RESUMEN
BACKGROUND: SMARCA4 is a component gene of the SWI/SNF (SWItch/Sucrose NonFermentable) chromatin remodeling complex; undifferentiated tumors associated with its functional deletion have been described in several organs. However, no established treatment for these tumors currently exists. CASE: In this study, we report a case of a SMARCA4-deficient undifferentiated urothelial carcinoma with high PD-L1 expression that was effectively treated with nivolumab after early relapse following treatment for non-invasive bladder cancer. The histological morphology of the rhabdoid-like undifferentiated tumor of unknown primary led us to suspect a SWI/SNF-deficient tumor, and subsequent immunostaining led to the diagnosis of a SMARCA4-deficient undifferentiated tumor. This effort also led to the identification of the developmental origin of this SMARCA4-deficient undifferentiated tumor as a non-invasive bladder cancer. We also carried out a detailed immune phenotypic assay on peripheral T cells. In brief, a phenotypic change of CD8+T cells from naive to terminally differentiated effector memory cells was observed. CONCLUSION: Regardless of the organ of cancer origin or cancer type, SWI/SNF-deficient tumors should be suspected in undifferentiated and dedifferentiated tumors, and immune checkpoint inhibitors may be considered as a promising treatment option for this type of tumor. The pathogenesis of SMARCA4-deficient anaplastic tumors awaits further elucidation for therapeutic development.
Asunto(s)
Antígeno B7-H1 , ADN Helicasas , Nivolumab , Proteínas Nucleares , Factores de Transcripción , Neoplasias de la Vejiga Urinaria , Humanos , ADN Helicasas/genética , ADN Helicasas/deficiencia , Factores de Transcripción/genética , Factores de Transcripción/deficiencia , Factores de Transcripción/metabolismo , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Neoplasias de la Vejiga Urinaria/patología , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/diagnóstico , Antígeno B7-H1/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/deficiencia , Proteínas Nucleares/metabolismo , Nivolumab/uso terapéutico , Masculino , Carcinoma de Células Transicionales/tratamiento farmacológico , Carcinoma de Células Transicionales/patología , Carcinoma de Células Transicionales/genética , Carcinoma de Células Transicionales/diagnóstico , Anciano , Resultado del TratamientoRESUMEN
Background: Due to the lack of studies, the long-term prognoses of unfit patients with gastric cancer (GC) who did not receive any aggressive cancer treatment (best supportive care [BSC] cases) remain unclear, especially for those with potentially curable GC. We conducted this observational study to capture the real-world data of characteristics and outcomes for BSC cases. Method: Consecutive clinical records of patients with GC diagnosed at Steel Memorial Muroran Hospital from January 2017 to December 2021 were analyzed. Result: Of 481 patients diagnosed with GC, 91 (18.9%) were BSC cases. The median overall survival (OS) was 12.4, 8.3, and 2.5 months for clinical stage (cStage) I, II-III, and IV, respectively. Patients with potentially curable GC (cStage I-III) had significantly longer OS than those with incurable disease (cStage IV), with a hazard ratio for death of 0.29 (95% confidence interval: 0.18-0.47). Conclusion: Our report provides useful information for decision-making for unfit patients with GC in daily clinical practice.
RESUMEN
We herein report a case of atypical pseudo-Meigs' syndrome without pleural effusion. A 46-year-old woman was diagnosed with an ovarian tumor and sigmoid colon cancer with massive ascites. She underwent surgical resection of the sigmoid colon and bilateral salpingo-oophorectomy. The pathological diagnosis was sigmoid colon cancer with ovarian metastasis. A few days after the operation, the massive ascites disappeared. Immunostaining for vascular endothelial growth factor (VEGF) suggested its overproduction was involved in the development of the ascites. Although cases of pseudo-Meigs' syndrome without pleural effusion are rare, reporting such cases will facilitate the choice of more appropriate treatment strategies in future.
Asunto(s)
Síndrome de Meigs , Neoplasias Ováricas , Derrame Pleural , Neoplasias del Colon Sigmoide , Femenino , Humanos , Persona de Mediana Edad , Síndrome de Meigs/diagnóstico , Ascitis , Neoplasias del Colon Sigmoide/complicaciones , Neoplasias del Colon Sigmoide/diagnóstico , Neoplasias del Colon Sigmoide/cirugía , Factor A de Crecimiento Endotelial Vascular , Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Derrame Pleural/diagnóstico , Derrame Pleural/etiologíaRESUMEN
Our pathological study of a case of poorly differentiated lymphocyte-rich hepatocellular carcinoma suggested that immune checkpoint inhibitor may be an effective therapy. The histological type is an important factor in determining treatment choices.
RESUMEN
Mycophenolate mofetil resulted in rapid improvement of steroid-refractory immune-related adverse event hepatitis, induced by nivolumab plus ipilimumab.
