Reproductive Pathology Practice Questions

Q: What is the most common gene mutation in uterine fibroids?

MED12. **Explanation:** Uterine fibroids (leiomyomas) are the most common benign tumors of the female reproductive tract. Their pathogenesis is driven by genetic mutations, hormonal influences (estrogen and progesterone), and growth factors. **1. Why MED12 is Correct:** The **MED12 (Mediator Complex Subunit 12)** gene mutation is the most frequent genetic alteration found in uterine fibroids, occurring in approximately **70%** of cases. This mutation affects the Mediator complex, which regulates the transcription of RNA polymerase II, leading to dysregulated cell growth and extracellular matrix deposition in the myometrium. **2. Analysis of Incorrect Options:** * **COL4A5-A6:** Rearrangements involving these genes (located on chromosome Xq22) are associated with **Diffuse Leiomyomatosis**, a rare condition characterized by extensive smooth muscle proliferation in the uterus, esophagus, and tracheobronchial tree. * **FH (Fumarate Hydratase):** Mutations in the FH gene are associated with **Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)** syndrome. While these patients develop multiple uterine fibroids, it is a specific syndromic association rather than the most common mutation in sporadic fibroids. **3. High-Yield Clinical Pearls for NEET-PG:** * **Most common cytogenetic abnormality:** Translocation between chromosomes 12 and 14 [t(12;14)]. * **HMGA2 Overexpression:** Often seen in fibroids with t(12;14) mutations. * **Risk Factors:** Early menarche, nulliparity, obesity, and African-American race (highest prevalence). * **Protective Factors:** Multiparity, late menarche, and smoking (due to decreased estrogen levels). * **Degenerations:** Hyaline degeneration is the most common; **Red degeneration** (carneous) is most common during pregnancy due to venous thrombosis.

Q: Streak gonads are seen in which of the following conditions?

Turner syndrome. **Explanation:** **1. Why Turner Syndrome is Correct:** Turner Syndrome (45, XO) is the most common cause of primary amenorrhea and is characterized by **gonadal dysgenesis**. In a normal fetus, two X chromosomes are required for the maintenance of primordial germ cells. In 45, XO individuals, the germ cells undergo accelerated attrition (apoptosis) during fetal life. By birth or shortly after, the ovaries are replaced by non-functional, fibrous tissue devoid of follicles, known as **"Streak Gonads."** Because these gonads cannot produce estrogen, patients present with infantile secondary sexual characteristics and elevated gonadotropins (Hypergonadotropic Hypogonadism). **2. Why the Other Options are Incorrect:** * **Klinefelter’s Syndrome (47, XXY):** This affects males. While it involves testicular dysgenesis (small, firm testes with hyalinized tubules), they are not "streak" gonads. * **Patau’s Syndrome (Trisomy 13) & Down’s Syndrome (Trisomy 21):** These are autosomal trisomies. While they involve multiple structural anomalies and intellectual disabilities, they are not typically associated with streak gonads or primary gonadal dysgenesis. **3. High-Yield Clinical Pearls for NEET-PG:** * **Karyotype:** 45, XO is the most common, but mosaicism (e.g., 45,XO/46,XX) can result in some follicular development and even pregnancy. * **Associated Features:** Short stature (most common feature), webbed neck (pterygium colli), shield chest (widely spaced nipples), and coarctation of the aorta. * **Renal Anomaly:** Horseshoe kidney is frequently associated. * **Management:** Growth Hormone (for height) and cyclic Estrogen/Progesterone (for secondary sexual characteristics and bone health). * **Note:** Streak gonads are also seen in **Swyer Syndrome** (46, XY pure gonadal dysgenesis), but there is a high risk of gonadoblastoma in those cases due to the presence of the Y chromosome.

Q: Granulomatous mastitis occurs in all of the following conditions EXCEPT:

Breast feeding. **Explanation:** Granulomatous mastitis is a rare inflammatory condition of the breast characterized by the formation of non-caseating granulomas. The diagnosis is reached by excluding common causes of granulomatous inflammation. **Why Breastfeeding is the Correct Answer:** Breastfeeding is typically associated with **acute pyogenic mastitis** (usually caused by *Staphylococcus aureus*), which presents with abscess formation and acute suppuration, not granulomatous inflammation. In fact, **Idiopathic Granulomatous Mastitis (IGM)**—the most common subtype—characteristically occurs in parous women but is specifically associated with the **post-lactational period** (usually within 2–5 years after giving birth), rather than the period of active breastfeeding itself. **Analysis of Other Options:** * **Bacterial Infection:** Specific infections like **Tuberculosis** (*Mycobacterium tuberculosis*) are a classic cause of granulomatous mastitis, especially in endemic regions like India. It presents with "cold abscesses" and sinus tracts. * **Fungal Infection:** Rare fungal infections (e.g., Histoplasmosis, Actinomycosis) can trigger a granulomatous immune response in the breast tissue. * **Diabetes:** Diabetes mellitus is associated with **Diabetic Mastopathy**, a condition characterized by lymphocytic mastitis and fibrosis which can histologically mimic or coexist with granulomatous patterns. **NEET-PG High-Yield Pearls:** * **Idiopathic Granulomatous Mastitis (IGM):** Most common in young, parous women. It can mimic breast cancer clinically and radiologically (Peau d'orange, nipple retraction). * **Diagnosis:** Requires a **core needle biopsy** to visualize granulomas and special stains (AFB, PAS) to rule out TB and fungi. * **Treatment:** IGM is primarily treated with **corticosteroids** or immunosuppressants (Methotrexate); surgery is reserved for refractory cases due to high recurrence rates.

Question 1

What is the most common gene mutation in uterine fibroids?

Accepted Answer

MED12

Answer

COL4A5-A6

Answer

FH

Answer

None of the above

Question 2

Streak gonads are seen in which of the following conditions?

Accepted Answer

Turner syndrome

Answer

Klinefelter's syndrome

Answer

Patau's syndrome

Answer

Down's syndrome

Question 3

Granulomatous mastitis occurs in all of the following conditions EXCEPT:

Accepted Answer

Breast feeding

Answer

Bacterial infection

Answer

Fungal infection

Answer

Diabetes

Question 4

A 35-year-old lady presents with a lump in the upper outer quadrant of the breast. Histopathology shows cells in pools of mucin and faint nuclei. What is the most likely diagnosis?

Accepted Answer

Colloid carcinoma

Answer

Adenocarcinoma

Answer

Medullary carcinoma

Answer

Lobular carcinoma

Question 5

A 24-year-old woman is noted to have atypical cells on a Pap smear that are consistent with infection by human papillomavirus (HPV). Which of the following describes the characteristic cytopathic effect caused by infection with HPV?

Accepted Answer

Koilocytosis

Answer

Hyperkeratosis

Answer

Parakeratosis

Answer

Apoptosis

Question 6

What is the immunohistochemical marker used to label basal cells in suspected prostate carcinoma?

Accepted Answer

Alpha-Methylacyl-coenzyme Racemase

Answer

Alpha Fetoprotein

Answer

Annexin

Answer

AgNOR

Question 7

An 80-year-old male presents with a testicular tumor. What is the most probable diagnosis?

Accepted Answer

Lymphoma

Answer

Seminoma

Answer

Teratoma

Answer

Lipoma

Question 8

Enlarged and pale placenta is typically due to infection by which of the following?

Accepted Answer

Syphilis

Answer

Parvovirus

Answer

Measles

Answer

Toxoplasmosis

Question 9

In which of the following carcinomas of the breast does loss of E-cadherin play a vital role in pathogenesis?

Accepted Answer

Lobular carcinoma

Answer

Paget's disease

Answer

Ductal carcinoma

Answer

Medullary carcinoma

Question 10

Histological features of leiomyoma are all except?

Accepted Answer

Less cellular than surrounding normal myometrium

Answer

Well-circumscribed tumor

Answer

Cells arranged in interlacing fascicles at right angles

Answer

Spindle-shaped smooth muscle cells with eosinophilic cytoplasm

Reproductive Pathology — MCQs

Reproductive Pathology — MCQs

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