Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare, poorly differentiated carcinoma located at midline structures of the head, neck and mediastinum. Characterized by the translocation t(15;19)(q14;p13.1), which Results in a BRD4/NUT fusion protein, the carcinoma is diagnosed approximately once a year in Germany. With an average survival time of 9.5 months, the prognosis is usually infaust.
We report on a 54-year-old patient who came to an ENT clinic due to dysphonia. The laryngoscopy showed a tumor within the left vocal cord with unrestricted vocal cord mobility. In December 2018, a NMC of the larynx was diagnosed and surgically removed. After three months, the patient suffered a locoregional relapse with cervical metastases and underwent primary radiochemotherapy. Two subcutaneous periumbilical tumor with suspected metastases of the NMC occurred before the radiochemotherapy was completed.
After histological confirmation of the perimubilical metastases of a NMC, the patient underwent therapy with Bromodomain-Inhibitors in a clinical study and died only nine months after initial diagnosis. This case illustrates that the inclusion of rare differential diagnoses is important, even if the symptoms are supposedly unambiguous. Due to the high recurrence rate and the rapid hematogenic metastasis, this carcinoma should be treated multimodally as quickly as possible. Furthermore, participation in a clinical study should be considered at the initial diagnosis.
