Sawyer J R, Swanson C M, Lukacs J L, Nicholas R W, North P E, Thomas J R
Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, USA.
Cancer. 1998 Feb 1;82(3):474-83.
The finding of a cytogenetic-pathologic correlation between complex karyotypes and high grade cartilaginous tumors has been reported. However, few cytogenetic reports exist regarding benign or low grade lesions. A subset of low grade malignant cartilaginous tumors is characterized by locally aggressive behavior but no metastatic potential. Because the histopathologic distinction between benign, borderline, or low grade malignant cartilaginous lesions can be difficult, the finding of additional tumor markers associated with the clinical behavior of borderline cartilaginous lesions could be clinically significant.
Four cartilaginous tumors, including an osteochondroma (OC), a chondromyxoid fibroma (CF), an enchondroma (EC), and a dedifferentiated chondrosarcoma (DCS), were cultured and harvested using short term, in situ culture techniques. Chromosome analysis was performed by conventional G-banding and fluorescence in situ hybridization was used to confirm G-banding.
The stemlines of all four tumors showed multiple chromosome anomalies that included aberrations of 6q13-21. The OC showed a t(6;16)(q21;p13.3). The CF showed a complex rearrangement between the chromosome 6 homologues, resulting in an inv(6)(p25q23)t(6;6)(q23;q13). This tumor also showed the clonal evolution of telomeric associations resulting in duplications, deletions, and the formation of a ring 15. The EC showed a der(6)t(6;15)(q13;q11)t(15;22)(q22;q13) stemline and subclones with an unstable iso 17q that subsequently fused to both ends of chromosome 16. The DCS showed a del(6)(q13), r(9), +12 stemline.
The cytogenetic findings of this study suggest the cytogenetic-pathologic correlation of complex karyotypes found in high grade cartilage tumors may extend to lower grade tumors with complex karyotypes. These findings further suggest that chromosome aberrations in the region of 6q13-21 may be associated with locally aggressive behavior in patients with cartilage tumors.
已有报道发现复杂核型与高级别软骨肿瘤之间存在细胞遗传学 - 病理学相关性。然而，关于良性或低级别病变的细胞遗传学报告很少。一部分低级别恶性软骨肿瘤的特征是具有局部侵袭性行为但无转移潜能。由于良性、交界性或低级别恶性软骨病变在组织病理学上的区分可能困难，因此发现与交界性软骨病变临床行为相关的其他肿瘤标志物可能具有临床意义。
使用短期原位培养技术培养并收获了四个软骨肿瘤，包括一个骨软骨瘤（OC）、一个软骨黏液样纤维瘤（CF）、一个内生软骨瘤（EC）和一个去分化软骨肉瘤（DCS）。通过常规G显带进行染色体分析，并使用荧光原位杂交来确认G显带。
所有四个肿瘤的干系均显示多个染色体异常，包括6q13 - 21的畸变。OC显示t(6;16)(q21;p13.3)。CF显示6号染色体同源物之间的复杂重排，导致inv(6)(p25q23)t(6;6)(q23;q13)。该肿瘤还显示端粒关联的克隆进化，导致重复、缺失以及形成一个15号环状染色体。EC显示一个der(6)t(6;15)(q13;q11)t(15;22)(q22;q13)干系以及具有不稳定的等臂17q的亚克隆，该等臂17q随后与16号染色体的两端融合。DCS显示一个del(6)(q13)、r(9)、+12干系。
本研究的细胞遗传学结果表明，在高级别软骨肿瘤中发现的复杂核型的细胞遗传学 - 病理学相关性可能延伸至具有复杂核型的低级别肿瘤。这些结果进一步表明，6q13 - 21区域的染色体畸变可能与软骨肿瘤患者的局部侵袭性行为相关。
