Molecular 2 (syndromes)

Question 1

FAP genetics

Answer 1

AD, APC gene, 30% new mutations

Question 2

other tumors with FAP

Answer 2

fundic gland polyps, SI adenoma/carcinoma, ampullary adenoCA, desmoid, thyroid CA

Question 3

vHL assd tumors

Answer 3

hemangioblastomas, CCRCC, pancreatic cysts, islet cell tumors, ovarian/epididymal cystadenomas, endolymphpatic sac tumor

Question 4

vHL gene location

Answer 4

3p

Question 5

Tuberous Sclerosis assd tumors

Answer 5

cardiac rhabdomyosarcoma, LAM, SEGA, AML, CCRCC, oncocytoma

Question 6

Tuberous Sclerosis skin findings

Answer 6

angiofibromas, periungual fibromas, shagreen patches, hypopigmentation

Question 7

Tuberous Sclerosis genetics

Answer 7

AD, TSC1 (9q, hamartin), TSC2 (16p, tuberin)

Question 8

MEN1 clinical

Answer 8

parathyroid adenomas, pituitary adenomas, pancreatic islet cell tumors

Question 9

MEN1 gene location

Answer 9

11q

Question 10

MEN2 A/B similarities

Answer 10

Medullary thyroid CA, Pheochromocytoma

Question 11

MEN2A

Answer 11

parathyroid adenomas (with medullary CA and pheo)

Question 12

MEN2B

Answer 12

mucosal neuromas, gangliomeuromas of intestine, Marfanoid habitus (with medullary CA and pheo)

Question 13

MEN2 genetics (and familial medullary CA)

Answer 13

RET gene 10q

Question 14

Carney complex also called

Answer 14

LAMB, NAME

Question 15

Primary pigmented adrenocortical dz seen in

Answer 15

Carney complex, causes Cushing syndrome

Question 16

Large cell calcifying Sertoli cell tumor seen in

Answer 16

Carney Complex

Peutz-Jeghers

Question 17

Psammomatous melanotic schwannoma in

Answer 17

Carney COmplex

Question 18

Carney Complex clinical

Answer 18

face and mucosal lentigines,
cellular blue nevus,
myxomas (cardiac, others)
thyroid adenomas
pituitary adenomas
primary pigmented adrenocortical dz
Large cell calcifying sertoli cell tumor

Question 19

Carney Triad

Answer 19

1. gastric GIST
2. Pulmonary chondroma
3. Extra-adrenal paraganglioma

Question 20

PTEN gene location and assd syndromes

Answer 20

10q
Cowden
Proteus
Bannayan-Riley-Ruvalcaba

Question 21

Lhermitte-Ducleos pathogmonic for:

Answer 21

Cowden (cerebellar dysplastic gangliocytoma)

Question 22

Non-malignant findings in Cowden

Answer 22

intestinal hamartomas, lipomas, fibromas, mucocutaneous lesions, microcephaly, mental retardation

Question 23

Malignant findings in Cowden

Answer 23

breast CA, follicular thyroid CA, colon, endometrial CA

Question 24

Peutz-Jeghers genetics

Answer 24

AD, STK gene, ch19p

Question 25

Peutz-Jeghers clinical

Answer 25

hamartomas of SI, colon, somach
mucocutaneous hyperpigmentation
SCTAT
calcifying sertoli cell tumor

Question 26

SCTAT seen in

Answer 26

Peutz-Jeghers

Question 27

Birt-Hogg-Dube defining

Answer 27

fibrofolliculomas
pneumothorax
renal tumors

Question 28

renal tumors in Birt-Hogg-Dube

Answer 28

multifocal, bilateral, combined oncocytoma/chromophobe

Question 29

NF1 (vonRecklinghausen) gene location

Answer 29

17q - neurofibromin

Question 30

NF1 clinical

Answer 30

cafe au lait
freckling
plexiform neurofibromas
Lisch nodules
MPNST

Question 31

NF2 gene

Answer 31

22q merlin

Question 32

NF2 clinical

Answer 32

bilateral vestibular schwannomas
meningiomas
ependymomas
astrocytomas

Question 33

Gaucher enzyme

Answer 33

glucocerebrosidase, GBA gene

Question 34

Sphingolipidoses

Answer 34

Gaucher
Niemann-Pick
Fabry
Tay-Sachs

Question 35

Krabbe dz

Answer 35

galactocerebrosidase def