Servicio de Anatomía Patológica, Hospital Clínico Universitario de Valencia, Spain; Departamento de Patología, Facultad de Medicina, Universidad de Valencia, Spain.
Departamento de Patología, Facultad de Medicina, Universidad de Valencia, Spain.
Rev Esp Patol. 2022 Jul-Sep;55(3):185-191. doi: 10.1016/j.patol.2019.07.005. Epub 2019 Nov 4.
Soft tissue tumors with myxoid components are often a diagnostic challenge for the pathologist. We retrospectively reviewed 41 cases of soft tissue tumors with myxoid components diagnosed in our center over a five-year period. The most frequent diagnoses were myxofibrosarcoma and myxoid liposarcoma, followed by low-grade fibromyxoid sarcoma, low-grade fibromyxoid tumor and myxoid neurofibroma. Other diagnoses included were extraskeletal myxoid chondrosarcoma, myxoinflammatory fibroblastic sarcoma, low-grade myxoliposarcoma, myofibrosarcoma, fibromatosis, solitary fibrous tumor, non-ossifying variant of ossifying fibromyxoid tumor and ancient neurinoma with myxoid degeneration. Immunohistochemical and molecular biology studies contributed significantly to the diagnosis. We highlight the importance of immunohistochemistry for MUC4 in the diagnosis of low-grade fibromyxoid sarcoma, and underscore the need for molecular studies in selected cases. Furthermore, several myxoid neoplasms present specific chromosomal translocations, therefore molecular biology studies to detect fusion genes are usually essential for the diagnosis. When the characteristics of the sample are not adequate for molecular biology, or no specific alterations are described, an in-depth knowledge of the histology of these lesions is still necessary to decide the most accurate diagnosis.
软组织肿瘤伴有黏液样成分常常给病理学家带来诊断上的挑战。我们回顾性分析了在过去五年中在我们中心诊断的 41 例伴有黏液样成分的软组织肿瘤。最常见的诊断是黏液纤维肉瘤和黏液样脂肪肉瘤，其次是低级纤维黏液样肉瘤、低级纤维黏液样肿瘤和黏液样神经纤维瘤。其他诊断包括 extraskeletal myxoid chondrosarcoma、myxoinflammatory fibroblastic sarcoma、低级黏液脂肪瘤肉瘤、肌纤维肉瘤、纤维瘤病、孤立性纤维性肿瘤、骨化性纤维黏液瘤的非骨化变异型和伴有黏液样变性的古神经瘤。免疫组织化学和分子生物学研究对诊断有重要贡献。我们强调了免疫组化在诊断低级纤维黏液样肉瘤中对 MUC4 的重要性，并强调了在某些情况下需要进行分子研究。此外，一些黏液性肿瘤存在特定的染色体易位，因此通常需要进行分子生物学研究以检测融合基因，这对诊断至关重要。当样本特征不足以进行分子生物学检查，或没有描述特定的改变时，深入了解这些病变的组织学特征仍然是做出最准确诊断的必要条件。
