Cassier Philippe A, Dufresne Armelle, El Sayadi Hiba, Pissaloux Daniel, Alberti Laurent, Decouvelaere Anne Valérie, Ranchere Dominique, Ray-Coquard Isabelle, Blay Jean-Yves
Hôpital Edouard-Herriot, Service d'oncologie médicale, Lyon, France.
Bull Cancer. 2008 Oct;95(10):963-74. doi: 10.1684/bdc.2008.0730.
Recent progress made in the field of sarcoma biology has shed new light on the pathophysiology of these numerous but rare diseases. Soft tissue sarcomas can be divided into 6 sub-types based on the underlying molecular biology of the disease: 1) translocation leading to fusion proteins involving transcription factors or growth factors (Ewing sarcoma, myxoid liposarcoma, dermatofibrosarcoma protuberans); 2) tyrosine kinase receptor mutations (gastrointestinal stromal tumors); 3) tumor-suppressor gene deletion (type 1 neurofibromatosis, rhabdoid tumors); 4) genetic alteration such as amplification of chromosomal regions (well differentiated/dedifferentiated liposarcoma); 5) sarcomas with more complex genetic alterations (leiomyosarcoma) and 6) abnormalities involving the cell-adhesion pathways (aggressive fibromatosis). Together with the current development of numerous targeted therapies, these recent progress are the basis of tomorrow's personalised medicine for patients with soft tissue sarcoma.
肉瘤生物学领域的最新进展为这些众多但罕见疾病的病理生理学带来了新的曙光。软组织肉瘤可根据疾病的潜在分子生物学分为6个亚型：1）导致涉及转录因子或生长因子的融合蛋白的易位（尤因肉瘤、黏液样脂肪肉瘤、隆突性皮肤纤维肉瘤）；2）酪氨酸激酶受体突变（胃肠道间质瘤）；3）肿瘤抑制基因缺失（1型神经纤维瘤病、横纹肌样肿瘤）；4）基因改变，如染色体区域扩增（高分化/去分化脂肪肉瘤）；5）具有更复杂基因改变的肉瘤（平滑肌肉瘤）和6）涉及细胞黏附途径的异常（侵袭性纤维瘤病）。连同目前众多靶向治疗方法的发展，这些最新进展是未来软组织肉瘤患者个性化医疗的基础。
