分子生物学研究为罕见的软组织肉瘤提供了新的线索
遗传分析揭示了恶性外周神经鞘肿瘤的生物标志物和可能的药物靶点。
纪念斯隆-凯特琳最近的一项研究表明，新的方法来控制恶性外周神经鞘的肿瘤（恶性周围神经鞘膜瘤），一种罕见的软组织肉瘤攻击型。这些肿瘤的主要治疗方法是神经周围的结缔组织，是外科手术。但当手术是不可行的，由于肿瘤的位置，或因为它已经扩散到身体的其他部位，有几个选项是可用的。
研究人员分析了这些肿瘤的遗传变化，发现可能导致疾病&mdash更准确的诊断和新的治疗方法；以及可以通过相似的遗传变化驱动其他癌症的治疗。这项研究最近发表在自然遗传学。
寻找生物标志物
MPNSTs are difficult to diagnose accurately because the tumors tend to be histologically diverse, meaning they can look very different from each other under the microscope。 Adding to this diversity, the tumors often have complex rearrangement of their chromosomes。 There are also a lack of biomarkers — molecules that can be measured in tumors to help diagnose disease。
“Therefore, our findings really surprised us,” says MSK physician-scientist Ping Chi, the study’s senior author。 “We found that despite all of the clinical and histopathological differences between these tumors and the complex chromosomal rearrangements, this is actually a relatively ‘pure’ disease, with the majority of them having the same three central tumor suppressor pathways inactivated。” Tumor suppressor pathways are biochemical processes in cells that prevent tumors from forming; when inactivated, they can lead to cancer。
回到顶部靶向治疗的潜力
Now that the investigators understand more about the genetic changes inside these tumors, they have a diagnostic biomarker that can be used for more accurate diagnosis going forward。 There are also therapeutics already in clinical and preclinical development that address these particular genetic changes。
“Future therapies that focus on these pathways may benefit not only patients with MPNSTs but also other patients who have diseases associated with similar genetic changes, including pediatric glioma brain tumors and certain kinds of acute lymphocytic leukemia that preferentially inactivate one of these pathways,” says Dr。 Chi, who is a medical oncologist and a researcher in the Human Oncology and Pathogenesis Program。
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