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Background <p>Cowden syndrome is a rare autosomal dominant disorder caused by mutations in the PTEN tumor suppressor gene. It predisposes affected individuals to multiple benign and malignant tumors, particularly of the breast, endometrium, and thyroid. Clinical diagnosis remains vital in low-resource settings where genetic testing is often unavailable.</p> Case <p>A 35-year-old nulligravida presented with abnormal uterine bleeding and was found to have FIGO grade 1 endometrioid adenocarcinoma. She had several physical anomalies including short stature (130&#xa0;cm), macrocephaly (60&#xa0;cm head circumference), kyphoscoliosis, brachydactyly, and multiple lipomas. Breast imaging revealed bilateral fibroadenomas. There was no family history of cancer. Based on clinical criteria, Cowden syndrome was suspected. PTEN testing was advised but deferred due to cost. She underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy and is currently under multidisciplinary surveillance.</p> Conclusion <p>Cowden syndrome should be clinically suspected in young women with endometrial carcinoma and associated benign tumors or congenital anomalies. A high index of suspicion is essential, especially when molecular testing is not feasible. Early recognition can facilitate timely surveillance and risk-reduction strategies.</p>

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Cowden Syndrome Suspected in a Young Woman with Endometrial Carcinoma and Bilateral Breast Fibroadenomas: A Diagnostic Dilemma in a Resource-Limited Setting

  • 期刊论文

  • 发表日期：

    2025年10月12日

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  • Meenakshi Thakur,
  • Meenakshi Verma,
  • Amit Gupta

摘要

Background

Cowden syndrome is a rare autosomal dominant disorder caused by mutations in the PTEN tumor suppressor gene. It predisposes affected individuals to multiple benign and malignant tumors, particularly of the breast, endometrium, and thyroid. Clinical diagnosis remains vital in low-resource settings where genetic testing is often unavailable.

Case

A 35-year-old nulligravida presented with abnormal uterine bleeding and was found to have FIGO grade 1 endometrioid adenocarcinoma. She had several physical anomalies including short stature (130 cm), macrocephaly (60 cm head circumference), kyphoscoliosis, brachydactyly, and multiple lipomas. Breast imaging revealed bilateral fibroadenomas. There was no family history of cancer. Based on clinical criteria, Cowden syndrome was suspected. PTEN testing was advised but deferred due to cost. She underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy and is currently under multidisciplinary surveillance.

Conclusion

Cowden syndrome should be clinically suspected in young women with endometrial carcinoma and associated benign tumors or congenital anomalies. A high index of suspicion is essential, especially when molecular testing is not feasible. Early recognition can facilitate timely surveillance and risk-reduction strategies.