SM_217b: Diseases of the Uterus

Question 1

____ is the most common pelvic tumor in women

Answer 1

Leiomyoma is the most common pelvic tumor in women

Question 2

Risk factors for leiomyoma are ____, ____, and ____

Answer 2

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

Question 3

Leiomyoma pathophysiology involves ____ and ____

Answer 3

Leiomyoma pathophysiology involves transformation of normal mycoytes into abnormal myocytes and growth of abnormal myocytes into clinically apparent tumors

Question 4

Describe MED12 mutations causing leiomyoma

Answer 4

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

Question 5

Leiomyoma presents with ____, ____, ____, ____, and ____

Answer 5

Leiomyoma presents with heavy or prolonged menstrual bleeding, bulk / pressure symptoms, pain, infertility, and recurrent pregnancy loss

Question 6

Describe treatment of leiomyoma

Answer 6

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

Question 7

Endometriosis is ____

Answer 7

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

Question 8

Describe risk factors for endometriosis

Answer 8

Endometriosis risk factors

• Increased risk: early menarche, nulliparity, long menses, and Mullerian anomalies
• Decreased risk: increased parity, late menarche (age > 14)

Question 9

Describe theories of endometriosis

Answer 9

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

Question 10

Describe parallels between endometriosis and cancer

Answer 10

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

Question 11

Endometriosis ___ premalignant lesion

Answer 11

Endometriosis is NOT a premalignant lesion

• Very low risk of malignant transformation

Question 12

Clinical presentation of endometriosis involves ____, ____, ____, ____, ____, and ____

Answer 12

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

Question 13

____ has highest sensitivity and specificity for detecting ovarian endometriomas

Answer 13

Transvaginal ultrasonography has highest sensitivity and specificity for detecting ovarian endometriomas

Question 14

Endometriomas appear as ____, ____, and ____ on transvaginal ultrasonography

Answer 14

Endometriomas appear as unilocular cyst, homogeneous low level echogenicity, and poor or mild vascular flow on transvaginal ultrasonography

Question 15

____ has the highest diagnostic accuracy for deep infiltrating endometriosis

Answer 15

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

Question 16

Describe treatment of endometriosis

Answer 16

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

Question 17

Adenomyosis is ____

Answer 17

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%

Question 18

Adenomyosis presents with ____ and ____

Answer 18

Adenomyosis presents with menorrhagia and dysmenorrhea

Question 19

Describe treatment of adenomyosis

Answer 19

Adenomyosis treatment

• Hormonal manipulation of menstrual cycle: OCPs, progestins only, LNG-IUD
• Surgical: hysterectomy

Question 21

Endometrial polyps are ___

Answer 21

Endometrial polyps are focal, accentuated benign hyperplastic growths with a narrow base into the endometrium

• Prevalence: 6-25%

Question 22

Endometrial polyps most often present ____ but can also present with ____ and ____

Answer 22

Endometrial polyps most often present asymptomatically but can also present with irregular vaginal bleeding and postmenopausal bleeding

• Malignancy: 5% more likely in postmenopausal women

Question 23

Risk factors for endometrial polyps are ____, ____, ____, and ____

Answer 23

Risk factors for endometrial polyps are obesity, metabolic syndrome, post-menopausal HRT, and tamoxifen

Question 24

Endometrial polyps are treated with ____

Answer 24

Endometrial polyps are treated with surgery (hysteroscopic polypectomy or hysterectomy)

Question 25

____ is the most common gynecological malignancy and consists of ____ and ____

Answer 25

Endometrial cancer is the most common gynecological malignancy and consists of Type I and Type II

Question 26

____ endometrial cancer has a higher mortality rate

Answer 26

Type II endometrial cancer has a higher mortality rate

Question 27

____ is the main risk factor for type I endometrial cancer

Answer 27

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

Question 29

Endometrial cancer presents with ____

Answer 29

Endometrial cancer presents with abnormal vaginal bleeding

• After menopause, between periods, after sex
• Diagnosed with endometrial biopsy or D&C

Question 30

Endometrial cancer treatment is ____

Answer 30

Endometrial cancer treatment is hysterectomy with bilateral salpingo-oophorectomy and lymph node assessment

• Radiation and/or chemo may be needed