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Womens Health Exam 3 > Neoplasms and Genetic Counseling > Flashcards

Neoplasms and Genetic Counseling Flashcards

1
Q

Breast Cancer epidemiology

A

● Leading cause of female cancers
● 281,550 cases in the US in 2021 (43,600 deaths)
● 75% occur in women > 50 yrs; Average woman has a 1 in 9 lifetime risk
● Yes, men get it too (women to men; 150:1)
● Strongly correlated with BReast CAncer genes

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2
Q

Breast Cancer etiology

A

● Most start from the epithelial cells of the glands of the milk ducts
(more to come in “Types” and “Sub-types”)

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3
Q

Breast Cancer risk factors

A

● Age over 50
● Familial risk – 1st degree relative
● Gene Mutations – BRCA1 and BRCA2
● Hormone-dependent
○ Early menarche
○ Later first full-term pregnancy
○ Late menopause
○ Use of HRT estrogen plus progesterone (6-7 yrs of use doubles risk)
● Obesity
● Moderate alcohol intake
● Chest radiation before age 30 yrs

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4
Q

Breast Cancer presentation

A

● Breast mass/nodule (document size and location)
○ More likely to be painless
○ Hard and/or irregular
○ Tethered or fixed to chest wall
● Dimpling
● Skin changes “peau d’orange”
● Nipple discharge or retraction
● Enlargement or shrinkage of the breast

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5
Q

Breast Cancer DDX

A

● Fibroadenoma
● Cysts
● Fat necrosis
● Abscess
● Lymphoma

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6
Q

Breast Cancer diagnosis

A

● Diagnostic mammogram (not the same as
screening)
○ Takes longer, varied angles, magnification of
area of concern
● Additional imaging usually for higher risk
○ Targeted breast U/S
○ MRI (High sensitivity, but not specific →
increased biopsies)
● Breast biopsy

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7
Q

Breast Cancer types

A

● Ductal carcinoma in situ (DCIS)– pre-cancer, starting it the milk ducts
● Invasive (advanced DCIS)
● Inflammatory breast cancer (1-5%)
● Metastatic breast cancer
● Subtypes: Triple negative (10-15%)

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8
Q

Breast Cancer staging

A

● TNM classification
● Genetic test and DNA
sequencing with
specific gene
expression

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9
Q

Breast Cancer treatment

A

● Based on staging and gene expression
○ HER2, ER, PgR
● Surgical- lumpectomy, partial or complete mastectomy, etc
● Radiation
● Systemic treatments
○ Endocrine Therapy (selective estrogen-receptor modulators “SERM”)
○ Anti-HER2 – monoclonal antibodies (Herceptin)
○ Chemotherapy

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10
Q

Ovarian Cancer etiology

A

● Epithelial tissue
● Germ cell tumors
● Sex cord-stromal tumors

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11
Q

Ovarian Cancer risk factors

A

● Age over 50 (63 yo median age at Dx)
● Early menarche or late menopause
● Familial risk
● Gene Mutations
○ BRCA1 – 39–46% lifetime risk of ovarian cancer
○ BRCA2 – 2–20% risk of ovarian cancer
○ Lynch syndrome – 5-10% lifetime risk of ovarian cancer
● Endometriosis/Pelvic radiation possible contributors

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12
Q

Familial risk for Ovarian cancer

A

○ 2nd degree relative (3.5% increased risk)
○ 1st degree relative (5% increased risk)
○ Two relatives with ovarian cancer (7% increased risk)

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13
Q

Ovarian Cancer S/S

A

● Early stage – presents with vague and ill defined symptoms
● Late stage – abdominal pain or bloating, early satiety, and/or urinary urgency or
frequency. Menstrual abnormalities in reproductive age (15%)
○ The majority of women present with late stage disease

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14
Q

Ovarian Cancer diagnosis

A

● Pelvic exam – Adnexal Mass
● Pelvic U/S – Solid mass (hypoechoic)
● Lab studies
○ CA-125
● CT/MRI extent of the cancer
● Surgical excision
○ Pathology

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15
Q

Ovarian Cancer types

A

● Epithelial (80-85%)
● Germ cell tumors (5%)
○ Found in 2nd and 3rd decades of life
○ Tumor markers to monitor
● Sex cord-stromal tumors (1.2%)

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16
Q

Ovarian Cancer staging

A

● TNM classification
● Genetic testing
● Human epididymis protein
4, lactate dehydrogenase,
alpha fetoprotein,
carcinoembryonic antigen

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17
Q

Ovarian Cancer treatment

A

Based on staging
● Total hysterectomy with a bilateral (unilateral) salpingo-oophorectomy
● Chemotherapy
● Radiation (germ cell)
● Supportive care

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18
Q

USPSTF recommendation grading for screening for ovarian cancer

A

D - no recommendation for screening

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19
Q

Uterine Cancer: different types of tumors

A

○ Benign – uterine fibroid (leiomyoma)
■ More common in black females, 2-3x > than in white females
○ Malignant
■ Most (80%) are endometrial adenocarcinomas
■ Lifetime risk of 2.4% for white females, and 1.3% for black females
● Estrogen plays important role in gland proliferation

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20
Q

Uterine Cancer risk factors

A

● Obesity
● Postmenopausal estrogen treatment
● Lynch Syndrome
● Long-term use of Tamoxifen
● Pelvic radiation

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21
Q

Black box for tamoxifen

A

Tamoxifen antiestrogenic in the breast but is
associated with weak estrogenic effects in uterine epithelium→ increased risk of endometrial cancer

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22
Q

Uterine Cancer S/S

A

● Postmenopausal bleeding
● Premenopausal women
○ Atypical bleeding – between cycles, heavy, or prolonged
○ Reproductive dysfunction – infertility, miscarriage, complications
● Pelvic mass…with or without bleeding
● Pelvic pressure/pain (+/-)

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23
Q

Uterine Cancer DDx

A

● Complications of early pregnancy
● Endometrial hyperplasia (w/ or w/out Atypia)
● Endometrial or cervical polyps
● Intrauterine device
● Various genital or metastatic cancers
● Hormonal/perimenopause

24
Q

Uterine Cancer Diagnosis

A

● Imaging – Ultrasound
● Biopsy – endometrial biopsy w/o or w/ Hysteroscopy

25
Uterine Cancer types
● Endometrial (Endometrium) – 80% ● Sarcoma (Myometrium) – 3-9% (50-60 years old) ○ Leiomyosarcoma (1-2%) ○ Endometrial Sarcoma (8%) ● Leiomyoma (Smooth muscle tumor) – Benign
26
Uterine Cancer staging
● TNM ○ Stage 1 – 75-85% of disease is localized to the uterus ○ Stage 2-3 – 10-20% ● Genetic testing – Lynch
27
Uterine Cancer treatment
○ Hysterectomy with removal of ovaries and fallopian tubes ■ Stage 1 ○ Chemotherapy for later stages ■ Node involvement ○ Hormonal ■ Progesterone ○ Immunotherapy
28
Leiomyoma
● Most common pelvic neoplasm (benign) in reproductive years ● More common in black women ● Increase in incidence 50-60 years old ● When symptomatic – abnormal uterine bleeding and/or pelvic pain/pressure, reproductive dysfunction
29
Leiomyoma Exam/Dx
● Abdominal/pelvic exam, Fundal height ● Pelvic U/S – Transvaginal ultrasound has high sensitivity (95 to 100 percent
30
Leiomyoma US findings
● Well defined, solid, hypoechoic mass ● Calcification is seen as echogenic foci with shadowing ● Cystic areas of necrosis or degeneration may be seen
31
Screening – Endometrial/Uterine Cancer
No recommended screening Postmenopausal bleeding is cancer until proven otherwise
32
Pap smears are classified by a naming system called the Bethesda system and include:
● ASC-US: Atypical squamous cells of undetermined significance ● ASC-H: Atypical squamous cells in which high-grade lesions cannot be excluded ● LSIL: Low-grade squamous intraepithelial lesion ○ Cellular changes consistent with CIN I ● HSIL: High-grade squamous intraepithelial lesion
33
Biopsied lesions of the cervix are classified with Cervical Intraepithelial Neoplasia (CIN) and include:
● CIN I: Disordered grown of the lower third of the epithelial lining ○ Mild Dysplasia – 60% resolve on their own ● CIN II: Abnormal maturation of the lower 2/3 of the lining. ○ Moderate Dysplasia ● CIN III: Involves more than 2/3 of the epithelial thickness ○ Severe Dysplasia ● Cancer in Situ (CIS): Involves the full thickness of the epithelium
34
A biopsy must be obtained to officially diagnose ______
CIN II or CIN III (cervical cancer)
35
Which strain of HPV is found in 50-70% of cervical cancers?
HPV-16
36
Cervical Cancer Risk factors
● Smoking increases risk of cervical cancer by 2-4x ● Immunosuppression ● HIV infections ● Hx of STIs ● High parity ● Oral contraceptive use
37
Cervical Cancer S/S
● Usually no signs or symptoms with CIN ● Abnormal vaginal bleeding ● Post-coital bleeding ● Blood stained discharge ● Pelvic pain (often unilateral)
38
Cervical Cancer PE
● Normal appearing cervix ● Enlarged, irregular, and/or firm cervix ● Friable, bleeding, or cauliflower-like cervix ● Cervical ulceration ● Cervical necrosis ● Loss of cervical mobility
39
Cervical Cancer diagnosis
● HPV testing ● Schiller test (staining with “Lugol’s solution” or toluidine blue) ● Colposcopy ○ Biopsy ■ Endocervical sampling ■ Conization
40
Cervical Cancer types
● HPV ● HSIL/CIN II/CIN III ● Squamous Cell ○ Adenocarcinoma in situ (ACIS) ○ Adenocarcinoma
41
Cervical Cancer staging
● CT scan / MRI ● Cystoscopy or proctoscopy
42
Cervical Cancer Treatment
● Expectant management ○ CIN I with cytology of low grade lesion (ASCUS or LSIL) ● Treatment ○ CIN I with cytology of high grade lesion (ASCH, HSIL, or AGC-NOS) ○ CIN II/CIN III Cryotherapy, laser ablation, conization, superficial or deep excision by the loop electrosurgical excision procedure (LEEP), deeper excision, hysterectomy, post-op radiation and chemotherapy
43
Vaginal/Vulvar Cancers S/S
Vaginal ● Most often asymptomatic, found incidentally on routine pelvic exam ● Postmenopausal vaginal bleeding and/or postcoital bleeding Vulvar ● 50% vulvar pruritus and/or a vulvar mass ● 20% asymptomatic, found incidentally on routine pelvic exam ● Bleeding or vulvar pain
44
Vaginal/Vulvar Cancers diagnosis
● A complete history and physical/pelvic exam ● Cervical cytologic examination, Endometrial biopsy, Colposcopy ● Biopsy
45
Vaginal/Vulvar Cancers staging
CT/MRI chest/ab/pelvis
46
Vaginal/Vulvar Cancers treatment
Vaginal Cancer ● Stage 1 – Surgery (hysterectomy with possible lymph nodes) ● Stage 2+ – Radiation Vulvar Cancer ● Surgery (with possible lymph node resection) ○ Postoperative radiation and possibly chemotherapy
47
Cancer Predisposition Syndrome
○ Mutated allele from one parent (not sufficient to initiate a tumor) and a normal allele from the other parent. If the normal allele develops the mutation, tumorigenesis can be initiated ○ Increased risk of cancer, possibly multiple types, at an earlier age ○ Over 100 hereditary cancers exist ○ Rare ○ Predominantly autosomal dominant
48
Hereditary cancers are inherited in what pattern?
Predominantly autosomal dominant
49
Who to Test for hereditary cancers based on personal history?
● Personal Hx of breast, ovarian, pancreatic or metastatic prostate cancer (especially if under 45 years old) ● Personal Hx of colon or uterine cancer under 50 years old ● Personal Hx of 2 or more cancers
50
Who to Test for hereditary cancers based on family history?
Ashkenazi Jewish ancestry ● Early breast or colon cancers (<49 years old) ● Any ovarian, pancreatic, metastatic prostate, male breast cancer, endometrial/uterine, rectal, or stomach cancer ● Known hereditary cancer in the family ● 2 Dx of breast or colon cancer in a single first degree relative (any age) ● 3 or more breast cancers in relatives on same side of the family 0 Early breast or colon cancers (<49 years old) 1 Ovarian, pancreatic, metastatic prostate, male breast cancer, endometrial/uterine, rectal, or stomach cancer 1 Known hereditary cancer in the family 2 Dx of breast or colon cancer in a single first degree relative (any age) 3 or more breast cancers in relatives on same side of the family
51
Chemoprevention for cervical cancer
HPV vaccine
52
Chemoprevention for breast cancer
○ Tamoxifen and Raloxifene ● Tamoxifen: Risk must outweigh benefit due to slight higher risk of endometrial cancers ■ Raloxifene – slightly less effective, but had lower incidence of thromboembolic events and endometrial cancer
53
Who should get Prophylactic Surgery for breast cancer?
● BRCA-1 and BRCA-2 ○ High risk of breast and ovarian cancer ○ Prophylactic bilateral mastectomy ○ Prophylactic salpingo-oophorectomy
54
Tyrer-Cuzick Score
A score/percentage is calculated to identify the patient’s “10 year risk” and “lifetime risk” of breast cancer This risk score is calculated based on several characteristics. ● Hormonal Hx (age menses, age with first child born, age of menopause, use of HRT ● Height, weight, past history dense breast tissue on mammogram or breast biopsy ● Pt’s family history of breast and ovarian cancer for 2 generations and presence or absence of BRCA1 or BRCA2 mutations
55
If lifetime risk is greater than ____%, qualifies for increased screenings, including breast MRI and mammogram annually (additional provider based exams and other strategies may be done based on risk)
20

Womens Health Exam 3 (6 decks)

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