Pathology Flashcards
Mutations in noninvasive low-grade papillary bladder carcinoma
Gain of function mutation in FGFR3 resulting in constitutive activation; activating mutations in HRAS
Mutations in high grade bladder carcinomas
loss of function mutations in TP53 and RB
Chromosomal abnormality in bladder carcinomas
loss of genetic material on chromosome 9, which includes CDKN2A and PTCH
How mutational order affects prognosis of bladder carcinoma
if FGFR3 and RAS mutations are first, less likely to be invasive; if TP53 mutation is first, more likely invasive
Role of genetics in prostate carcinoma
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
Biomarkers of prostate cancer
Urinary PCA3 and TMPRSS2-ERG
p63 and breast cancer
p63 is an immunomarker for myoepithelial cells so if none present, then more likely neoplastic
Triple negative breast cancer genetics and staining
70% of BRCA1 patients get it; 86% of patients with it have p53 mutation early in course; CK5/6+
Luminal A breast cancer profile
usually ER+, PR+/-, Her-2 negative
Location of Her-2
chromosome 17; fish will show overamplification of it in Her2 positive
Breast cancer profile with germline BRCA2 mutation
ER+, HER2 negative, (50-65% of cancers), “luminal”
Breast cancer profile with germline TP53 mutations
HER2 positive (20% of cancers), “HER2 enriched”
Breast cancer profile with germline BRCA1 mutations
ER-, HER2-, (15% of cancers), “Basal like”
Mutations in Phyllodes tumors of breast
Gain in chromosome 1q, overexpression of HOXB13
Type 1 endometrial carcinoma age
55-65
Type 2 endometrial carcinoma age
65-75
Type 1 endometrial carcinoma clinical setting and morphology
unopposed estrogen, obesity, HTN, DM; endometrioid
Type 2 endometrial carcinoma clinical setting and morphology
atrophy, thin physique; serous, mixed mullerian tumor
Type 1 endometrial carcinoma precursor
hyperplasia
Type 2 endometrial carcinoma precursor
serous endometrial intraepithelial carcinoms
Type 1 endometrial carcinoma genetic abnormalities
PTEN, ARID1A, PIK3CA, KRAS, FGF2, CTNNB1 (Wnt signaling), Microsatellite instability, TP53
Type 2 endometrial carcinoma genetic abnormalities
TP53, PIK3CA, FBXW7 (MYC, cyclin D regulator), CHD4 (regulator of chromatin), PPP2R1A