A Case of Cowden Syndrome that Presented with a Thyroid Tumor Extending into the Mediastinum

DOI Web Site Web Site 10 References
  • Noda Minori
    Department of Otolaryngology-Head and Neck Surgery, Iwakuni Clinical Center
  • Kimura Nobuhiko
    Department of Otolaryngology-Head and Neck Surgery, Iwakuni Clinical Center
  • Fujino Yasushi
    Department of Otolaryngology-Head and Neck Surgery, Iwakuni Clinical Center
  • Ando Mizuo
    Department of Otolaryngology-Head and Neck Surgery, Okayama University

Bibliographic Information

Other Title
  • 縦隔内進展した甲状腺腫瘍を契機に診断された Cowden 症候群の症例
  • ジュウカク ナイ シンテン シタ コウジョウセン シュヨウ オ ケイキ ニ シンダン サレタ Cowden ショウコウグン ノ ショウレイ

Search this article

Abstract

<p>　Cowden syndrome is an autosomal-dominant hereditary disease caused mainly by mutation of the PTEN gene, and the mutation is recognized in about 80% of patients. The most common feature of Cowden syndrome is the presence of hamartomas, associated with an increased risk of development of malignant tumors in the thyroid gland and breast. In addition, gastrointestinal polyposis is reported in many patients. Because of the wide variety of lesions, there are few reports from otolaryngologists. We present the case of 46-year-old woman who visited our hospital with a thyroid tumor that was found to extend into the mediastinum. There were characteristic skin lesions, possibly lipoma, and multiple polyps in the gastrointestinal tract. Postoperative histopathology after thyroidectomy revealed the diagnosis of papillary thyroid cancer, and the patient was diagnosed as having Cowden syndrome. We later learned that the patient's brother had a similar diagnosis. Comprehensive follow-up is required to detect malignant tumors early, although the patient has no evidence of cancer now.</p>

Journal

References(10)*help

See more

Keywords

Report a problem

Back to top