molecular sequencing

  • 文章类型: Case Reports
    胃肠道间质瘤(GIST)是胃肠道中最常见的间质瘤,最常见于胃部。晚期GIST患者的标准治疗包括手术切除和伊马替尼治疗。已有病例记录了伊马替尼治疗前原发性GIST和伊马替尼治疗后复发性GIST患者的组织形态学改变。然而,在伊马替尼治疗后,没有文献记载的一例患者原发部位GIST复发伴软骨样分化.在这篇文章中,我们报告了一名58岁患者的偶然发现,该患者在胃内复发性GIST手术切除前接受了两种伊马替尼治疗.我们还通过小型文献综述探讨了已报道的具有软骨样分化的GIST的各种病例,以比较组织形态学。免疫表型,以及这些病例的患者人口统计。这篇文章对于报道伊马替尼治疗后GIST的罕见发现具有重要意义,并强调了伊马替尼治疗后GIST可能获得的各种表现,这些表现排除了另一个恶性过程。如软骨肉瘤。
    Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor in the gastrointestinal tract and is most commonly seen in the stomach. The standard treatment for patients with advanced GISTs include both surgical resection and imatinib therapy. There have been cases that document the alterations of patients\' GIST histomorphology both with primary GIST prior to imatinib therapy and with recurrent GIST after imatinib therapy. However, there has been no documented case of a patient who has recurrent GIST with chondroid differentiation at the primary site after imatinib therapy. In this article, we report an incidental finding of a 58-year-old patient who had two treatments of imatinib therapy prior to surgical resection of her recurrent GIST in her stomach. We also explore through a mini-literature review the various cases of GIST with chondroid differentiation that have been reported to compare the histomorphology, immunophenotype, and patient demographic of these cases. This article is significant for reporting a rare finding of GIST after imatinib therapy and highlights the various presentations that GIST could acquire after imatinib therapy that exclude another malignant process, such as chondrosarcoma.
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  • 文章类型: Case Reports
    辐射诱导的神经胶质瘤(RIG)是一种罕见的疾病类型,是中枢神经系统辐射暴露的长期并发症,经常在童年。鉴于这种恶性肿瘤亚型的罕见性,没有临床试验探索这些患者的最佳治疗方法,文献主要限于患者病例和系列的报告。的确,RIG的基因组图谱最近才被有限的数量探索,将这些神经胶质瘤分类为一个独特的子集。这里,我们描述了两例RIG诊断为胶质母细胞瘤(GB),IDH-野生型,在以前接受过中枢神经系统辐射治疗儿童癌症的成年人中。两名患者均表现出令人惊讶的术后残留病对一线治疗的完全影像学反应,在任何GB的管理中很少观察到这种现象,并且以前从未报道过辐射诱导的亚组。两种肿瘤均通过下一代测序和染色体微阵列进行表征,以确定这种反应的潜在病因,并进一步增加有关RIG独特分子谱的有限文献。表现出与弥漫性儿科型高级别神经胶质瘤更一致的特征,H3-野生型,和IDH-野生型,世卫组织4级。最终,我们证明,尽管历史上在治疗该疾病方面存在局限性,但在先前接受过辐射的组织中使用基于辐射的方案对GB进行治疗是非常成功的.
    Radiation-induced gliomas (RIGs) are an uncommon disease type and a known long-term complication of prior central nervous system radiation exposure, often during childhood. Given the rarity of this malignancy subtype, no clinical trials have explored optimal therapy for these patients, and the literature is primarily limited to reports of patient cases and series. Indeed, the genomic profiles of RIGs have only recently been explored in limited numbers, categorizing these gliomas into a unique subset. Here, we describe two cases of RIG diagnosed as glioblastoma (GB), IDH-wildtype, in adults who had previously received central nervous system radiation for childhood cancers. Both patients demonstrated a surprising complete radiographic response of the postoperative residual disease to front-line therapy, a phenomenon rarely observed in the management of any GB and never previously reported for the radiation-induced subgroup. Both tumors were characterized by next-generation sequencing and chromosomal microarray to identify potential etiologies for this response as well as to further add to the limited literature about the unique molecular profile of RIGs, showing signatures more consistent with diffuse pediatric-type high-grade glioma, H3-wildtype, and IDH-wildtype, WHO grade 4. Ultimately, we demonstrate that treatment utilizing a radiation-based regimen for GB in a previously radiated tissue can be highly successful despite historical limitations in the management of this disease.
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