Expert consensus and current landscape of NUT carcinoma: A comprehensive strategy from diagnosis to treatment

Nuclear protein of the testis (NUT) carcinoma is a rare and highly aggressive malignancy characterized by the rearrangement of the NUT midline carcinoma family member 1 (NUTM1) gene. Nevertheless, standardized strategies for its diagnosis and treatment remain unavailable, underscoring the need for expert consensus. To address this gap, we conducted a systematic review to gather comprehensive information on NUT carcinoma from five databases: PubMed, Web of Science, Embase, Cochrane Library, and Ovid Medline. This expert consensus was collaboratively developed by a team of international multidisciplinary experts, in partnership with the NUT Carcinoma Diagnosis Working Group of the Chinese Anti-Cancer Association’s Oncogene Diagnosis Professional Committee. This working group comprises medical oncologists, radiation oncologists, surgical oncologists, pathologists, nurses, molecular biologists, statisticians, and bioinformatics specialists. A systematic review, based on data from 526 patients across 199 articles, was conducted to comprehensively explore various characteristics, including demographic features (e.g., patient gender, distribution regions, and age), tumor-node-metastasis (TNM) classification stage, clinical symptoms, tumor size, metastatic patterns, immunohistochemical (IHC) findings, treatment modalities, prognosis-related information, and NUTM1 fusion partners. We have developed an expert consensus on diagnosing and treating NUT carcinoma using a multidisciplinary approach. The guideline provides eight recommendations, addressing epidemiological characteristics, clinical and imaging manifestations, pathological findings, IHC features, molecular mechanisms and subtypes, prognosis, diagnosis, and treatment strategies for NUT carcinoma. Furthermore, an international platform has been established to disseminate NUT carcinoma knowledge and patient recruitment, providing patients and healthcare providers access to NUT carcinoma-related information and updates on clinical trial recruitment.