PDF(Pubmed)
Abstract：
We present 2 cases of cancer of unknown origin in which RNA-based cancer classification testing provided vital insight and directed treatment management. The tissue of origin could not be determined in both of these patients utilizing morphology and immunohistochemical analysis of the tissue samples. Next-generation sequencing and tumor-of-origin testing using an RNA-based molecular cancer classifier were performed to elucidate the possible tissue of origin. A 61-year-old male with a history of localized basal cell carcinoma presented with a 4.4-cm axillary lymph node in addition to upper extremity edema and supraclavicular lymphadenopathy. RNA-based tumor origin testing revealed skin basal or squamous cell carcinoma as the likely tissue of origin, with a probability of 97%. He received vismodegib, a hedgehog inhibitor, after progression on cemiplimab and experienced a partial response by RECIST criteria, which is currently ongoing for over a year. A 74-year-old female patient with a remote history of ovarian cancer for which she underwent resection and adjuvant chemotherapy presented 15 years later with abdominal pain. The diagnostic workup revealed a 2-cm pancreatic mass and enlarged peritoneal lymph nodes. RNA sequencing revealed a 99% likelihood of the tissue of origin being serous ovarian carcinoma. Subsequently, she underwent surgery and adjuvant chemotherapy and is currently in remission with letrozole maintenance. Genomic data already plays a crucial role in therapeutic decision-making for individuals with cancer. These cases highlight the complementary role of genomic data in the diagnostic workup of cancer, leading to favorable patient outcomes.
摘要：
我们介绍了2例未知起源的癌症，其中基于RNA的癌症分类测试提供了重要的见解和指导的治疗管理。利用组织样品的形态学和免疫组织化学分析不能在这两个患者中确定起源的组织。使用基于RNA的分子癌症分类器进行下一代测序和肿瘤起源测试以阐明可能的起源组织。一名61岁的男性，有局部基底细胞癌的病史，除上肢水肿和锁骨上淋巴结病外，还伴有4.4厘米的腋窝淋巴结。基于RNA的肿瘤起源检测显示皮肤基底细胞癌或鳞状细胞癌可能是起源组织，概率为97%。他收到了vismodegib,刺猬抑制剂,在cemiplimab进展后，通过RECIST标准出现部分反应，目前正在进行一年多。一名74岁的女性患者，有遥远的卵巢癌病史，她接受了切除和辅助化疗，15年后出现腹痛。诊断检查显示2厘米的胰腺肿块和腹膜淋巴结肿大。RNA测序显示，来源组织为浆液性卵巢癌的可能性为99％。随后，她接受了手术和辅助化疗，目前正在接受来曲唑维持治疗。基因组数据已经在癌症患者的治疗决策中起着至关重要的作用。这些病例突出了基因组数据在癌症诊断检查中的补充作用，导致良好的患者结果。
