Department of Translational Research and of New Technologies in Medicine and Surgery University of Pisa, Pisa.
Department of Pathology, Southern California Permanente Medical Group, Woodland Hills Medical Center, Woodland Hills, CA.
Adv Anat Pathol. 2021 May 1;28(3):139-149. doi: 10.1097/PAP.0000000000000295.
Bone and soft tissue tumors of the head and neck are relatively uncommon tumors that often represent a diagnostic challenge because of the wide range of entities that must be considered in the differential diagnosis. Over the past few years, classification of bone and soft tissue tumors has evolved primarily because of substantial contributions from molecular genetics, with the identification of new markers that are increasingly used to complement histopathologic findings in the routine diagnostic workup. This review focuses on the recently described mesenchymal tumors that preferentially involve the head and neck region, with a focus on the most relevant novel immunohistochemical and molecular findings, including gene fusions and mutations, that can help in the diagnosis and in the assessment of clinical behavior.
头颈部的骨与软组织肿瘤较为少见，由于在鉴别诊断中需要考虑广泛的病变，因此常常具有诊断挑战性。在过去的几年中，骨与软组织肿瘤的分类主要是因为分子遗传学的巨大贡献而不断发展，新的标志物被不断识别出来，这些标志物越来越多地用于补充常规诊断工作中的组织病理学发现。本综述重点介绍了最近描述的主要发生于头颈部区域的间叶性肿瘤，重点介绍了最相关的新的免疫组化和分子发现，包括基因融合和突变，这些发现有助于诊断和评估临床行为。
