A case of mediastinal germ cell tumor associated with Down syndrome

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  • ダウン症に合併した縦隔原発型胚細胞腫瘍の一例

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Abstract

We report one case of mediastinal germ cell tumor with Down syndrome. The case was in his late twenties. An abnormal shadow was recognized on the chest X-ray film during follow-up study of Down syndrome. The tumor noted in the anterior mediastinum on chest CT was diagnosed as a germ cell tumor by CT-guided needle biopsy. After two courses of preoperative chemotherapy (BEP), an extended thymectomy combined with resection of the pericardium was performed. The diagnosis of germ cell tumor consisted of both non-seminomatous and teratomatous components yielded histopathologically. Most of the tumor was reduced by chemotherapy, but some viable components of mature teratoma were noted. The patient is currently alive and well without any relapse four years since initial treatment. Several cases of mediastinal germ cell tumor accompanied by Klinefelter syndrome have been reported, but a tumor accompanied by Down syndrome could not be found in the literature.

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