Frequent occurrence of loss of heterozygosity among tumor suppressor genes in uterine leiomyosarcoma.
Frequent occurrence of loss of heterozygosity among tumor suppressor genes in uterine leiomyosarcoma.
复制标题
子宫平滑肌肉瘤中抑癌基因杂合性缺失频繁发生。
作者：
Y. Zhai;T. Nikaido;A. Orii;A. Horiuchi;T. Toki;S. Fujii
目的
子宫平滑肌肉瘤是一种罕见的平滑肌肿瘤，恶性程度极高，局部复发和转移率高。由于肿瘤抑制基因通常在恶性肿瘤中发生改变，因此这些基因的突变可能与子宫平滑肌肉瘤的发生有关。
方法
选择了55名诊断为子宫平滑肌肿瘤的患者（37-70岁）。从石蜡包埋块的每个平滑肌肿瘤的四个或五个8微米厚的连续组织切片中提取DNA。在肿瘤抑制基因（TP 53、RB 1、DCC、NM 23、WT 1、D14 S267、P16、DPC 4、PTCH）内或附近的9个位点上检测杂合性丢失（洛）。
结果
20例平滑肌瘤中有19例在9个检测标记中的8个中至少发现1个洛缺失（1个位点完全没有发现洛缺失）。事实上，20例中有11例表现出两个或两个以上的洛缺失，在其余9例中，4例除了9个标记之一的改变外，还表现出p53点突变，而1例仅表现出p53突变。
结论
肿瘤抑制基因间的遗传变异的积累可能在子宫平滑肌肉瘤的发生和发展中起关键作用。
OBJECTIVE
Leiomyosarcoma of the uterus is a rare smooth muscle tumor; it is extremely malignant and the rates of local recurrence and metastasis are high. Since tumor suppressor genes are commonly altered in malignant tumors, it is possible that mutations in such genes are involved in the development of uterine leiomyosarcoma.
METHODS
Fifty-five patients (37-70 years of age) diagnosed as having smooth muscle tumors of the uterus were selected. DNA was extracted from four or five 8-microm-thick consecutive tissue sections of each smooth muscle tumor from the paraffin-embedded blocks. Loss of heterozygosity (LOH) was investigated at nine loci within or close to tumor suppressor genes (TP53, RB1, DCC, NM23, WT1, D14S267, P16, DPC4, PTCH).
RESULTS
Nineteen of twenty leiomyosarcomas revealed at least one instance of LOH among eight of the nine markers tested (one locus showed no LOH at all). In fact, 11 of the 20 cases exhibited two or more instances of LOH and, of the remaining 9 cases, 4 showed a point mutation of p53 in addition to an alteration in one of the 9 markers, while one exhibited a p53 mutation only.
CONCLUSION
An accumulation of genetic alterations among tumor suppressor genes may play a key role in the tumorigenesis and progression of uterine leiomyosarcoma.
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