"NUT carcinomas are rare and aggressive epithelial malignancies genetically defined by the rearrangement of the NUTM1 gene. It presents an undifferentiated carcinoma, most often seen in the midline structures of the thorax and head and neck 1-3."
"NUT carcinomas are very rare tumours; still, they account for up to 18% of poorly differentiated carcinomas of the upper aerodigestive tract and approximately 1% of all head and neck carcinomas. Although initially described in young patients, it affects a wide age range (median age of 24 years) and has no sex predilection 1-3."
"Patients with NUT carcinomas commonly present with symptoms of a rapidly enlarging mass, with symptoms dictated by the tumour's location (see below). Sometimes, patients present with nodal metastases or, less frequently, distant metastases (most often bone), which are present in approximately half of patients at the time of diagnosis 1-3."
"NUT carcinomas are driven by chromosomal translocation involving the NUTM1 gene, located on chromosome 15q4 1-3. In most cases (70-80%), this results in the BRD4-NUTM1 fusion oncogene. Other fusions include BRD3-NUTM1 (~15-30%) and NSD3-NUTM1 (~6%) 1-3. The resulting fusion protein blocks cellular differentiation and promotes proliferation 3."
"Despite treatment, NUT carcinoma carries a dismal prognosis, with a median overall survival of approximately 6.5 months 1,2. Some subgroups (e.g. head and neck location with non-BRD4-NUTM1 fusion) have substantially longer median survival (36.5 months) 1."
"NUT carcinomas are driven by chromosomal translocation involving the NUTM1 gene, located on chromosome 15q4 1-3. In most cases (70-80%), this results in the BRD4-NUTM1 fusion oncogene. Other fusions include BRD3-NUTM1 (~15-30%) and NSD3-NUTM1 (~6%) 1-3. The resulting fusion protein blocks cellular differentiation and promotes proliferation 3."
"No formal chemotherapy regimen has been established (c.2025), although various treatments used in other cancers have been employed with mixed results 2. Novel targeted direct inhibitors of the BRD4 portion of BRD4-NUTM1 have been developed and are being investigated 2."
"Despite treatment, NUT carcinoma carries a dismal prognosis, with a median overall survival of approximately 6.5 months 1,2. Some subgroups (e.g. head and neck location with non-BRD4-NUTM1 fusion) have substantially longer median survival (36.5 months) 1."
"intermediate prognosis: non-thoracic location with BRD4-NUTM1 fusion"
"best prognosis: non-thoracic location with BRD3- or NSD3-NUTM1 fusion"
"No formal chemotherapy regimen has been established (c.2025), although various treatments used in other cancers have been employed with mixed results 2. Novel targeted direct inhibitors of the BRD4 portion of BRD4-NUTM1 have been developed and are being investigated 2."
"No formal chemotherapy regimen has been established (c.2025), although various treatments used in other cancers have been employed with mixed results 2. Novel targeted direct inhibitors of the BRD4 portion of BRD4-NUTM1 have been developed and are being investigated 2."
Expected headings
"CT and MRI"
"NUT carcinomas are very rare tumours; still, they account for up to 18% of poorly differentiated carcinomas of the upper aerodigestive tract and approximately 1% of all head and neck carcinomas. Although initially described in young patients, it affects a wide age range (median age of 24 years) and has no sex predilection 1-3."
"stomach, pancreas, bladder, kidney, adrenal gland, other soft tissues, primary bone"
"Treatment is empirical, consisting of surgical resection, which, if possible, significantly improves progression-free survival and overall survival, radiotherapy and chemotherapy 2."