AI Article Synopsis

  • * Recent research has broadened the understanding of SMARCA4-deficient malignancies to include tumors found beyond the thorax, such as in the paranasal sinuses and gastrointestinal areas.
  • * A notable case is reported of SMARCA4-deficient tumors found in the adrenal gland and small intestines, highlighting the need to consider these tumors in cancer diagnoses when unusual large masses are detected using FDG PET/CT imaging.

Article Abstract

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).

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10726321PMC
http://dx.doi.org/10.1016/j.radcr.2023.11.038DOI Listing

Publication Analysis

Top Keywords

smarca4-deficient tumors
12
tumors adrenal
8
adrenal gland
8
gland small
8
small intestines
8
rare case
8
smarca4-deficient
4
intestines rare
4
case report
4
report thoracic
4

Similar Publications

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 PDF

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.

View Article and Find Full Text PDF

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 PDF
Article Synopsis
  • A 50-year-old man presented with a large mass in his left thigh causing significant pain and impaired functionality, with imaging showing widespread tumors in several body parts, but the primary cancer source was unknown.
  • Despite rapid tumor progression, he began treatment with nivolumab, an immunotherapy drug, and further genomic profiling led to a re-diagnosis of SMARCA4-deficient epithelioid sarcoma.
  • After 5 weeks of treatment, the patient showed significant improvement despite facing some immune-related side effects; by the 12th dose, he had a positive response to the therapy with no new complications.
View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!