Semczuk Andrzej, Lorenc Anna, Putowski Lechoslaw, Futyma Konrad, Bryk Jaroslaw, Miotla Pawel, Bartnik Ewa
Second Department of Gynecology, Lublin University School of Medicine, 20-954 Lublin, Poland.
Oncol Rep. 2006 Nov;16(5):1041-5.
Somatic mitochondrial DNA (mtDNA) mutations have been found in a subset of endometrial cancers (EC) from different populations. We have investigated the relationship between mtDNA changes and clinical and pathological variables of women affected by EC. mtDNA mutations were detected both in early (3/32; 9%) and in advanced (1/8; 12%) stages of uterine tumors. However, patients carrying the mtDNA mutations or the normal mtDNA sequence had indistinguishable clinicopathological data, including age, clinical stage, histological grade and type or depth of myometrial invasion. It is noteworthy that mtDNA mutations were not detected in hyperplastic endometrial tissues or in ECs coexisting with hyperplasia, nor in a single case of endometrial stromal sarcoma. LOH at the tumor suppressor genes RB1 and TP53 as well as p16INK4A alterations (LOH, gene deletion) were found in tumors carrying mtDNA mutations. These results suggest that somatic mtDNA mutations are detected in a subset of ECs, although they are unrelated to clinicopathological variables of cancer.
在来自不同人群的一部分子宫内膜癌（EC）中发现了体细胞线粒体DNA（mtDNA）突变。我们研究了mtDNA变化与受EC影响女性的临床和病理变量之间的关系。在子宫肿瘤的早期（3/32；9%）和晚期（1/8；12%）阶段均检测到mtDNA突变。然而，携带mtDNA突变或正常mtDNA序列的患者在临床病理数据上没有差异，包括年龄、临床分期、组织学分级、类型或肌层浸润深度。值得注意的是，在增生性子宫内膜组织或与增生并存的EC中未检测到mtDNA突变，在单个子宫内膜间质肉瘤病例中也未检测到。在携带mtDNA突变的肿瘤中发现了肿瘤抑制基因RB1和TP53的杂合性缺失（LOH）以及p16INK4A改变（LOH、基因缺失）。这些结果表明，在一部分EC中检测到了体细胞mtDNA突变，尽管它们与癌症的临床病理变量无关。
