?
thyroidectomy with or w/o cervical LAD
consider external beam radiation for extensive disease
which is more common, MEN2A or MEN2B?
MEN2A
conditions associated with MEN2B [4]
MTC (100%)
pheochromocytoma (50%)
marfanoid habitus
mucosal and digestive neurofibromas
MEN2[…] is generally more aggressive with a younger age of onset
MEN2B
is MEN2B associated with primary hyperparathyroidism?
no
marfanoid appearance
mucosal neuroma
MEN2B
all new sporadic MTC cases should be screened for […] mutation
RET
when is thyroidectomy recommended for patients with a RET mutation in codon 918?
within the first year of life
why is genetic testing for the RET mutation so important?
determines when prophylactic thyroidectomy and routine screenings for PHEO and hyperparathyroidism should be done
how do you screen for pheochromocytoma? [3]
-plasma fractionated metanephrines 24 -hour urinary fractionated catecholamines and metanephrines
-abdominal CT
rule of 10s for pheochromocytomas
-bilateral adrenal glands
-extra adrenal
-above diaphragm
-familial (now 40%)
-malignant
pheochromocytomas triad
headaches
sweating
palpitations
half of affected pheochromocytoma patients have sustained
hypertension
**most of remainder have paroxysmal spells
diagnostic criteria for pheochromocytoma [3]
-elevated plasma fractionated metanephrine
-elevated urinary fractionated catecholamine, metanephrine, or VMA
-presence of an adrenal mass on CT or T2 weighted MRI
pheochromocytoma requires preoperative treatment with
alpha blockers followed by beta blockers
**to avoid unopposed alpha adrenergic receptor stimulation, avoid hypertensive crisis
syndromes associated with pheochromocytoma [5]
von Hippel Lindau syndrome
NF 1
MEN2
familial paragangliomas (SDH mutation)
TMEM 127 mutation
regulate serum calcium in the body [2]
vitamin D
parathyroid
**makes them good labs for suspected hyperparathyroidism
high calcium and high PTH
is diagnostic for?
primary hyperparathyroidism
most effective treatment for hyperparathyroidism?
parathyroidectomy
when serum albumin is abnormal, you need to
correct calcium
**for “missing” calcium that is normally bound to albumin
equation to correct Calcium
ca+0.8 x (4-albumin)
if calcium is low, PTH will do what to correct it? [3 mechanisms]
- increase bone reabsorption
- increase calcium reabsorption and decreased phosphorus reabsorption in kidney, activate vitamin D
- increase calcium absorption in intestine with the activated 125 vitamin D
when does primary hyperparathyroidism need to be treated surgically? [4]
- if serum calcium is above upper limit of normal
- evidence of osteoporosis
- evidence of kidney dysfunction (including stones)
- age <50
MEN1 related PHPT or sporadic PHPT:
onset 20-25
MEN1
MEN1 related PHPT or sporadic PHPT:
M:F 1:1
MEN1
MEN1 related PHPT or sporadic PHPT:
multiglandular
MEN1
MEN1 related PHPT or sporadic PHPT:
high recurrence rate following surgery
MEN1
MEN1 related PHPT or sporadic PHPT:
50-70 y
sporadic
MEN1 related PHPT or sporadic PHPT:
M:F 1:3
sporadic
inheritance pattern of MEN1 mutation
autosomal dominant
[…] mutation is related to primary hyperthyroidism occurring at unusually young age
MEN1 gene
MEN1 mutation is associated with cancer in what organs?
3 Ps
pituitary
pancreas
parathyroid
tumor suppressor gene that encodes menin
MEN1
diagnostic criteria for MEN1 [3]
2 or more MEN1 tumors OR
familial MEN1 tumors in first degree relative OR
MEN1 mutation positive
[MEN1 or MEN2]
excellent phenotype-genotype correlation
MEN2
because MEN[..] is not well-differentiated, it has a higher mortality
MEN1
leading cause of death in MEN1 patient
untreated tumors
screening/surveillance important
which MEN disorder is recurrent primary hyperparathyroidism at an early age and multiple family members with NETs more associated with?
MEN1
Zollinger-Ellison
insulinomas
VIPomas
glucagonomas
are associated with
MEN1
**fall under pancreatic endocrine tumors
3 Ps of MEN1
pituitary tumors
pancreatic endocrine
parathyroid adenomas
associated with MEN2B [4]
medullary thyroid carcinoma
pheochromocytoma
mucosal neuromas
marfanoid habitus
associated with MEN2A [3]
parathyroid hyperplasia
medullary thyroid carcinoma
pheochromocytoma
most appropriate next test in patient with hypercalcemia
PTH
urine 24-free cortisol and dexamethasone suppression test for
cushings
plasma fractionated metanephrines test for
pheochromocytoma
should be obtained on all patients who present with medullary thyroid carcinoma or MEN2 related diseases
RET proto-oncogenes
serum CEA and calcitonin are used to screen for
medullary thyroid cancer
serum calcium and PTH are used to screen for
primary hyperparathyroidism
calcitonin over 500 indicates
metastasis of medullary thyroid carcinoma
primary hyperparathyroidism is associated with
MEN1 and MEN2A
NOT MEN2B