PRIMARY MEDIASTINAL GERM CELL TUMOR ARISING IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1

Kashima Soki, Saito Mitsuru, Tsuchiya Norihiko, Saito Hajime, Nanjo Hiroshi, Numakura Kazuyuki, Tsuruta Hiroshi, Akihama Susumu, Inoue Takamitsu, Narita Shintaro, Minamiya Yoshihiro, Satoh Shigeru, Habuchi Tomonori

doi:10.5980/jpnjurol.106.178

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神経線維腫症1型に合併した縦隔原発胚細胞腫の1例
症例報告神経線維腫症1型に合併した縦隔原発胚細胞腫の1例
ショウレイホウコクシンケイセンイシュショウ 1ガタニガッペイシタジュウカクゲンパツハイサイボウシュノ 1レイ

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Abstract

<p>Neurofibromatosis type 1 (NF1) is a distinct genetic disorder due to the NF1 gene mutation which induces the aberrant activation of the RAS-signaling. Because RAS-related proteins function as oncogenic factors, NF1 patients frequently develop malignant tumors, especially of neural crest origin, such as peripheral nerve sheath. In addition, malignant tumors of the pancreas, colorectum, and lung have been reported to frequently arise in NF1 patients. However, the association between germ cell tumor and NF1 has not been clarified yet. A 29-year-old male with dyspnea was referred to our hospital because of the large mass in the anterior mediastinum and cervical lymph node swelling. The diagnosis was extragonadal germ cell tumor with cervical lymph node metastasis, and complete remission was obtained by multidisciplinary treatment consisted of combination chemotherapy and surgical resection. To our acknowledgement, this is the first case of extragonadal germ cell tumor in NF1 patients. We discuss the relevance between activation of the RAS-signaling and the development of germ cell tumor.</p>

Journal

The Japanese Journal of Urology

The Japanese Journal of Urology 106 (3), 178-184, 2015

THE JAPANESE UROLOGICAL ASSOCIATION

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