Pathology

Question 1

Mutations in noninvasive low-grade papillary bladder carcinoma

Answer 1

Gain of function mutation in FGFR3 resulting in constitutive activation; activating mutations in HRAS

Question 2

Mutations in high grade bladder carcinomas

Answer 2

loss of function mutations in TP53 and RB

Question 3

Chromosomal abnormality in bladder carcinomas

Answer 3

loss of genetic material on chromosome 9, which includes CDKN2A and PTCH

Question 4

How mutational order affects prognosis of bladder carcinoma

Answer 4

if FGFR3 and RAS mutations are first, less likely to be invasive; if TP53 mutation is first, more likely invasive

Question 5

Role of genetics in prostate carcinoma

Answer 5

X linked AR gene that contain shorter CAG repeats are associated with increased risk - short CAG and high rates seen in AA, long CAG and low rates seen in Asians

Question 6

Biomarkers of prostate cancer

Answer 6

Urinary PCA3 and TMPRSS2-ERG

Question 7

p63 and breast cancer

Answer 7

p63 is an immunomarker for myoepithelial cells so if none present, then more likely neoplastic

Question 8

Triple negative breast cancer genetics and staining

Answer 8

70% of BRCA1 patients get it; 86% of patients with it have p53 mutation early in course; CK5/6+

Question 9

Luminal A breast cancer profile

Answer 9

usually ER+, PR+/-, Her-2 negative

Question 10

Location of Her-2

Answer 10

chromosome 17; fish will show overamplification of it in Her2 positive

Question 11

Breast cancer profile with germline BRCA2 mutation

Answer 11

ER+, HER2 negative, (50-65% of cancers), “luminal”

Question 12

Breast cancer profile with germline TP53 mutations

Answer 12

HER2 positive (20% of cancers), “HER2 enriched”

Question 13

Breast cancer profile with germline BRCA1 mutations

Answer 13

ER-, HER2-, (15% of cancers), “Basal like”

Question 14

Mutations in Phyllodes tumors of breast

Answer 14

Gain in chromosome 1q, overexpression of HOXB13

Question 15

Type 1 endometrial carcinoma age

Answer 15

55-65

Question 16

Type 2 endometrial carcinoma age

Answer 16

65-75

Question 17

Type 1 endometrial carcinoma clinical setting and morphology

Answer 17

unopposed estrogen, obesity, HTN, DM; endometrioid

Question 18

Type 2 endometrial carcinoma clinical setting and morphology

Answer 18

atrophy, thin physique; serous, mixed mullerian tumor

Question 19

Type 1 endometrial carcinoma precursor

Answer 19

hyperplasia

Question 20

Type 2 endometrial carcinoma precursor

Answer 20

serous endometrial intraepithelial carcinoms

Question 21

Type 1 endometrial carcinoma genetic abnormalities

Answer 21

PTEN, ARID1A, PIK3CA, KRAS, FGF2, CTNNB1 (Wnt signaling), Microsatellite instability, TP53

Question 22

Type 2 endometrial carcinoma genetic abnormalities

Answer 22

TP53, PIK3CA, FBXW7 (MYC, cyclin D regulator), CHD4 (regulator of chromatin), PPP2R1A

Question 23

Type 1 endometrial carcinoma behavior

Answer 23

indolent, spreads via lymphatics

Question 24

Type 2 endometrial carcinoma behavior

Answer 24

Aggressive, intraperitoneal and lymphatic spread

Question 25

Causes of placental infections

Answer 25

Hematogenous - TORCH: Toxoplasma, Other (syphilis, HIV, etc.), Rubella, Cytomegalovirus, HSV; ascending from vagina: acute chorioamnionitis

Question 26

Birth issues from Toxoplasma

Answer 26

protozoan from cat feces, causes microcephaly, fever, rash, seizures in neonate

Question 27

Birth issues from Rubella

Answer 27

deafness, neurologic defects, cardiac malformation etc. in neonate

Question 28

Birth issues from Cytomegalovirus

Answer 28

most common transplacental infection in US; causes deafness, neurologic defects in neonate

Question 29

Birth issues from HSV

Answer 29

gotten intrapartum from maternal genital lesions; causes skin infection and worse in neonates; prevent with C section

Question 30

Funisitis

Answer 30

exudate and congestion of umbilical cord

Question 31

Complications of Acute Chorioamnionitis

Answer 31

fetal vasculitis and thrombosis (inflammation is procoagulant); premature rupture of membranes (PROM) and premature L&D (due to inflammatory cytokines)

Question 32

Mechanism of pre-eclampsia

Answer 32

trophoblasts fail to convert spiral arteries from small caliber resistance vessels to large caliber capacitance vessels that can accommodate fetal blood flow demand

Question 33

Cytokines of pre-eclampsia

Answer 33

ischemic placenta release anti angiogenic substances: sFlt-1 (VEGF receptor decoy) and soluble endoglin (TGFbeta receptor decoy) - causes maternal HTN, proteinuria, and edema

Question 34

Effects of pre-eclampsia

Answer 34

fetal intrauterine growth restriction, maternal DIC, HELLP syndrome, eclampsia, atherosclerotic changes of placental arteries

Question 35

Causes of placental ischemia and infarction

Answer 35

pre-eclampsia (most common), hypercoagulable states, autoimmune vasculitis, smoking

Question 36

Effects of oligohydramnios

Answer 36

compressive injuries to fetus, pulmonary hypoplasia, fetal renal disease

Question 37

Peripartum cardiomyopathy

Answer 37

a myocarditis taht leads to dilated cardiomyopathy (2/3) without other cause, 3 mo before/after delivery, most commonly in multiparous AA

Question 38

Mutation in differentiated VIN

Answer 38

TP53; precursor lesion for Keratinizing squamous cell carcinoma

Question 39

HPV E7

Answer 39

binds the active form of RB and promotes its degradation; binds and inhibits p21 and p27, two important cyclin-dependent kinase inhibitors

Question 40

HPV E6

Answer 40

promotes degradation of p53 in high risk HPVs and in low risk HPVs acts on Notch signaling pathway

Question 41

Key for diagnosis of chronic endometritis

Answer 41

plasma cells in the stroma

Question 42

Genetics of Endometriosis

Answer 42

mutations in PTEN and ARID1A

Question 43

How to differentiate well differentiated endometrial tumors from hyperplasia

Answer 43

Hyperplasia has stroma intervening between cells

Question 44

Mutations in Leiomyomas

Answer 44

Rearrangement of 12q14 (HMGIC) and 6p (HMGIY); mutation of MED12

Question 45

Mutations in Leiomyosarcomas

Answer 45

complex, highly variable karyotypes that frequently include deletions; MED12 mutations

Question 46

Mutations in low grade serous ovarian carcinomas

Answer 46

KRAS, BRAF, ERBB2

Question 47

Mutations in high grade serous ovarian carcinomas

Answer 47

TP53 mutations, PIK3CA amplifications, RB deletions

Question 48

Mutation in mucinous ovarian tumors

Answer 48

KRAS

Question 49

Karyotype of bening ovarian teratomas usually

Answer 49

46XX

Question 50

Mutations in Dysgerminomas

Answer 50

OCT-3/4, NANOG, activating mutations of KIT

Question 51

Mutation in adult granulosa cell tumors

Answer 51

FOXL2

Question 52

Mutations in Sertoli-Leydig cell tumors

Answer 52

DICER1

Question 53

Nerves involved in erection

Answer 53

parasympathetics from S2-S4

Question 54

Nerves involved in ejaculation

Answer 54

sympathetics from T10-T12

Question 55

Kallman syndrome

Answer 55

hyogonadotropic hypogonadism with inability to smell due to X linked mutation; also can have Congenital deafness, facial asymmetry, cleft palate, cerebellar dysfunction, cryptorchism, renal dysfunction

Question 56

Growth factors implicated in BPH

Answer 56

EGF and IGF-1,2