Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs) are rare undifferentiated thoracic malignancies with poor prognosis. They predominantly affect young men who are heavy smokers. Recently, the category of SMARCA4-deficiency-related malignancy has been expanded to include extra-thoracic sites, such as the paranasal sinuses, gastrointestinal tract, ovary, and uterus. We report a rare case of SMARCA4-deficient tumors in the adrenal gland and small intestines. SMARCA4-deficient tumors should be included in the differential diagnosis when multiple large masses with heterogeneous contrast effect and strong accumulation are seen in cancers of unknown primary on 18F-fluorodeoxyglucose (FDG) positron emission tomography with computed tomography (PET/CT).
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http://dx.doi.org/10.1016/j.radcr.2023.11.038 | DOI Listing |
Front Med
January 2025
Department of Medical Oncology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, 310016, China.
SMARCA4-deficient non small cell lung cancer (SMARCA4-dNSCLC) has recently garnered increasing attention due to its high malignancy and poor prognosis. The literature suggests that in non small cell lung cancer (NSCLC), the loss of SMARCA4 frequently co-occurs with mutations in KRAS, KEAP1, and STK11 rather than in EGFR, ALK, and ROS1. Herein, we present the first documented case of SMARCA4-dNSCLC accompanied with rare mutations of EGFR exon 20 S768I and exon 18 G719X.
View Article and Find Full Text PDFJTO Clin Res Rep
January 2025
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
Introduction: Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs) are a recently defined group of aggressive cancers in which the effectiveness of standard treatments for lung cancer is unknown.
Methods: We collected clinical, pathologic, and demographic variables from five institutions for patients whose tumors met criteria for SMARCA4-UTs (undifferentiated phenotype and loss of SMARCA4 (BRG1) by immunohistochemistry).
Results: We identified 92 patients with SMARCA4-UTs; 58 (63%) had stage IV disease at diagnosis and 16 (17%) developed recurrent or metastatic disease after initial diagnosis.
Front Oncol
December 2024
Department of Respiratory and Critical Care Medicine, Zibo Central Hospital, Zibo, China.
Background: SMARCA4-deficient (BRG-1 deficient) primary thoracic tumors are rare aggressive malignancies associated with poor prognosis. While complete BRG-1 loss is well-documented, the clinical implications of partial BRG-1 deficiency remain unclear. This case report explores a case of mixed lung cancer with partial BRG-1 deficiency and KRAS G12C mutation, highlighting its clinical relevance, treatment challenges, and the importance of comprehensive molecular profiling.
View Article and Find Full Text PDFInt Cancer Conf J
January 2025
Department of Hematology and Medical Oncology, Kanagawa Cancer Center, 2-3-2, Nakao, Asahi, Yokohama, Kanagawa 2418515 Japan.
BMJ Case Rep
January 2025
Kansai Medical University, Hirakata Hospital, Hirakata, Japan.
SMARCA4-deficient undifferentiated cervical carcinoma is an extremely rare and aggressive malignancy, and effective treatment options are lacking. We experienced a rare case involving a patient with SMARCA4-deficient undifferentiated cervical carcinoma who was successfully managed in the long term. A woman in her 40s presented with a chief complaint of abnormal vaginal bleeding.
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