Nuclear protein in testis midline carcinoma in a Turkish boy: a case report

Nuclear protein in testis (NUT) midline carcinoma (NMC) is an undifferentiated carcinoma, usually localized to the midline and presenting a translocation in the gene for bromodomain containing protein 4. Here, we report a rare case of NMC in an 8-year-old Turkish boy.

There were masses in the lung, liver, and iliac wing representing metastases. Abdominal lymph node sampling revealed epithelial tumor infiltration with cellular pleomorphism. Immunohistochemistry was strongly positive for cytokeratin and epithelial membrane antigen protein. Because of undifferentiated carcinoma morphology, the tumor was considered to be a NMC. Immunoreactivity with antibodies to NUT and the presence of NUT clarified by fluorescence in situ hybridization (FISH) supported the diagnosis. Despite initial response to chemotherapy, the patient died 7 months after the diagnosis.

Immunoreactivity for NUT antibodies along with a dual-color FISH and karyotype analysis was suggestive for diagnosis of NMC. In differential diagnosis of undifferentiated carcinomas that occur particularly at midline localization, NMC should be considered.