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MedGen > GYN and GU cancers > Flashcards

GYN and GU cancers Flashcards

1
Q

how would you describe GYN cancers?

A

cancers that affect tissue and organ of the female reproductive system

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2
Q

what do we know about ovarian, peritoneal, and fallopian tube cancers?

A

they all arise from the same set of cells

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3
Q

what are the risk factors associated with ovarian cancer? median age of dx?

A

age, early menarche (<12y), late menopause (>52y), HRT or fertility drugs, first pregnancy >30y, obesity

63y median age at dx

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4
Q

greater than 70% of people with ovarian cancer have:

A

stage III/IV disease

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5
Q

what genes are commonly associated with ovca?

A

BRCA1/2, STK11, RAD51D, MLH1, MSH2, EPCAM, BRIP1, RAD51C (also MSH6, PMS2, TP53)

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6
Q

what is the BRCA1/2 mutation prevalence in ashkenzai jewish ind with epithelial ovca vs. non-jewish ind

A

40% AJ vs. 10% non-AJ

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7
Q

what other gyn cancers are associated with mutations in BRCA1/2?

A

fallopian tube, primary preitoneal

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8
Q

what is the cumulative risk (up to 20y) for peritoneal cancer following oopherectomy?

A

3.9-4.3%

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9
Q

how do we screen for ovarian cancer? limitations?

A

CA-125 (poor sensitivity in early stages), pelvic exam, transvaginal U/S (poor sensitivity in early stage, cannot reliably distinguish benign from malignant changes)

insufficient evidence for pop. screening, low prevalence of ovca in gen pop, not cost-effective, appropriate screening is undefined

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10
Q

what factors decrease risks for ovca?

A

multiparity, breast-feeding, OCP usage, oophorectomy, tubal ligation – any time you STOP shedding ovary/oocyte tissue)

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11
Q

what ways can we try to prevent ovca?

A

chemoprevention: OCP (esp. young women with increased risk), limit infertility drug use, limit HRT
surgical: oophorectomy, bilateral tubal ligation (72% risk reduction when used with OCP)

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12
Q

what are the benefits and risks with prophylactic oophorectomy?

A

benefits: 80-96% risk reduction in high-risk women) -> **residual risk for peritoneal cancers & decreases brca risk in premenopausal women
risks: loss of endogenous estrogen (impact heart, bones, sexual function), the effect of HRT options, emotional risks

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13
Q

what is the risk of occult invasive cancer after preventative surgery?

A

3.4%

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14
Q

when should we consider RRSO with various mutations? what if they decline?

A

BRCA1 -> 35-40y
BRCA2 -> 40-45 (depends on FHx)

if decline: TVUS and CA-125 @ 30-35y but not considered sensitive or specific enough to recommend

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15
Q

what are the mean age of onset for ovca with BRCA1/2?

A

1: 48y (28-78y)
2: 50.6 (29-74y)

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16
Q

what recommendation can we make for ovca risk reduction in Lynch syndrome?

A

TAHBSO (remove uterus, ovaries, fallopian tubes, and cervix)

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17
Q

Changes in which genes should lead you to consider/recommend RRSO?

A

BRCA1/2, Lynch genes, BRIP1, RAD51C, RAD51D

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18
Q

what are the tiers of somatic variants?

A 
I-IV
I: STRONG clinical evidence
II: potential clinical evidence
III: VUS
IV: benign or likely benign
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19
Q

How do PARP inhibitors impact cancer cells?

A

lead to an increase in dsDNA breaks by influencing the failure of ssDNA repair, arrest replication fork -> dsDNA breaks

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20
Q

when are PARP inhibitors available?

A

BRCA1/2 and PALB2 variants (inherited and somatic) for metastatic brca and ovca

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21
Q

when can we can pts access immunotherapy? benefits?

A

indicated for Lynch syndrome and MSI-high tumors

first drug not limited to tumor location but rather indication of MMRD

22
Q

what are some of the risk factors for uterine and endometrial cancers?

A

obesity, age, class/race/FHx, irregular menstrual periods, early menarche or late menopause, low or nulliparity, infertility, diabetes, hypertension, estrogen replacement therapy and/or tamoxifen, hereditary predisposition

23
Q

what are some symptoms of uterine and endometrial cancers? how does it’s progression/dx compare to ovca?

A

unusual vaginal spotting, bleeding, discharge, pain in the pelvic region, presence of a lump

typically earlier onset which leads to a better prognosis

24
Q

what are the various types of hysterectomy?

A

partial: only uterus
total: uterus and cervix
radical: uterus, cervix, vagina, ovaries, fallopian tubes

25
Q

how can we treat uterine and endometrial cancer?

A

radiation, chemo, hormonal therapy

26
Q

what’s the prognosis of endo/uterine cancers?

A

majority is stage 1 or 2. makes treatment easier

27
Q

% of various cancers that are hereditary?

A 
9% uterine
12-14% brce
14% prostate
10% crc
24% ovca
28
Q

what parts of the body are GU cancers impacting? ex?

A

affect part of the body that play a role in reproduction and getting rid of waste products in the form of urine or both

ex: prostate, renal, renal pelvis and ureter, blader, testicular, penile, Wilms tumor

29
Q

what is the most cancer dx in men in the US?

A

prostate cancer (1:5 lifetime probablity)

30
Q

what is different about prostate cancer in African American men compared to others?

A

higher incidence and higher mortality rate

31
Q

what are some of the possible side effects of treatment for prostate cancer?

A

impotence and incontinence

32
Q

what risk factors are associated with prostate cancer?

A

FHx - brother or father with prostate cancer more than doubles a man’s risk of developing prostate cancer/risk is higher for men with multiple affected relatives esp if they were young at the time of dx

diet: high red meat or high-fat dairy products and low in fruits and vegetables may raise risk

33
Q

how can we screen for prostate cancer?

A

PSA w/ or w/o digital exam

tests cannot predict likelihood cancer will grow and spread if found

34
Q

when should we consider testing someone for germline mutations for prostate cancer?

A

metastatic prostate cancer
higher grade prostate cancer (Gleason>7) AND close blood blood relative with any:
- Brca <50y
- ovac @ any age
- pancreatic cancer @ any age
- 2 or more brca, panc, or higher grade prostate cancer at any age

35
Q

what is the germline mutation prevalence in individuals with prostate cancer?

A

1:10 (11.8% of men with met prostate cancer)

36
Q

what are the most common types of renal cancers?

A

clear cell (60-75%)
papillary (5-15%)
chromophobic (5-10%)
collecting duct (<1%)

37
Q

what are the risk factors associated with renal cell carcinoma?

A

hereditary: FHx, age (dx <46y vs. 64y in gen pop), sex (male preponderance)
general: obesity, cigarette smoking, alcohol, physical exercise (reduced), high blood pressure

38
Q

how is Birt-Hoge-Dube dx? type of lesions? who often detects it?

A

10 lesions (at least on biopsy proven folliculoma)

folliculomas, trichodiscomas, acrochordons (skin tags)

often picked up by dermatology

39
Q

what features do pts with BHD often have? gene?

A

oral mucose polyps and lipomas

multiple renal carcinomas (chromophobe and oncocytic - also clea cell and papillary in 9 and 2%)
pulmonary cysts
spontaneous pneumothorax

FLCN (17p11.2)

40
Q

What is HLRCC? characteristics?

A

hereditary leiomyomatosis renal cell cancer

cutaneous leiomyomata, renal cancer, uterine fibroids (early-onset and multiple), leiomyosarcomas reported, can affect childbearing, papillary renal cel carcinoma

41
Q

what is the major criteria for HLRCC? definitive dx?

A

multiple cutaneous leiomyomatas with at least on biopsy proven

positive germline FH mutation

42
Q

what is HPRCC? characteristics?

A

hereditary papillary renal cell carcinoma

papillary renal cancer (10-15% of renal cancers), multifocal and bilateral, hereditary cases often overexpression of MET gene due to dups or activating mutations of MET

43
Q

when does tuberous sclerosis present? what % are sporadic?

A

can show up in childhood and often picked up due to renal findings

60-70%

44
Q

what are the major features of TSC? how many are needed for clinical dx?

A

facial angiofibromas or forehead plaques
notraumatic ungual or periungual fibroma
shagreen patch (35%)
multiple retinal nodular hamartomas, calcified subependymal nodule, subependymal giant cell astrocytoma, cardiac rhabdomyoma (single or multiple), Lymphangiomyomatosis and/or renal angiomyolipoma, cortical tubers

45
Q

what is the most common symptom of TSC?

A

seizures (60-70%)

46
Q

what are the urological implications of Lynch syndrome?

A

adrenocortical carcinoma, urothlial carcinoma, testicular cancer, upper tract urothelial carcinoma, prostate adenocarcinoma

47
Q

what is the penetrance of VHL?

A

80-97%

48
Q

what are the different types of VHL?

A

Type 1, 2, 2A, 2B, 2C

49
Q

what features may direct us to VHL?

A

RCC <50y
HB of retina or CNS
adrenal PCC or extra-adrenal paraganglioma

+

mutliple kidney or panc cysts, endolymphatic sac tumors, papillary cystadenomas of the epididymis or broad ligament, neuroendocrine tumors of the panc

50
Q

how likely are you to find a PV in a person that meets clincial criteria for VHL? what % de novo? break down of pathogenic variants?

A

roughly 100%

20% de novo
70% point, 30% complete or partial deletion

MedGen (15 decks)

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