SM_217b: Diseases of the Uterus Flashcards
____ is the most common pelvic tumor in women
Leiomyoma is the most common pelvic tumor in women
Risk factors for leiomyoma are ____, ____, and ____
Risk factors for leiomyoma are age, early menarche (< 10 years old), and familial genetic predisposition
- Somatic mutations MED12, HMGA1, HMGA2
- Inherited mutations in fumarate hydratase
- Diet, obesity, alcohol intake
- Parity decreases risk
Leiomyoma pathophysiology involves ____ and ____
Leiomyoma pathophysiology involves transformation of normal mycoytes into abnormal myocytes and growth of abnormal myocytes into clinically apparent tumors
Describe MED12 mutations causing leiomyoma
MED12 mutations causing leiomyoma
- 70% have a heterozygous mutation of MED12 on chromosome X
- Encodes subunit of the mediator complex
- Essential for regulation of transcription initiation and elongation
- MED12 binds directly to b-catenin and regulates canonical WNT signaling pathway
Leiomyoma presents with ____, ____, ____, ____, and ____
Leiomyoma presents with heavy or prolonged menstrual bleeding, bulk / pressure symptoms, pain, infertility, and recurrent pregnancy loss
Describe treatment of leiomyoma
Leiomyoma treatment
- Medical: OCPs, GnRH agonist (30% decrease in size), transexamic acid
- Surgical (definitive): hysterectomy
- Surgical (fertility preservation): myomyectomy
- Surgical (uterine preservation): uterine artery embolization, MRI guided focused ultrasound
Endometriosis is ____
Endometriosis is ectopic presence of endometrioid glands and stroma outside of the endometrial cavity
- 5-10% of reproductive aged women
- 25-50% of women with infertility
- 70% of women with chronic pelvic pain
Describe risk factors for endometriosis
Endometriosis risk factors
- Increased risk: early menarche, nulliparity, long menses, and Mullerian anomalies
- Decreased risk: increased parity, late menarche (age > 14)
Describe theories of endometriosis
Endometriosis theories
- Retrograde menstruation: Sampson’s theory of direct implantation, clinical and experimental support but endometriosis in premenarchal girls or extrapelvic sites is not explained
- Coelomic metaplasia: Meyer’s theory, metaplasia of cells lining the visceral and abdominal peritoneum, may explain endometriosis in unusual locations
Describe parallels between endometriosis and cancer
Parallels between endometriosis and cancer
- Exome sequencing of non-malignant deep endometriosis lesions: somatic mutations in 79% of lesions, mutations in cancer driver genes in 26^ of lesions (ARID1A, PTEN, PIK3CA, beta-catenin)
- Independent growth
- Metastasis: local and distant implants
- Angiogenesis
- Transformation: mutations
Endometriosis ___ premalignant lesion
Endometriosis is NOT a premalignant lesion
- Very low risk of malignant transformation
Clinical presentation of endometriosis involves ____, ____, ____, ____, ____, and ____
Endometriosis clinical presentation
- Dysmenorrhea: primary, dull / crampy pain 1-2 days and during menses, may continue for several days
- Dyspareunia: infiltration of uterosacral ligaments
- Pelvic pain: 70-80% of patients with chronic pelvic pain
Endometrioma (ovarian mass) - Infertility: adhesions, inflammatory milieu around ovaries and fallopian tubes
- GI / GU symptoms: cyclical hematochezia or dyschezia, cyclical hematuria or dysuria
____ has highest sensitivity and specificity for detecting ovarian endometriomas
Transvaginal ultrasonography has highest sensitivity and specificity for detecting ovarian endometriomas
Endometriomas appear as ____, ____, and ____ on transvaginal ultrasonography
Endometriomas appear as unilocular cyst, homogeneous low level echogenicity, and poor or mild vascular flow on transvaginal ultrasonography
____ has the highest diagnostic accuracy for deep infiltrating endometriosis
Pelvic MRI has the highest diagnostic accuracy for deep infiltrating endometriosis
- Involvement of uterosacral ligament, bladder, or vaginal or rectosigmoid wall
- Good study for surgical resection planning
Describe treatment of endometriosis
Endometriosis treatment
- Analgesia: NSAIDs, narcotics
- Hormonal manipulation of menstrual cycle: OCPs (cyclical or continuous), progestins only, GnRH agonists
- Surgical: ablation of implants, removal of endometriomas
- Definitive: hysterectomy / BSO
Adenomyosis is ____
Adenomyosis is ectopic presence of endometrioid glands and stroma within myometrium
- Basalis endometrium penetrates into hyperplastic myometrial fibers, basal layer does not undergo typical cyclic changes with menstrual cycle
- Prevalence of 20%
Adenomyosis presents with ____ and ____
Adenomyosis presents with menorrhagia and dysmenorrhea
Describe treatment of adenomyosis
Adenomyosis treatment
- Hormonal manipulation of menstrual cycle: OCPs, progestins only, LNG-IUD
- Surgical: hysterectomy
Endometrial polyps are ___
Endometrial polyps are focal, accentuated benign hyperplastic growths with a narrow base into the endometrium
- Prevalence: 6-25%
Endometrial polyps most often present ____ but can also present with ____ and ____
Endometrial polyps most often present asymptomatically but can also present with irregular vaginal bleeding and postmenopausal bleeding
- Malignancy: 5% more likely in postmenopausal women
Risk factors for endometrial polyps are ____, ____, ____, and ____
Risk factors for endometrial polyps are obesity, metabolic syndrome, post-menopausal HRT, and tamoxifen
Endometrial polyps are treated with ____
Endometrial polyps are treated with surgery (hysteroscopic polypectomy or hysterectomy)
____ is the most common gynecological malignancy and consists of ____ and ____
Endometrial cancer is the most common gynecological malignancy and consists of Type I and Type II
____ endometrial cancer has a higher mortality rate
Type II endometrial cancer has a higher mortality rate
____ is the main risk factor for type I endometrial cancer
Excess of circulating estrogen levels is the main risk factor for type I endometrial cancer
- Endogenous sources: obesity, estrogen secreting tumor (granulosa cell ovarian cancer), anovulation (PCOS)
- Exogenous sources: unopposed estrogen replacement
Endometrial cancer presents with ____
Endometrial cancer presents with abnormal vaginal bleeding
- After menopause, between periods, after sex
- Diagnosed with endometrial biopsy or D&C
Endometrial cancer treatment is ____
Endometrial cancer treatment is hysterectomy with bilateral salpingo-oophorectomy and lymph node assessment
- Radiation and/or chemo may be needed
