MEN, APS, Tumour syndromes Flashcards
APS Type 1
- gene
- features
AIRE
AKA
APECED: autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- mucocutaneous candidiasis
- 1ary hypoparathyoidism
- 1ary Addison disease
- 1ary hypogonadism
- ectodermal dystrophy
- oophoritis, testicular failure
- alopecia
- vitiligo
- hepatitis
- thyroiditis (1ary hypothyroidism)
- keratitis
- DM1
- hypophysitis
APS Type 2
- gene
- features
polygenic
assoc w HLA-DR2, DR4
- 1ary Addison disease
- autoimmune thyroid disease (Hypo>hyper)
- T1DM
-1ary hypogonadism
vitiligo
other autoimmune diseases
MEN1
1) Primary hyperparathyroidism /parathyroid hyperplasia/adenoma(>90 percent)
2) Pituitary adenoma (10-20 percent)
Prolactinoma
Growthhormone-secreting
Corticotropin-secreting
Non-hormone-secreting
3) Enteropancreatic tumors (60-70 percent):
Gastrinoma (Zollinger-Ellison syndrome)
Insulinoma
Vasoactive-intestinalpolypeptide-secreting
Glucagonoma
Pancreaticpolypeptide-secreting
Non-hormone-secreting
Other
Other:
angiofibromas
collagenous
lipomas
leiomyomas
thymic NETs
bronchial NETs
meningiomas and ependymomas
adrenocortical tumours
MEN2a
classic features
- Medullary thyroid Ca (Virtually all pts)
screening: Calcitonin (levels correlate with tumor mass)
usually in 3rd decade - Pheo (~50% of pts)
Mean age of presentation 25-32y - Primary hyperparathyroidism/parathyroid neoplasia (10-25% of pts)
*May be the first manifestation of MEN2A
Almost always multi-glandular, but often mild and asymptomatic
*RET gene is expressed in such MEN2A associated paraT tumors
Gene assoc w MEN2A/B
RET gene
tyrosine kinase
Other types of MEN2a than classic
1) With cutaneous lichen amyloidosis
- can occur sporadically or as a familial form
2) With Hirschsprung’s
MEN2b
- Medullary thyroid Ca (almost all pts)
**More aggressive and at an earlier age than MEN2A - Pheo (~50% of pts)
Other:
- Mucosal neuroma (lips, tongue)
- Intestinal ganglioneuroma
- Marfanoid habitus (but NO ectopia lentis or aortic abnormalities)
- Failure to produce tears
- Eyelid eversion
- Other developmental abnormalities: decreased U/L body ratio, kyphoscoliosis, lordosis, joint laxity, myelinated corneal nerves
Other: disturbance of colonic function, chronic constipation, megacolon
What are:
Metanephrines
Catecholamines
Metanephrines = metanephrine and normetanephrine
Catecholamines = epinephrine, norepinephrine, dopamine
Carney complex
gene: PRKAR1A
inactivating mutation
Purple Pigs and Green Goats like to Trapeze
PPNAD = primary pigmented nodular adrenocorical disease (Cushing syndrome)
Pituitary adenoma/hyperplasia
- GH, PRL
Thyroid neoplasm
Gonadal tumour
Lentiginosis
Pigmented nevi
Cardia and extra cardiac myxomas
Pigmented melanotic schwannoma
RET gene - what is the bad codon
634
Von Hippel Lindau
Pheo
pancreatic NETs
retinal angiomas
renal cysts and clear cell recall cell carcinoma
pancreatic cysts, cyst adenomas, pancreatic NETs
endolymphatic sac tumours
cystadenomas of the epididymis/broad ligament
Von Hippel Lindau
inactivating mutation of VHL, a tumour suppressor gene
PPlease RRewind:
Pheo
pancreatic NETs
(paraganglioma)
retinal hemangioblastoma
renal cysts and clear cell recall cell carcinoma
pancreatic cysts, cyst adenomas, pancreatic NETs
endolymphatic sac tumours
cystadenomas of the epididymis/broad ligament
Li-Fraumeni syndrome
AD cancer predisposition syndrome
tumour p53 suppressor gene
*adrenocortical tumours
– virilization, ACTH independent Cushing syndrome
breast cancer
sarcoma
Cowden syndrome
PTEN hamartoma syndrome
follicular and papillary thyroid cancer
Cowden syndrome
PTEN hamartoma tumour syndrome
follicular and papillary thyroid cancer
macrocephaly
autism spectrum disorder
