Pathology Flashcards

1
Q

Mutations in noninvasive low-grade papillary bladder carcinoma

A

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

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2
Q

Mutations in high grade bladder carcinomas

A

loss of function mutations in TP53 and RB

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3
Q

Chromosomal abnormality in bladder carcinomas

A

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

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4
Q

How mutational order affects prognosis of bladder carcinoma

A

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

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5
Q

Role of genetics in prostate carcinoma

A

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

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6
Q

Biomarkers of prostate cancer

A

Urinary PCA3 and TMPRSS2-ERG

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7
Q

p63 and breast cancer

A

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

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8
Q

Triple negative breast cancer genetics and staining

A

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

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9
Q

Luminal A breast cancer profile

A

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

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10
Q

Location of Her-2

A

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

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11
Q

Breast cancer profile with germline BRCA2 mutation

A

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

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12
Q

Breast cancer profile with germline TP53 mutations

A

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

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13
Q

Breast cancer profile with germline BRCA1 mutations

A

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

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14
Q

Mutations in Phyllodes tumors of breast

A

Gain in chromosome 1q, overexpression of HOXB13

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15
Q

Type 1 endometrial carcinoma age

A

55-65

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16
Q

Type 2 endometrial carcinoma age

A

65-75

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17
Q

Type 1 endometrial carcinoma clinical setting and morphology

A

unopposed estrogen, obesity, HTN, DM; endometrioid

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18
Q

Type 2 endometrial carcinoma clinical setting and morphology

A

atrophy, thin physique; serous, mixed mullerian tumor

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19
Q

Type 1 endometrial carcinoma precursor

A

hyperplasia

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20
Q

Type 2 endometrial carcinoma precursor

A

serous endometrial intraepithelial carcinoms

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21
Q

Type 1 endometrial carcinoma genetic abnormalities

A

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

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22
Q

Type 2 endometrial carcinoma genetic abnormalities

A

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

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23
Q

Type 1 endometrial carcinoma behavior

A

indolent, spreads via lymphatics

24
Q

Type 2 endometrial carcinoma behavior

A

Aggressive, intraperitoneal and lymphatic spread

25
Q

Causes of placental infections

A

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

26
Q

Birth issues from Toxoplasma

A

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

27
Q

Birth issues from Rubella

A

deafness, neurologic defects, cardiac malformation etc. in neonate

28
Q

Birth issues from Cytomegalovirus

A

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

29
Q

Birth issues from HSV

A

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

30
Q

Funisitis

A

exudate and congestion of umbilical cord

31
Q

Complications of Acute Chorioamnionitis

A

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

32
Q

Mechanism of pre-eclampsia

A

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

33
Q

Cytokines of pre-eclampsia

A

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

34
Q

Effects of pre-eclampsia

A

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

35
Q

Causes of placental ischemia and infarction

A

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

36
Q

Effects of oligohydramnios

A

compressive injuries to fetus, pulmonary hypoplasia, fetal renal disease

37
Q

Peripartum cardiomyopathy

A

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

38
Q

Mutation in differentiated VIN

A

TP53; precursor lesion for Keratinizing squamous cell carcinoma

39
Q

HPV E7

A

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

40
Q

HPV E6

A

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

41
Q

Key for diagnosis of chronic endometritis

A

plasma cells in the stroma

42
Q

Genetics of Endometriosis

A

mutations in PTEN and ARID1A

43
Q

How to differentiate well differentiated endometrial tumors from hyperplasia

A

Hyperplasia has stroma intervening between cells

44
Q

Mutations in Leiomyomas

A

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

45
Q

Mutations in Leiomyosarcomas

A

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

46
Q

Mutations in low grade serous ovarian carcinomas

A

KRAS, BRAF, ERBB2

47
Q

Mutations in high grade serous ovarian carcinomas

A

TP53 mutations, PIK3CA amplifications, RB deletions

48
Q

Mutation in mucinous ovarian tumors

A

KRAS

49
Q

Karyotype of bening ovarian teratomas usually

A

46XX

50
Q

Mutations in Dysgerminomas

A

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

51
Q

Mutation in adult granulosa cell tumors

A

FOXL2

52
Q

Mutations in Sertoli-Leydig cell tumors

A

DICER1

53
Q

Nerves involved in erection

A

parasympathetics from S2-S4

54
Q

Nerves involved in ejaculation

A

sympathetics from T10-T12

55
Q

Kallman syndrome

A

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

56
Q

Growth factors implicated in BPH

A

EGF and IGF-1,2