alphabet soup Flashcards
karatinizing squamous cell carcinoma of the vulva mutation
TP53
viral protein E7 causes what?
RB degradation and p21 and p27 inhibition (inhibitors of cyclin dependent kinases)
viral protein E6 mutations?
p53 degradation and telomerase upregulation
cytokines released by endometriosis
PGE2, IL-1, 6, 8, TNF, NGF, VEGF, MCP, MMPs, and TIMPs
mutations that endometriosis shares with atypical hyperplasia, carcinoma, and endometroid ovarian carcinoma
PTEN and ARID1A
endometriosis mutations leading to production of PGs and estrogen
NR5A1 and ESR1
endometrial hyperplasia without atypia
PTEN (encodes a negative regulator of the PI3K/AKT pathway
atypical endometrial hyperplasia
KRAS and PTEN
carcinoma of the endometrium type 1 (endometroid)
PTEN, KRAS, ARID1A, PIK3CA
type 2 endometrial carcinoma (serous)
early: TP53, aneuploidy
late: FBXW7, PPP2R1A, CCNE1
leimyoma mutation
HMGIC and HMGIY gene rearrangements (regulation of cell cycle); MED 12 mutations
leimyosarcoma
MED 12 mutations
papilloma urothelial carcinoma of the bladder and flat non-invasive carcinoma
FGFR3 gain of function
HRAS activation
Chromosome 9 deletions - CDKN2A (p16 and ARF), PTCH (neg. regulation of HH signaling), TSC1 loss (neg. regulation of mTOR)
invasive papillary and flat urothelial carcinoma of the bladder
TP53 and RB
serous cysadenocarcinoma of the ovary type 1 (low grade)
KRAS, BRAF, or ERBB2
serous cysadenocarcinoma of the ovary type 2 (high grade)
BRCA1 and TP53 mutations, PIK3CA amplification, RB deletions
ovarian mucinous cystadenoma and carcinomas
KRAS mutation
ovarian endometrioid adenocarcinoma
PTEN, PIK3CA, ARID1A, and KRAS mutations (increase PI3K/AKT pathway)
mutations in DNA mismatch repair
CTNNB1 mutations (codes beta-catenin)
p53 mutations in poorly differentiated tumors
dysgerminoma mutations
KIT gene activating mutations
dysgerminoma expression
OCT3, OCT4, and NANOG
elaborates AFP
yolk-sac tumor
elaborates beta-HCG
choriocarcinoma
granulosa cell tumor mutation
FOXL2
sertoli leydig cell tumor mutation
DICER1
phyllodes tumor mutations
gains in chromosome 1
HOXB1 if aggressive
lobular carcinoma/carcinoma in situ mutation
CDH1 - loss of E-cadherin
luminal breast carcinoma (ER+ HER2-) mutations
BRCA2, gains in chromo 1q, losses of chromo 16, activation of PIK3CA
HER2+ breast carcinoma mutations
TP53 germline mutation
triple negative breast cancer mutations
BRCA1, TP53, CK5/6+
prostate adenocarcinoma mutation
AR gene with short CAG repeats
seminoma mutations
reduplication of chromosome 12; KIT activation
seminoma expression
OCT3, OCT4, PLAP, and NANOG
embryonal testicular carcinoma expression
PLAP, OCT3, OCT4, CD30