Roessner Albert, Schoeder Viktor, Smolle Maria, Haybäck Johannes
Institut für Pathologie, Medizinische Fakultät, Otto-von-Guericke-Universität Magdeburg, Leipziger Straße 44, 39120, Magdeburg, Deutschland.
Universitätsklinik für Orthopädie und Traumatologie, Medizinische Universität Graz, Graz, Österreich.
Pathologe. 2020 Mar;41(2):123-133. doi: 10.1007/s00292-020-00763-2.
Osteoid osteoma and osteoblastoma are the most important benign osteoid-forming tumors. They grow slowly and are well differentiated. Histologically, the tumor cells show no atypia and no increased mitoses. In typical cases, they can be clearly diagnosed. However, the rare cases on the dividing line between osteoblastoma and osteosarcoma are extremely problematic. In these cases, molecular genetic investigations should contribute to finding the correct diagnosis in the future.Juvenile highly malignant osteosarcoma is the most important malignant osteoid-forming tumor. About 40 years ago, neoadjuvant chemotherapy was introduced for the mostly young patients. This therapy highly significantly improved prognosis. However, a plateau phase was quickly reached and the last several decades have seen no further progress in conventional therapeutic approaches. There is no doubt that further progress can only be achieved on the basis of new molecular genetic and cell biological findings. The target-therapeutic strategies derived from these findings will be discussed in this review.The rare parosteal osteosarcoma and the even rarer periosteal osteosarcoma are mostly not highly malignant tumors that are located on the surface of bone. The parosteal osteosarcoma is usually G1 and the periosteal osteosarcoma G2. Occasionally, the differential diagnosis between a parosteal osteosarcoma and a fibrous dysplasia is difficult. In such rare cases, the detection of GNAS mutations in fibrous dysplasia can prove useful. In contrast to chondromas and chondrosarcomas, periosteal osteosarcomas do not contain IDH1 and IDH2 mutations.
骨样骨瘤和骨母细胞瘤是最重要的良性骨样形成肿瘤。它们生长缓慢,分化良好。组织学上,肿瘤细胞无异型性且无有丝分裂增加。在典型病例中,它们可以明确诊断。然而,处于骨母细胞瘤和骨肉瘤分界线的罕见病例极具问题。在这些病例中,分子遗传学研究应有助于未来找到正确的诊断。青少年高度恶性骨肉瘤是最重要的恶性骨样形成肿瘤。大约40年前,新辅助化疗被引入用于大多数年轻患者。这种治疗显著改善了预后。然而,很快就进入了平台期,在过去几十年里,传统治疗方法没有进一步进展。毫无疑问,只有基于新的分子遗传学和细胞生物学发现才能取得进一步进展。本文将讨论从这些发现中衍生出的靶向治疗策略。罕见的骨旁骨肉瘤和更罕见的骨膜骨肉瘤大多不是位于骨表面的高度恶性肿瘤。骨旁骨肉瘤通常为G1级,骨膜骨肉瘤为G2级。偶尔,骨旁骨肉瘤和骨纤维异常增殖症之间的鉴别诊断很困难。在这种罕见情况下,检测骨纤维异常增殖症中的GNAS突变可能会有帮助。与软骨瘤和软骨肉瘤不同,骨膜骨肉瘤不含有IDH1和IDH2突变。