NUT carcinoma of the cheek managed with chemotherapy and surgical resection

NUT(Nuclear Protein in Testes) carcinoma is a rare and aggressive malignancy characterised by rearrangements of the NUTM1 gene, primarily affecting midline structures in children and adults. We report a middle childhood male who presented with a left cheek swelling initially noticed 2 months earlier, surgically resected 1 month ago and recurred over the past week. Histopathology revealed a poorly differentiated neoplasm, with immunohistochemistry showing diffuse CK5/6, P63, P40 expression, intact SMARCA4, P16 negativity and speckled NUT nuclear staining confirming NUT carcinoma. Imaging demonstrated local extension with small-volume nodal metastases. He was treated with nine cycles of VDC-IE(vincristine, doxorubicin, and cyclophosphamide alternating with ifosfamide and etoposide) chemotherapy given at 3-week intervals, complicated by transient iron deficiency anaemia, followed by surgical excision with neck dissection and fibular flap reconstruction. Post-treatment positron emission tomography scan showed no metabolically active disease. Maintenance therapy with the histone deacetylase inhibitor vorinostat was initiated. This case highlights the importance of early recognition, multimodal therapy and emerging targeted treatment in improving outcomes for NUT carcinoma.