Abstract:
The origin of tumors has been under discussion over the years. Different theories have been suggested to explain this phenomenon. Among them, the Cancer-Stem Cells model, is one of the most outstanding. In this study, we reported a case of a 72-year-old man who presented two histologically different tumors with a 7-years gap, a Penile Squamous Cell Carcinoma and a Pleomorphic Undifferentiated Sarcoma, that share some molecular features. Phonotypical differences were showed and confirmed at histological and IHC levels. Molecular analysis showed an HPV infection in the carcinoma. Additionally, sequencing results revealed common (CDKN2A and TERT) and exclusive (FBXW7 and TP53) genetic alterations in both tumors (Table 1). The possible germline origin of common mutations was discarded after negative germline testing. Here we describe, for the first time a clinical case of a possible origin of two histologically different tumors from a common ancestor based on molecular data. Even if different hypothesis appear as possible, the Cancer Stem Cell-based model appears as the most suitable.
摘要:
多年来,肿瘤的起源一直在讨论中。已经提出了不同的理论来解释这种现象。其中,癌症干细胞模型,是最杰出的之一。在这项研究中,我们报道了一例72岁的男性,他表现出两种组织学上不同的肿瘤,间隔7年,阴茎鳞状细胞癌和多形性未分化肉瘤,共享一些分子特征。在组织学和IHC水平上显示并证实了音型差异。分子分析显示癌中存在HPV感染。此外,测序结果揭示了两种肿瘤中的共同(CDKN2A和TERT)和排他性(FBXW7和TP53)遗传改变(表1)。在阴性种系测试后丢弃常见突变的可能种系起源。在这里我们描述,根据分子数据,首次发现两种组织学不同的肿瘤可能起源于共同祖先的临床病例。即使可能出现不同的假设,基于癌症干细胞的模型似乎是最合适的。