希少疾患の進歩
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概要

NUT midline carcinoma: Two case reports and review of the literature

Abazid N, Friemann J, Alfke H, Büttner R, Friedrichs N

NUT midline carcinoma is a rare epithelial cancer characterized by a simple karyotype with a single abnormality: the translocation t(15;19)(q14;p13.1). In this way it resembles fusion gene-driven leukemias, sarcomas, and a small subset of other carcinomas. These tumors occur throughout life and in most cases are accompanied by distant metastases at the time of diagnosis. There is so far no effective treatment for NUT midline carcinoma; therefore, the international, Web-based NMC Registry (www.nmcregistry.org) was recently established for this cancer. The registry provides access to treatment guidelines based on the experiences of oncologists, and gives patients the opportunity to participate in clinical trials. He were present two case reports, and a review of the definition, clinicopathologic features, genetics, pathogenesis, diagnostic criteria and therapeutic treatment of this aggressive tumor.