Objective:To investigate the clinicopathological features, immunophenotype, molecular characteristics, and differential diagnosis of primary intracranial DICER1-mutant sarcoma in order to better understand this tumor type.Methods:A retrospective analysis was conducted on 7 cases of primary intracranial DICER1-mutant sarcoma diagnosed in the Department of Pathology, Sun Yat-sen University Cancer Center, Guangzhou, China between 2021 and 2023 using next-generation sequencing. At the same time, 10 gliosarcomas, 4 intracranial FET::CREB fusion-positive mesenchymal tumors, 4 malignant meningiomas, 3 malignant solitary fibrous tumors, 3 malignant peripheral nerve sheath tumors, 3 synovial sarcomas and 3 rhabdomyosarcomas (total 30 cases) were selected as control.Results:Among the 7 patients with primary intracranial DICER1-mutant sarcoma, 6 were male and 1 was female, aged 10-32 years (median, 23 years). The tissue morphology was predominantly spindle or pleomorphic sarcoma-like, with 6 cases exhibiting eosinophilic globules, and 3 cases showing rhabdomyoblastic or rhabdomyosarcoma-like cell differentiation. Immunohistochemistry revealed focal desmin expression in 3 cases (3/7), ATRX loss in 3 cases (3/7), and p53 mutant pattern in 4 cases (4/7). Additionally, 4 cases (4/7) showed focal or diffuse SALL4 expression, whereas the control cases (30 cases) did not exhibit SALL4 protein expression, suggesting that SALL4 may possess certain auxiliary diagnostic value. Next-generation sequencing confirmed that all 7 cases of primary intracranial DICER1-mutant sarcoma harbored mutations in the DICER1 gene, with 5 cases having the mutation site at p.E1813D. Until May 2024, all 7 patients were alive.Conclusions:Primary intracranial DICER1-mutant sarcoma is a rare tumor. Understanding its morphological characteristics, immunohistochemical and molecular markers and differential diagnosis is crucial to avoid misdiagnosis and to improve diagnostic accuracy of this tumor.

OBJECTIVE To analyze the differences in clinical and imaging characteristics of patients with respiratory epithelial adenomatoid hamatoma(REAH)and nasal polyps(NP)whose lesions are located in bilateral olfactory cleft regions,so as to provide evidence for clinicians in the preoperative differential diagnosis of REAH and NP.METHODS Patients with bilateral olfactory cleft REAH,who underwent nasal endoscopic surgery from June 2006 to August 2023 in Beijing Tongren Hospital,were retrospectively analyzed as the REAH group.Patients with bilateral olfactory cleft NP who underwent nasal endoscopic surgery from January 2023 to October 2023 in Beijing Tongren Hospital were included and set as the NP group.The demographic and clinical characteristics,as well as the sinus CT data were analyzed to explore the intergroup differences.RESULTS Both the REAH group and the NP group included 155 patients.The REAH group was dominated by older men,and the prevalence of comorbid asthma was lower than that in the NP group(P<0.05).In the REAH group,the middle turbinate width,the superior turbinate width,the ratio of middle turbinate width/orbital board width,the ratio of superior turbinate width/middle orbital board width,and the maximum angle between the middle turbinate and nasal septum were significantly higher than those in the NP group(P<0.05).CONCLUSION Sinus CT examination can help clinicians identify REAH lesions before surgery,which is conducive to the formulation and implementation of treatment plans.

Humans ; China/epidemiology* ; SARS-CoV-2 ; COVID-19