Path genes

Question 1

pancreatic neuroendocrine tumors

Answer 1

MEN1 loss of function (MEN1 syndrome)

PTEN and TSC2 loss of function (mTOR activation)

Question 2

MEN 1 syndrome

Answer 2

MEN1 mutation removes the blockade on JunD leading to transcriptional activation

Question 3

MEN2 syndrome

Answer 3

RET gain of function - encodes a tyrosine kinase that binds GDNF and transmits growth and differentiation

Question 4

adrenocortical insufficiency

Answer 4

AIRE mutation (ASP 1 or 2 - autoimmune polyendocrine syndrome)

Question 5

pheochromocytoma

Answer 5

MEN2 syndrome - RET mutation

VHL mutation

Question 6

neuroblastoma

Answer 6

N-myc overexpression

Question 7

pituitary adenoma

Answer 7

GNAS mutation
MEN1 inactivation: MEN 1 syndrome
CDKN1B mutation (loss of p27) - MEN1 like syndrome
RB mutation - aggressive adenomas

Question 8

craniopharyngioma

Answer 8

abnormalities of WNT signaling pathway, including activating mutations of B-catenin

Question 9

parathyroid hyperplasia

Answer 9

MEN1 mutation: MEN 1 syndrome
RET mutation : MEN 2a
HRP2 mutation: HPT jaw tumor syndrome

Question 10

Parathyroid adenoma

Answer 10

PRAD1 mutation resulting in cyclin D overexpression

Question 11

Familial hypocalciuric hypercalcemia

Answer 11

inactivation of CaSR

Question 12

autoimmune hypoparathyroidism

Answer 12

AIRE mutations

deletion of 22q11: DiGeorge syndrome

Question 13

pseudohypoparathyroidism

Answer 13

GNAS mutation

Question 14

graves disease

Answer 14

PTPN22 and CTLA4 polymorphisms

HLA-DR3 association

Question 15

Hashimotos

Answer 15

PTPN22 and CTLA4 polymorphisms

Question 16

follicular adenoma

Answer 16

TSHR or GNAS loss of function

RAS or PIK3Ca mutations (nonfunctioning adenomas)

Question 17

papillary carcinoma

Answer 17

PET/PTC translocation - activation of MAP kinase pathway

BRAF point mutations

Question 18

follicular carcinoma

Answer 18

RAS or PIK 3CA gain of function - activations RAS or PI-3K /AKT pathway
PTEN loss of function
PAX8/PPARG fusion gene

Question 19

anaplastic carcinoma

Answer 19

TP53 inactivation

activating mutation in beta-catenin

Question 20

medullary carcinoma

Answer 20

RET activation in MEN 2 syndromes and sporadic cases