Demystified molecular pathology of NUT midline carcinomas

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Abstract
NUT midline carcinoma (NMC) is a rare, highly lethal cancer that occurs in children and adults of all ages. NMCs uniformly present in the midline, most commonly in the head, neck or mediastinum, as poorly differentiated carcinomas with variable degrees of squamous differentiation. This tumour is defined by rearrangement of the nuclear protein in testis (NUT) gene on chromosome 15q14. In most cases,NUTis involved in a balanced translocation with theBRD4gene on chromosome 19p13.1, an event that creates aBRD4–NUTfusion gene. Variant rearrangements, some involving theBRD3gene, occur in the remaining cases. NMC is diagnosed by detection ofNUTrearrangement by fluorescence in situ hybridisation or reverse transcriptase PCR. Due its rarity and lack of characteristic histological features, most cases of NMC currently go unrecognised.