Sex cord–gonadal stromal tumour

Group of tumors derived from ovarian and testicular stromal cells

Sex cord–gonadal stromal tumour
Synonyms	Sex cord–stromal tumour, Sex cord-stromal neoplasm
Pronounce
Field	N/A
Symptoms	Pelvic pain, abdominal mass, abnormal uterine bleeding, hormonal imbalance
Complications	Hormonal disorders, infertility, metastasis (rarely)
Onset	Typically adulthood; rarely in childhood
Duration	Chronic, varies widely
Types	Granulosa cell tumour, Sertoli–Leydig cell tumour, Thecoma, Fibroma, Steroid cell tumour
Causes	Unknown; genetic and hormonal factors may contribute
Risks	Female sex, certain genetic syndromes (Peutz–Jeghers syndrome)
Diagnosis	Ultrasound, MRI, CT scan, Histopathology, Immunohistochemistry
Differential diagnosis	Germ cell tumour, Epithelial ovarian cancer, Leiomyoma, Metastatic carcinoma
Prevention	None specifically known
Treatment	Surgical removal (oophorectomy, orchiectomy), chemotherapy for advanced cases
Medication	Chemotherapeutic agents (for advanced disease), hormonal therapy (occasionally)
Prognosis	Generally favorable; depends on subtype, stage, and treatment
Frequency	Rare, approximately 5% of ovarian tumors; even rarer in testes
Deaths	Rare, mostly from metastatic disease

Granulosa cell tumour, H&E staining

Sex cord–gonadal stromal tumours, also known as sex cord–stromal tumours, are a group of rare tumours originating from the stromal component of the gonads, specifically from cells that support and surround germ cells in the ovaries and testes. These cells include granulosa cells, thecal cells, Leydig cells, Sertoli cells, and ovarian or testicular fibrocytes.

Classification and types

Sex cord–gonadal stromal tumours are categorized based on the cell types involved and their histopathological appearance:

• Granulosa cell tumour (most common)
  • Adult-type granulosa cell tumour
  • Juvenile-type granulosa cell tumour

• Sertoli–Leydig cell tumour
  • Sertoli cell tumour
  • Leydig cell tumour
  • Sertoli–Leydig mixed tumour

• Thecoma
  • Typically benign, estrogen-producing ovarian tumour

• Fibroma
  • Benign tumour composed primarily of fibroblastic cells; hormonally inactive.

• Steroid cell tumour
  • Rare ovarian tumour associated with androgen or estrogen production.

Signs and symptoms

Symptoms depend largely on tumour type, location, size, and hormone production. Common clinical presentations include:

• Hormonal symptoms:
  • Excess estrogen production leading to abnormal uterine bleeding, menstrual irregularities, precocious puberty, or post-menopausal bleeding
  • Excess androgen production causing hirsutism, acne, deepened voice, or virilization

• Non-specific symptoms:
  • Pelvic pain
  • Abdominal discomfort or bloating
  • Palpable mass in lower abdomen or pelvis

Causes and risk factors

The exact cause of sex cord–gonadal stromal tumours is not clearly understood. Potential contributing factors include:

• Genetic predisposition (e.g., Peutz–Jeghers syndrome, DICER1 syndrome)
• Hormonal imbalances or prolonged hormonal stimulation
• Certain hereditary tumour syndromes

Diagnosis

Diagnosis of sex cord–gonadal stromal tumours typically involves:

• Clinical evaluation
  • History taking and physical examination, noting hormonal symptoms or palpable masses.

• Imaging studies
  • Pelvic ultrasound – first-line imaging modality
  • MRI or CT scan – useful in evaluating tumour size, location, and involvement of adjacent structures.

• Laboratory tests
  • Hormonal assays – estrogen, testosterone, inhibin A/B, Anti-Müllerian hormone (AMH)

• Histopathology and immunohistochemistry
  • Confirmatory test by surgical biopsy or excision
  • Tumours show specific histological features, typically positive for inhibin and calretinin.

Differential diagnosis

Conditions that may appear similar to sex cord–gonadal stromal tumours include:

• Germ cell tumours (e.g., dysgerminoma, seminoma)
• Epithelial ovarian cancer
• Leiomyoma (uterine fibroids)
• Metastatic carcinoma from other primary tumours

Treatment

The primary treatment for sex cord–gonadal stromal tumours is surgical removal:

• Surgery
  • Ovarian tumours – usually managed by unilateral or bilateral oophorectomy; total hysterectomy and bilateral salpingo-oophorectomy may be considered in older patients.
  • Testicular tumours – treated by radical orchiectomy.

• Chemotherapy
  • Reserved for advanced, metastatic, or recurrent tumours
  • Agents commonly used include bleomycin, etoposide, cisplatin, and carboplatin-based regimens.

• Hormonal therapy
  • Occasionally beneficial, especially for granulosa cell tumours with hormone receptor positivity.

Prognosis

The prognosis of sex cord–gonadal stromal tumours is generally favorable but varies significantly by type and stage:

• Granulosa cell tumours
  • Slow-growing, late recurrence possible; regular follow-up is recommended.
  • Prognosis is generally good; 10-year survival rates exceed 80%.

• Sertoli–Leydig cell tumours
  • Good prognosis with early-stage diagnosis and prompt surgical removal; metastatic cases have lower survival.

• Fibromas and thecomas
  • Benign tumours with excellent prognosis upon surgical removal.

Epidemiology

Sex cord–gonadal stromal tumours are rare:

• Approximately 5% of all ovarian tumours.
• Considerably less common in males; account for <5% of testicular tumours.
• More frequently diagnosed in adults; granulosa cell tumours can occasionally affect children.

See also

• Ovarian cancer
• Testicular cancer
• Germ cell tumour
• Endocrine tumour

External links

• Ovarian cancer treatment (PDQ®) – National Cancer Institute
• Orphanet – Sex cord-stromal tumour