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Difficulty: MediumGynecologic Oncology

Match each clinical presentation of a gynecologic malignancy with its most likely specific diagnosis.

  • 19-year-old woman with a 10-cm solid ovarian mass and markedly elevated serum alpha-fetoprotein (AFP)Yolk sac (endodermal sinus) tumor
  • 27-year-old woman with a unilateral solid adnexal mass, rapidly progressive hirsutism, and temporal baldingSertoli-Leydig cell tumor
  • 38-year-old woman with heavy, irregular menstrual bleeding, a thickened endometrium, and a known MLH1 gene mutationEndometrial adenocarcinoma
  • 68-year-old woman with a firm, unifocal vulvar ulceration and a long-standing history of lichen sclerosusVulvar squamous cell carcinoma

Answer

19-year-old with elevated AFP matches Yolk sac tumor; 27-year-old with virilization matches Sertoli-Leydig cell tumor; 38-year-old with MLH1 mutation matches Endometrial adenocarcinoma; 68-year-old with lichen sclerosus matches Vulvar squamous cell carcinoma.
Each clinical presentation contains classic pathognomonic features for specific gynecologic malignancies: AFP for yolk sac tumors, androgens for Sertoli-Leydig tumors, Lynch syndrome (MLH1) for endometrial cancer, and lichen sclerosus for vulvar squamous cell carcinoma.

Step-by-Step Solution

1
Analyze the tumor markers and demographics for the first patient.
The combination of a young age (19 years) and elevated AFP points to a germ cell tumor, specifically a yolk sac tumor.
Different ovarian neoplasms secrete distinct markers; AFP is pathognomonic for yolk sac tumors in this context.
2
Evaluate the endocrine manifestations of the second patient.
Rapid virilization (hirsutism, balding) indicates an androgen-secreting tumor, aligning with a Sertoli-Leydig cell tumor.
Sex cord-stromal tumors can be hormonally active; Sertoli-Leydig tumors classically produce testosterone.
3
Assess the genetic risk factors for the third patient.
An MLH1 mutation confirms Lynch syndrome (HNPCC), which strongly predisposes the patient to endometrial and colorectal cancers.
Recognizing hereditary cancer syndromes is critical for identifying the primary malignancy in a patient with abnormal bleeding.
4
Review the dermatologic history for the fourth patient.
A history of lichen sclerosus with a new unifocal ulceration in an older woman is highly suspicious for vulvar squamous cell carcinoma.
Chronic inflammatory dermatoses of the vulva carry a malignant transformation risk.

Key Concept

Gynecologic Oncology: Clinical and genetic correlates of female reproductive tract malignancies.
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Topics

Gynecologic Oncology

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