Nuclear protein in testis carcinoma: a diagnostic and therapeutic challenge

摘要

Nuclear protein in testis (NUT) carcinoma, formerly known as NUT midline carcinoma, is a rare but aggressive cancer.1 The exact prevalence is unknown, but median prognosis is approximately 6 months in the reported cases.2 NUT carcinoma arises from chromosomal rearrangements of the NUT gene, resulting in a poorly differentiated squamous cell carcinoma.3 Two-thirds of cases result from t(15;19) translocation, a fusion protein of NUT (15q14) to BRD4 (19p13.1).3 BRD4 binds to hyper-acetylated histone regions of chromatin, resulting in constitutional activation of transcriptional regulators ultimately inhibiting cell differentiation.4,5 The remaining cases, named NUT variant, result from NUT fusion to other partner genes. Diagnosis is made through positive immunohistochemistry to the NUT antibody, by fluorescent in situ hybridisation or next-generation sequencing.