de Andrea Carlos E, San-Julian Mikel, Bovée Judith V M G
Department of Histology and Pathology, University of Navarra, Irunlarrea 1, Navarra, Pamplona 31008, Spain.
Department of Orthopaedic Surgery and Traumatology, University Clinic of Navarra, Irunlarrea 1, Navarra, Pamplona 31008, Spain.
Surg Pathol Clin. 2017 Sep;10(3):537-552. doi: 10.1016/j.path.2017.04.005.
Cartilage-forming tumors of bone are a heterogeneous group of tumors with different molecular mechanisms involved. Enchondromas are benign hyaline cartilage-forming tumors of medullary bone caused by mutations in IDH1 or IDH2. Osteochondromas are benign cartilage-capped bony projections at the surface of bone. IDH mutations are also found in dedifferentiated and periosteal chondrosarcoma. A recurrent HEY1-NCOA2 fusion characterizes mesenchymal chondrosarcoma. Molecular changes are increasingly used to improve diagnostic accuracy in chondrosarcomas. Detection of IDH mutations or HEY1-NCOA2 fusions has already proved their immense value, especially on small biopsy specimens or in case of unusual presentation.
骨软骨形成性肿瘤是一组异质性肿瘤，涉及不同的分子机制。内生软骨瘤是由IDH1或IDH2突变引起的髓内骨良性透明软骨形成性肿瘤。骨软骨瘤是骨表面的良性软骨帽状骨性突起。在去分化软骨肉瘤和骨膜软骨肉瘤中也发现了IDH突变。复发性HEY1-NCOA2融合是间叶性软骨肉瘤的特征。分子改变越来越多地用于提高软骨肉瘤的诊断准确性。IDH突变或HEY1-NCOA2融合的检测已经证明了它们的巨大价值，特别是在小活检标本或表现不寻常的情况下。
