NUT Carcinoma in Children and Adolescents: An Analysis of the European Cooperative Study Group on Pediatric Rare Tumors (EXPeRT)

Background And Aims: NUT carcinoma (NC) is a sporadic, highly aggressive tumor that primarily affects children, adolescents, and young adults and is characterized by the presence of somatic NUTM1 rearrangements. This analysis by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) aims to fill the knowledge gap regarding the clinical characteristics of children with NC.

Methods: A retrospective case series of NC-patients aged 0-18 years treated between 2011 and 2023 was conducted using the EXPeRT database. Relevant clinical characteristics, including treatment and outcome were recorded.

Results: Twenty-seven patients with a median age of 13 years (range 7-18) were analyzed. Thirteen patients were initially misdiagnosed. Sixteen patients had thoracic and 11 extra-thoracic tumors, including three in the nasal/sinus region and two in the submandibular glands. Despite intense multimodal treatment, median event-free and overall survivals were 1.5 and 6.5 months, respectively.

Conclusions: Early diagnosis of NC by examination of the NUTM1 rearrangement in undifferentiated or poorly differentiated carcinomas is crucial in order to initiate specific and intensive therapy as quickly as possible. Similar to adult patients, only a minority of pediatric patients achieved prolonged survival. Therefore, the development of novel therapeutic strategies in future joint clinical trials is essential.