Path genes Flashcards
(20 cards)
pancreatic neuroendocrine tumors
MEN1 loss of function (MEN1 syndrome)
PTEN and TSC2 loss of function (mTOR activation)
MEN 1 syndrome
MEN1 mutation removes the blockade on JunD leading to transcriptional activation
MEN2 syndrome
RET gain of function - encodes a tyrosine kinase that binds GDNF and transmits growth and differentiation
adrenocortical insufficiency
AIRE mutation (ASP 1 or 2 - autoimmune polyendocrine syndrome)
pheochromocytoma
MEN2 syndrome - RET mutation
VHL mutation
neuroblastoma
N-myc overexpression
pituitary adenoma
GNAS mutation
MEN1 inactivation: MEN 1 syndrome
CDKN1B mutation (loss of p27) - MEN1 like syndrome
RB mutation - aggressive adenomas
craniopharyngioma
abnormalities of WNT signaling pathway, including activating mutations of B-catenin
parathyroid hyperplasia
MEN1 mutation: MEN 1 syndrome
RET mutation : MEN 2a
HRP2 mutation: HPT jaw tumor syndrome
Parathyroid adenoma
PRAD1 mutation resulting in cyclin D overexpression
Familial hypocalciuric hypercalcemia
inactivation of CaSR
autoimmune hypoparathyroidism
AIRE mutations
deletion of 22q11: DiGeorge syndrome
pseudohypoparathyroidism
GNAS mutation
graves disease
PTPN22 and CTLA4 polymorphisms
HLA-DR3 association
Hashimotos
PTPN22 and CTLA4 polymorphisms
follicular adenoma
TSHR or GNAS loss of function
RAS or PIK3Ca mutations (nonfunctioning adenomas)
papillary carcinoma
PET/PTC translocation - activation of MAP kinase pathway
BRAF point mutations
follicular carcinoma
RAS or PIK 3CA gain of function - activations RAS or PI-3K /AKT pathway
PTEN loss of function
PAX8/PPARG fusion gene
anaplastic carcinoma
TP53 inactivation
activating mutation in beta-catenin
medullary carcinoma
RET activation in MEN 2 syndromes and sporadic cases
