Tumor Biology

Question 1

PTEN (Cowden syndrome)

Answer 1

Gene involved: PTEN
Clinically: mucocutaneous lesions, GI polyps, macrocephaly, increased risk of breast, endometrial, kidney
Screening: annual mammogram and breast MRI starting at 30-35, consider RRM, annual thyroid U/S

Question 2

Li-Fraumeni syndrome

Answer 2

Gene involved: TP53
Clinically: increased risk many cancers young age - sarcoma, breast, brain, leukemia, lung, adenocortical
Screening: annual CBC/CMP, mammogram and breast MRI starting 20-25, colonoscopy starting 25, sonsider surveillance with whole body/brain MRI

Question 3

Lynch (HNPCC)

Answer 3

Gene involved: MLH1, MSH2, etc
Clinically: increased risk CRC, ovarian, endometrial, pancreas, small intestine, sebaceous skin
Screening: annual colonoscopy starting 20-25, endometrial surveillance starting 30-35, period upper endoscopy, skin surveillance

Question 4

FAP

Answer 4

Gene involved: APC
Clinically: adenomas throughout GI tract usually develop 2nd-3rd decade of life, risk colon ca 90% by age 45, also risk ampullary, thyroid, CNS tumors, hepatoblastoma
Screening: yearly colonoscopy starting age 10-12, egd every 1-3 yrs after colonic polpys develop, colectomy once too many polyps for surveillance

Question 5

MYH-associated polyposis

Answer 5

Gene involved: MUTYH
Clinically: similar to FAP but recessive inheritance
Screening: similar to FAP

Question 6

MEN1

MEN2

Answer 6

MEN1
Pituitary adenoma
Parathyroid hyperplasia
Pancreatic Tumors

MEN2
RET mutation
Parathyroid hyperplasia
Medually thyroid cancer 
Pheochromcytoma
(2b = mucosal neuromas, marfinoid as well)

Question 7

CK7+

Answer 7

lung, ovary, breast, urothelial, mesothelioma

Question 8

CD20+

Answer 8

GI, urothelial, merkel cell

CK7-CK20+: colon, merkel

CK7+CK20+: ovary, transitional cell, biliary, pancreatic

Question 9

mesothelin, WT1, CA 125, PAX8

Answer 9

ovarian

Question 10

CD117+

Answer 10

GIST tumor

Question 11

CDX2+

Answer 11

colon or other gi (pancreaticocobiliary)

Question 12

TMPRSS2:ETS gene fusions and deletion of PTEN tumor suppressor

Answer 12

seen in prostate cancer

Question 13

S100, SOX10

Answer 13

melanoma