Path molecular Flashcards

1
Q

MED12 mutation

A

leiomyoma and leiomyosarcoma

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2
Q

endometrial tp53 mutation

A

-type 2 EM Ca (serous)

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3
Q

PTEN mutation

A

-Endometrial hyperplasia –> Type 1 endometrial ca

-

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4
Q

MMR/mlh1 gene defect

A

type 1 EM Ca

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5
Q

HMGIC and HMGIY (ch12 and ch6)

A

leiomyoma

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6
Q

KRAS

A
  • low grade serous tumors of the ovary
  • mucinous tumors of the ovary
  • endometrial hyperplasia: nonatypical –> atypical
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7
Q

KOH test

A
  • vulvovaginal candidiasis

- Trichomonas whiff test

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8
Q

NAATs (amplified nucleic acid tests)

A

chlamydia trichomatis

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9
Q

HPV 6 and 11

A

(vulvar) condyloma acuminatum

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10
Q

HPV 16 and 18

A
  • Vulvar-IN –> (vulvar) basaloid and warty carcinomas
  • Vaginal-IN –>SCCa vagina
  • Cervical Ca
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11
Q

PAS(Alcian blue stain) +, cytokeratin 7+, S100-

A

(vulva) Extramammary Paget Disease

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12
Q

p16 over expression bc of increased CD14.

A

(cervix) SIL (Squamous Intraepithelial Lesion)

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13
Q

Ki-67 overexpression is indicative of what activity and is the marker of what?

A

Indicates high mitotic activity (brown stain). Marker for SIL

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14
Q

uterine TP53

A

Type 2 uterine endometrial Ca

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15
Q

Normal function of PTEN

A

Inactivation of PI3K, stopping PI3K from enhancing estrogen receptors and increasing expression at gene targets, stopping overgrowth of estrogen dependent cells.

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16
Q

Increased PI3K/AKT results in?

A

increased estrogen receptor activation

17
Q

PI3K, TP53, PTEN

A

Malignant mixed mullerian tumors (uterine endometrial)

18
Q

JAZF1 and SUZ12 translocation/fusion(?)

A

Low grade uterine endometrial stromal sarcoma

19
Q

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

A

leiomyoma

20
Q

KRAS, BRAF, ERBB2

A

Low grade serous borderline epithelial ovarian tumor

21
Q

TP53, BRCA1/2

A

High grade serous Ca (Epithelial)

22
Q

KRAS (ovarian)

A

mucinous tumors of the ovary

23
Q

serum marker CA-125

A

Monotors expected recurrence and progression of ovarian Ca

24
Q

alpha feto protein

A

yolk sac ovarian tumor

25
Q

B-hCG elevation

A
  • Germ Cell Choriocarcinoma (malignant, fatal)
  • Gestational Choriocarcinoma (malignant, curable)
  • Complete/partial mole
26
Q

inhibin - serum marker for… and function

A
  • Marker for granulosa cell ovarian tumor

- Function: inhibits FSH

27
Q

FOX 2 mutation

A

adult type granulosa cell ovarian tumor (sex cord stromal tumor)

28
Q

50% of ____ have DICER1 mutation

A

Sertoli-Leydig Cell Tumor (ovarian)

29
Q

sFlt1 and sENG

A

Angiogenic factors released from placenta as a result of hypoxia, involved in PREECLAMPSIA.

30
Q

Function of sFlt1

A

Antagonizes VEGF - decreases maternal/placental angiogenesis in PREECLAMPSIA.

31
Q

Function of sENG

A

Inhibits TGF-B, decreasing endothelial proliferation fo NO, resutling in systemic vasoconstriction, HTN, hypoperfusion in PREECLAMPSIA.

32
Q

hPL

A

Placental Site Trophoblastic Tumor