Fletcher J A, Gebhardt M C, Kozakewich H P
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115.
Cancer Genet Cytogenet. 1994 Oct;77(1):81-8. doi: 10.1016/0165-4608(94)90154-6.
Relatively few karyotypes have been reported from short-term cultures and/or direct harvests of osteosarcomas. We describe clonal aberrations in 17 high-grade osteosarcoma specimens and in one low-grade osteosarcoma. The high-grade osteosarcomas were karyotyped after direct harvest (four cases) or after short-term culture periods of < 1 week (13 cases). Three of these specimens, a primary osteosarcoma and two lung metastases, were from the same patient and shared a number of clonal aberrations. No consistent chromosome translocations were identified in the overall group of high-grade osteosarcomas, but potential nonrandom deletions involved 6q21-->qter, 9p21-->pter, chromosome 10, chromosome 13, 17p12-pter, and chromosome 20. Ring chromosomes were detected in three cases, and double-minute (dmin) chromosomes were detected in six. All high-grade osteosarcomas had numerous nonclonal chromosome aberrations superimposed on complex clonal events. The single low-grade osteosarcoma was characterized by a balanced, nonconstitutional, t(5;10) (p13;p14-15), together with an addition to the short arm of chromosome X. This is the first translocation reported in low-grade osteosarcoma, and the simplicity of the karyotype contrasts strikingly with those in the high-grade osteosarcomas.
相对较少有关于骨肉瘤短期培养物和/或直接取材的核型报道。我们描述了17例高级别骨肉瘤标本和1例低级别骨肉瘤中的克隆性畸变。高级别骨肉瘤在直接取材后（4例）或短期培养<1周后（13例）进行核型分析。其中3个标本，1例原发性骨肉瘤和2例肺转移瘤，来自同一患者并共享一些克隆性畸变。在高级别骨肉瘤的总体组中未发现一致的染色体易位，但潜在的非随机缺失涉及6q21→qter、9p21→pter、10号染色体、13号染色体、17p12 - pter和20号染色体。3例检测到环状染色体，6例检测到双微体（dmin）染色体。所有高级别骨肉瘤在复杂的克隆事件上叠加有大量非克隆性染色体畸变。单一的低级别骨肉瘤的特征是一个平衡的、非先天性的t(5;10)(p13;p14 - 15)，以及X染色体短臂的附加。这是低级别骨肉瘤中首次报道的易位，其核型的简单性与高级别骨肉瘤形成鲜明对比。
