Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
复制标题
DOI：
10.1002/ijc.10864
复制
发表时间：
2003-02-20
影响因子：
6.4
通讯作者：
Mertens, F
中科院分区：
文献类型：
--
作者：
Dahlén, A;Debiec-Rychter, M;Mertens, F
13 号染色体长臂的缺失和结构重排经常在良性和低度恶性脂肪瘤中观察到，但对其分子遗传学后果尚不清楚。我们评估了 40 例新发病例和 22 例先前发表的 13 号染色体异常病例（35 例普通脂肪瘤、IS 梭形细胞/多形性脂肪瘤、2 例粘液脂肪瘤、I 血管粘液脂肪瘤和 9 例非典型脂肪瘤）的核型，发现 13q 12-22 条带经常受到影响。选择该区域内具有结构异常的 27 例，使用一组 20 个探针，通过中期荧光原位杂交 (FISH) 进行断点和缺失定位。 27 个病例中的 23 个发现了缺失。其余 4 个案例看似平衡重排。断点分散但聚集在带 13q 14 上，并且在所有不平衡异常的情况下，带 13q 14 内的有限区域被部分或完全删除。在 5 个病例中发现了带 13q 14 内的缺失以及其他同源物上的断点，其中 4 个病例可以进一步测试视网膜母细胞瘤 (RBI) 基因的状态。在所有 4 个案例中，只有 I 个基因拷贝被删除。除了 RBI 基因座附近的断裂和缺失外，13q 的其他几个区域也经常受到影响，例如遗传性乳腺癌 (BRCA2; 13q 12) 和脂肪瘤 HMGIC 融合伴侣 (LHFP; 13q13) 基因附近。我们的研究结果强烈表明，RBI 基因座远端 13q 14 内有限区域（类似于 2.5 Mbp）的缺失对于脂肪瘤亚型的发展至关重要。 (C) 2002 Wiley-Liss, Inc.
Deletions and structural rearrangements of the long arm of chromosome 13 are frequently observed in benign and low-malignant lipomatous tumors, but nothing is known about their molecular genetic consequences. We assessed the karyotypes of 40 new and 22 previously published cases (35 ordinary lipomas, IS spindle cell/pleomorphic lipomas, 2 myxolipomas, I angiomyxolipoma and 9 atypical lipomatous tumors) with chromosome 13-abnormalities, and found bands 13q 12-22 to be frequently affected. Twenty-seven cases with structural abnormalities within this region were selected for breakpoint and deletion mapping by metaphase fluorescence in situ hybridization (FISH), using a set of 20 probes. Deletions were found in 23 of 27 cases. The remaining 4 cases had seemingly balanced rearrangements. The breakpoints were scattered but clustered to band 13q 14, and in all cases with unbalanced abnormalities, a limited region within band 13q 14 was partially or completely deleted. A deletion within band 13q 14 was found together with a breakpoint on the other homologue in 5 cases, 4 of which could be tested further with regard to the status of the retinoblastoma (RBI)-gene. In all 4 cases, only I copy of the gene was deleted. In addition to the breaks and deletions in the vicinity of the RBI-locus, several other regions of 13q were recurrently affected, e.g., in the vicinity of the hereditary breast cancer (BRCA2; 13q 12)- and lipoma HMGIC fusion partner (LHFP; 13q13)- genes. Our findings strongly indicate that deletion of a limited region (similar to2.5 Mbp) within 13q 14, distal to the RBI-locus, is of importance in the development of a subset of lipomatous tumors. (C) 2002 Wiley-Liss, Inc.