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Purpose <p>Vaginal clear cell carcinoma (VCCC) is a rare malignancy historically associated with in utero diethylstilbestrol (DES) exposure. Sporadic, DES-independent cases are exceedingly uncommon, with no standardized treatment guidelines. This report highlights such a case and reviews the literature to evaluate clinical characteristics, treatment strategies, and fertility outcomes.</p> Methods <p>We describe a 29-year-old unmarried woman with no history of DES exposure who presented with prolonged vaginal bleeding. Imaging revealed a bulky posterior vaginal wall mass, confirmed on biopsy and immunohistochemistry as clear cell carcinoma. The tumor was unresponsive to neoadjuvant chemotherapy. Fertility preservation was undertaken via laparoscopic ovarian cryopreservation and transposition, followed by definitive chemoradiation. A literature review of 38 published cases of DESindependent VCCC was conducted to summarize patterns in clinical presentation, management, and reproductive outcomes.</p> Results <p>Our patient achieved complete clinical and pathological response and remains disease-free at two years. Among reviewed cases, the mean age at diagnosis was 33.5&#xa0;years, and 55% were nulliparous. Fertility preservation techniques were employed in 48% of women. Müllerian or renal anomalies were reported in 29%, and the upper vagina was the most common tumor site. Over 60% presented with early-stage disease. Chemoradiation was effective in achieving complete response in several advanced cases.</p> Conclusion <p>DES-independent VCCC represents a distinct clinical entity requiring early recognition and multidisciplinary management. Fertility preservation is feasible and should be considered where appropriate. Further studies are needed to establish standardized treatment protocols and long-term outcomes.</p>

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Vaginal Clear Cell Carcinoma Without Diethylstilbestrol Exposure: A Rare Case and Review of 38 Reported Cases

  • 期刊论文

  • 发表日期：

    2025年8月16日

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  • Saroj Rajan,
  • Ruchi Rathore,
  • Neena Malhotra,
  • D. N. Sharma,
  • Sachin Khurana,
  • Ekta Dhamija,
  • Sandeep Mathur,
  • Seema Singhal

摘要

Purpose

Vaginal clear cell carcinoma (VCCC) is a rare malignancy historically associated with in utero diethylstilbestrol (DES) exposure. Sporadic, DES-independent cases are exceedingly uncommon, with no standardized treatment guidelines. This report highlights such a case and reviews the literature to evaluate clinical characteristics, treatment strategies, and fertility outcomes.

Methods

We describe a 29-year-old unmarried woman with no history of DES exposure who presented with prolonged vaginal bleeding. Imaging revealed a bulky posterior vaginal wall mass, confirmed on biopsy and immunohistochemistry as clear cell carcinoma. The tumor was unresponsive to neoadjuvant chemotherapy. Fertility preservation was undertaken via laparoscopic ovarian cryopreservation and transposition, followed by definitive chemoradiation. A literature review of 38 published cases of DESindependent VCCC was conducted to summarize patterns in clinical presentation, management, and reproductive outcomes.

Results

Our patient achieved complete clinical and pathological response and remains disease-free at two years. Among reviewed cases, the mean age at diagnosis was 33.5 years, and 55% were nulliparous. Fertility preservation techniques were employed in 48% of women. Müllerian or renal anomalies were reported in 29%, and the upper vagina was the most common tumor site. Over 60% presented with early-stage disease. Chemoradiation was effective in achieving complete response in several advanced cases.

Conclusion

DES-independent VCCC represents a distinct clinical entity requiring early recognition and multidisciplinary management. Fertility preservation is feasible and should be considered where appropriate. Further studies are needed to establish standardized treatment protocols and long-term outcomes.