SolidTumors-Breast,GU,ST,Bone

Question 1

BRCA1 & 2 are what kind of genes?

Answer 1

Tumor Suppressor

Question 2

BRCA1 chromosome.

Answer 2

17q

Question 3

BRCA2 chromosome.

Answer 3

13q

Question 4

What population are BRCA mutations particularly prevalent?

Answer 4

Ashkenazi Jews

Question 5

BRCA mutation inheritance/penetrance.

Answer 5

• Autosomal Dominant

- High penetrance (80% lifetime risk of Breast Ca)

Question 6

BRCA mutations increase risk of what other neoplasms?

Answer 6

• Ovary
• FT
• Colon
• Uterus
• Pancreas

*Males - Prostate

Question 7

In women with BRCA breast cancer, what is the risk of cancer developing in contralateral breast?

Answer 7

25%

Question 8

Other inherited influences on Breast Cancer.

Answer 8

• P53 (Li-Fraumeni)
• PTEN (Cowden)
• CDH1 (Gastric Cancer syndrome)
• STK11 (PJS)

Question 9

Luminal A breast cancer morphology.

Answer 9

Low grade Ductal, NOS

Question 10

Luminal B breast cancer morphology.

Answer 10

High grade Ductal, NOS

Question 11

Luminal A IHC:

• ER
• PR
• Her2

Answer 11

• ER(+)
• PR(+/-)
• Her2(-)

Question 12

Luminal B IHC:

• ER
• PR
• Her2

Answer 12

• ER(+)
• PR(+/-)
• Her2(+)

Question 13

Her2(+) IHC:

• ER
• PR
• Her2

Answer 13

• ER(-)
• PR(-)
• Her2(+)

Question 14

Basal-like IHC:

• ER
• PR
• Her2

Answer 14

Triple-Negative

Question 15

Basal-like IHC (other)

Answer 15

• CK5/6(+)
• P63 (+)
• High Ki67

Question 16

Which Breast Cancer subtype is sensitive to Trastuzumab?

Answer 16

Her2(+) (ER/PR Neg.)

Question 17

Which Breast Cancer subtype is BRCA1 related?

Answer 17

Basal-like

Question 18

T/F: Luminal A and B are sensitive to Endocrine theraphy, with a variable response to Chemo.

Answer 18

True (Luminal A more sensitive to Endocrine, better prognosis)

Question 19

von Hippel-Lindau (vHL) syndrome inheritance/gene/chromosome.

Answer 19

• Autosomal Dominant
• VHL gene (germline mutation)
• Chr3 (3p25-26)

Question 20

Neoplasms ass. w/ vHL.

Answer 20

• CCRCC
• Hemangioblastoma (CNS)
• Pheochromocytoma
• Pancreatic Islet cell
• Pancreatic cysts
• Cystadenomas (epididymis or broad L.)
• Papillary tumor or Endolymphatic sac origin

Question 21

Birt-Hogg-Dube syndrome:

• Inheritance
• Gene
• Protein
• Chromosome

Answer 21

• Autsomal Dominant
• BHD (FLCN) gene
• Folliculin protein
• Chr17 (17p11.2)

Question 22

Features of Birt-Hogg-Dube syndrome.

Answer 22

• RCC (mixed chromophobe/oncocytoma)
• Cystic pulmonary lesions
• Recurrent pneumothorax
• Fibrofolliculomas
• Trichodiscomas
• Acrochordons

Question 23

Familial CCRCC mutation.

Answer 23

Germline mutation of 3p; lacks other features of vHL

Question 24

Familial Papillary RCC:

• mutation
• gene
• chromosome

Answer 24

• Gain of function
• c-MET (protoncogene)
• chr17 (17q31)

Question 25

Syndrome associated with increased incidence of RCC; more commonly Renal Angiomyolipoma.

Answer 25

Tuberous Sclerosis

Question 26

Sporadic CC-RCC cytogenetics.

Answer 26

Chr3 deletions (portions of short arm; p) -Most start with 3p and collect additional ones (14q,9p,8p,6q)

Question 27

Sporadic Papillary RCC cytogenetics. (3) | -Similar to what other neoplasms

Answer 27

- Loss of Y - Gains of 7 and 17 *Similar to urothelial carcinoma

Question 28

Sporadic Chromophobe RCC cytogenetics.

Answer 28

Hypodiploid w/ losses of multiple chromosomes: | -Y,1,2,6,10,13,17,21

Question 29

Renal Carcinoma w/ Xp11.2 translocation: - Population - Gene

Answer 29

- Children and Young Adults | - Transferrin Receptor TFE3 gene at Xp11.2

Question 30

Renal Carcinoma w/ Xp11.2 translocation: | -Histology (3)

Answer 30

- Alveolar (nested)/Papillary architecture - Clear Cells - Psammoma bodies

Question 31

Wilms Tumor: - Gene - Chromosome

Answer 31

WT1 gene on chr11 | -11p13

Question 32

What is WAGR syndrome?

Answer 32

- Wilms tumor - Aniridia - GU anomalies - Retardation

Question 33

WAGR syndrome is caused by what?

Answer 33

Microdeletion of WT1 and the adjacent PAX6 gene

Question 34

What is Aniridia and what cytogenetic abnormality is it associated with?

Answer 34

Absence of the Iris | -PAX6 gene deletion on chr11

Question 35

What is the most common translocation in Lipomas?

Answer 35

t(3;12) | -HMGA2/LPP fusion

Question 36

Well-differentiated liposarcoma and Atypical LIpomatous tumor rearrangement .

Answer 36

12q14-q15 region alterations - Supernumerary ring chromosomes - Translocations - Giant marker chromosomes with amplifications

Question 37

Myxoid and Round cell liposarcoma rearrangement.

Answer 37

t(12;16) | -TLS/DDIT3 fusion

Question 38

Alveolar Rhabdomyosarcoma MC rearrangements. (2)

Answer 38

- t(2;13) PAX3/F0X01 | - t(1;13) PAX7/F0X01

Question 39

Neuroblastoma MC rearrangement.

Answer 39

del(1p), +17 | -n-MYC gene

Question 40

Synovial Sarcoma MC rearrangement.

Answer 40

t(X;18) SSX1/SYT (SSX2/SYT)