Chromosome 9 alterations and trisomy 22 in central chondrosarcoma:: A cytogenetic and DNA flow cytometric analysis of chondrosarcoma subtypes
Chromosome 9 alterations and trisomy 22 in central chondrosarcoma:: A cytogenetic and DNA flow cytometric analysis of chondrosarcoma subtypes
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DOI：
10.1097/00019606-200112000-00004
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发表时间：
2001-12-01
影响因子：
--
通讯作者：
Hogendoorn, PCW
中科院分区：
文献类型：
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作者：
Bovée, JVMG;Sciot, R;Hogendoorn, PCW
软骨肉瘤是一种恶性软骨肿瘤。大多数位于髓腔(中央型软骨肉瘤)，少数发生在先前存在的骨软骨瘤(外周性软骨肉瘤)。作者报道了37例中央型、周围型、皮质旁和去分化软骨肉瘤的核型。利用杂合性缺失(LOH)分析和DNA流式细胞术，作者先前发现中央型和周围型软骨肉瘤可能通过不同的遗传机制发生发展。周围性软骨肉瘤的特点是遗传不稳定，正如以前所显示的那样，高比例的LOH和广泛的DNA倍体。作者现在表明，所有测试的外周软骨肉瘤都是非整倍体。并伴有许多非特异性染色体异常。两个皮质旁软骨肉瘤的染色体数目正常，但结构改变有限。证实皮质旁和周围性软骨肉瘤是两种不同的临床病理实体，具有不同的遗传背景。中枢性软骨肉瘤以前被发现是二倍体周围有有限的杂合性缺失，最常见的发生在9p21。在目前的研究中，7个中心性软骨肉瘤中有5个与9号染色体有关，而在4个周围性软骨肉瘤中只有1个与9号染色体有关。3例中枢性肿瘤累及9P12-22区域，提示9号染色体在中枢性软骨肉瘤的发生中起重要作用。此外，仅在4例中央型软骨肉瘤中发现了22三体。
Chondrosarcomas are malignant cartilaginous tumors. Most are located in the medullar cavity (central chondrosarcoma), and a minority develop in a preexisting osteochondroma (peripheral chondrosarcoma). The authors present karyotypes for 37 central, peripheral, juxtacortical, and dedifferentiated chondrosarcomas. Using loss of heterozygosity (LOH) analysis and DNA flow cytometry, the authors previously showed that central and peripheral chondrosarcomas probably evolve by different genetic mechanisms. Peripheral chondrosarcoma is characterized by genetic instability, as was previously shown by a high percentage of LOH and a broad range in DNA ploidy. The authors now show that all peripheral chondrosarcomas tested are aneuploid. combined with many nonspecific chromosomal aberrations. Two juxtacortical chondrosarcomas showed normal chromosome numbers combined with limited structural alterations. substantiating that juxtacortical and peripheral chondrosarcomas are two clinicopathologically different entities with a different genetic background. Central chondrosarcomas were previously found to be peridiploid with limited LOH, most frequent at 9p21. In the current study, chromosome 9 was involved in five of seven central chondrosarcomas compared with only one of four peripheral chondrosarcomas. Three central tumors showed involvement of the 9pl2-22 region, suggesting an important role for chromosome 9 in the oncogenesis of central chondrosarcoma. Moreover, trisomy 22 was found in four central chondrosarcomas only.