Background
NUT carcinoma (NC) is a rare and highly aggressive malignant tumor with
unknown histologic origin and without any clinical or histomorphological
features to distinguish, except genetically defined by the presence of
chromosomal rearrangements involving the NUT (also known as NUTM1,
Nuclear Protein in Testis) gene.1-3 In 1991,
Kubonishi4 first reported a case of thymic carcinoma
characterized by t(15; 19) translocation. But it was not until the
discovery of formation of a BRD4-NUT fusion oncogene in 2003, resulting
from the t(15;19) translocation, NC was defined.1,5
Although NC can occur in people of any age (0–81.7 years), the majority
are adolescents or young adults (median age 16–22 years) and it affects
males and females equally.6,7 It is also known as NMC
(NUT middle carcinoma) because it typically arises from midline upper
airway locations, such as head and neck and thorax. However, some cases
also occur in areas other than the above organs, including:
lungs,8 salivary glands,9pancreas10 and bladder1.
NC is clinically distinctly aggressive, often accompanied by extensive
metastases at the time of diagnosis, and rapidly
fatal.3 Because NC often occurs in the mediastinum or
lungs and is usually accompanied by distant and lymph node metastases,
it is often mistaken for small cell lung cancer in clinical practice,
however, NC progresses more rapidly and often affects young people.
Despite such a poor prognosis for NC, there are not many effective
treatments and not much research on this. Herein, we report a case of
pulmonary NC that achieved long-term survival after a combination of
chemotherapy, radiotherapy, and immunotherapy.