Pediatric NUT carcinoma: a patient series and literature review.

BACKGROUND

Nuclear protein in testis (NUT) carcinoma (NC) in children is a rare tumor with highly aggressive nature and dismal prognosis.

METHODS

We conducted a retrospective analysis of case series towards NC-patients aged 0-18 years treated at the Department of Pediatric Oncology, Sun Yat-sen University Cancer Center between July 2021 and September 2022. The primary end point was to explore the efficacy of therapy. The clinical and pathological characteristics of the patients were also analyzed. The last follow-up date was March 1, 2025.

RESULTS

The ages of the patients ranged from 8 to 18 years. The tumor sites were head and neck in four patients and vulva in one patient. Three patients underwent upfront surgical resections, followed by chemotherapy(CHT) ± radiotherapy. One patient received neoadjuvant chemotherapy followed by delayed resection and one patient with inoperable NC received chemotherapy only. BRD4-NUT fusion was positive in 3 patients. No recurrence occurred in two patients receiving postoperative chemotherapy, whereas the response was poor in two patients who could not be initially operated on. Currently, two patients are alive, while one patient died of postoperative infection.

CONCLUSIONS

NC is a rare and aggressive disease. Local therapy plays a vital role in disease control. NC seems to be sensitive to alkylating agents, platin compounds, and anthracyclines in combination. Multimodal approach including surgery, radiation, multidrug chemotherapy, and PD1 inhibitors may lead to improved outcomes for patients with NC. Novel therapies such as inhibitors of BET proteins, histone deacetylase, EZH2 warrant further exploration.