Introduction
- NUT carcinoma (NC) is a rare and aggressive malignancy characterized by rearrangement of the NUTM1gene on chromosome 15q14.
- NC presents as undifferentiated or poorly differentiated squamous cell carcinoma that frequently arises in the head&neck or lungs.
- In approximately two-thirds of cases, NUTM1is fused to bromodomain-containing protein (BRD) 4 on chromosome 19p13.1.
- Several other partners have been identified, includingBRD3 and nuclear receptor binding SET domain protein (NSD3).
- Unlike many cancers, the NUTM1rearrangement appears to be the sole driver of tumorigenesis.
- Current trials are evaluating agents that target the NUTM1::BRD4 fusion protein; however still no effective treatment has been described.
- Overall survival is reportedly low in a few studies –4.1 months as reported by Xieet al.
- The rarity of this disease has made characterizing shared pathological and clinical features more difficult.
- This project aims to comprehensively characterize the molecular landscape of NC in order toidentify potential avenues for future treatments.