Abstract

Giant cell tumors of the soft tissue are rare entities, and their occurrence within the breast is even more infrequent. This article provides a thorough review of the existing literature on giant cell tumors, focusing specifically on their manifestation in the soft tissue of the breast. Additionally, we present a detailed case report that explores the clinical, radiological, and histopathological aspects of a specific case, with a particular emphasis on investigating the presence of the H3F3A mutation. The literature review encompasses studies and cases reported in the past decades, shedding light on the clinical presentation, diagnostic challenges, and therapeutic modalities employed in the management of giant cell tumors in the soft tissue of the breast. We delve into the histopathological characteristics, immunohistochemical profiles, and molecular markers associated with these tumors, aiming to provide a comprehensive understanding of their nature and behavior. The case report details the clinical history, imaging findings, and pathological examination of a patient diagnosed with a giant cell tumor in the soft tissue of the breast. We discuss the challenges faced during diagnosis and treatment decisions, emphasizing the importance of accurate identification and characterization of these rare tumors. Notably, our investigation extends to the H3F3A mutation, a genetic alteration associated with certain bone and soft tissue tumors, as we seek to determine its potential relevance in the context of giant cell tumors in the breast. This article contributes to the existing body of knowledge by combining a comprehensive literature review with a detailed case report, offering insights into the clinical and molecular aspects of giant cell tumors in the soft tissue of the breast. Our exploration of the H3F3A mutation adds a novel dimension to the understanding of the genetic landscape of these tumors, potentially paving the way for more targeted diagnostic and therapeutic approaches in the future.