Haas Roni, Patel Yash, Liu Lydia Y, Huang Rong Rong, Weiner Adam, Yamaguchi Takafumi N, Agrawal Raag, Boutros Paul C, Reiter Robert E
Department of Human Genetics, University of California, Los Angeles, USA.
Department of Urology, University of California, Los Angeles, USA.
medRxiv. 2024 Aug 23:2024.08.22.24312320. doi: 10.1101/2024.08.22.24312320.
Multifocal prostate cancer is a prevalent phenomenon, with most cases remaining uncharacterized from a genomic perspective. A patient presented with bilateral prostate cancer. On systematic biopsy, two indistinguishable clinicopathologic lesions were detected. Whole-genome sequencing displayed somatically unrelated tumours with distinct driver CNA regions, suggesting independent origins of the two tumors. We demonstrated that similar clinicopathologic multifocal tumours, which might be interpreted as clonal disease, can in fact represent independent cancers. Genetic prognostics can prevent mischaracterization of multifocal disease to enable optimal patient management.
多灶性前列腺癌是一种普遍现象，从基因组角度来看，大多数病例仍未得到充分表征。一名患者出现双侧前列腺癌。在系统活检中，检测到两个无法区分的临床病理病变。全基因组测序显示出体细胞无关的肿瘤，其驱动性拷贝数改变（CNA）区域不同，提示这两个肿瘤起源独立。我们证明，临床上看似相似的多灶性肿瘤，可能被解释为克隆性疾病，实际上可能代表独立的癌症。基因预后分析可以防止对多灶性疾病的错误表征，从而实现对患者的最佳管理。
