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OBJECTIVE: Nuclear protein in testis (NUT) carcinoma is characterized by NUT gene rearrangement on chromosome 15. The objective of this study was to investigate the clinical features, immunohistochemistry, treatment, diagnosis and prognosis of sinonasal NUT carcinoma specifically. METHODS: Clinical data for 10 cases of NUT cancer confirmed by pathology were retrospectively analyzed, and the relevant literature was reviewed. RESULTS: Among the 10 patients, 6 were males, and 4 were females. The median age was 34 years (15-69 years). Nine patients presented with locally advanced cT4a stage. The most common treatment was complete resection combined with radiotherapy, chemotherapy, and targeted therapy. All 10 patients had pathologically poorly differentiated or undifferentiated carcinoma. Furthermore, immunohistochemical staining showed that NUT protein was positive in all 10 patients, and most cases expressed p63, p40 and CK. The Ki-67 positive index of 8 patients ranged from 40 to 80%, with a median of 50%, and NUTM1 gene disruption was detected in both of the remaining cases by FISH. As of April, 2023, all patients were followed up with for 1-51 months, with a median follow-up time of 14 months. Three patients died due to widespread systemic metastasis, 3 relapsed, and 4 had no recurrence or metastasis. CONCLUSION: Sinonasal NCs (NUT carcinomas) is a rare and highly aggressive malignant tumor with rapid progression and a poor prognosis. Correct histopathological diagnosis is the primary prerequisite for determining appropriate treatment. There are currently no effective treatment options for NCs. Targeted therapy may become an effective method to treat NCs.
RESUMO
METHODS: Two datasets were used as training and validation cohorts to establish the predictive model. We used three types of screening criteria: background analysis, pathway analysis, and functional analysis provided by the cBioportal website. Fisher's exact test and multivariable logistic regression were performed to screen out related genes. Furthermore, we performed receiver operating characteristic (ROC) and Kaplan-Meier curve analyses to evaluate the correlation between the selected genes and overall survival. RESULT: We screened five genes (KNL1, NRXN1, C6, CCDC169-SOHLH2, and TTN) that were highly related to recurrence of GC. The area under the receiver operating characteristic (ROC) curve was 0.813, which was much higher than that of the baseline model (AUC = 0.699). This result suggested that the mutation of five selected genes had a significant effect on the prediction of recurrence compared with other factors (age, stages, history, etc.). Furthermore, the Kaplan-Meier estimator also revealed that the mutation of five genes positively correlated with patient survival. CONCLUSIONS: The patients who have mutations in these five genes may experience longer survival than those who do not have mutations. This five-gene panel will likely be a practical tool for prognostic evaluation and will provide another possible way for clinicians to determine therapy.