Division of Hematology/Oncology, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Clin Colorectal Cancer. 2012 Mar;11(1):77-81. doi: 10.1016/j.clcc.2011.05.007. Epub 2011 Aug 2.
Hepatocelluar carcinoma (HCC) has rarely been associated with familial adenomatosis polyposis (FAP). Between 1950 and 2011, only a few cases of HCC associated with classic FAP have been reported in the medical literature. Here, we report the first case to our knowledge of HCC associated with attenuated FAP (aFAP). The patient possessed a single nucleotide mutation in the noncoding region after exon 4, which is rarely observed in attenuated FAP, and not previously reported in classic FAP–associated HCC. Our patient underwent liver transplantation for a 22-cm-large HCC (in China), however, her HCC recurred 1.5 years after the transplantation. Here we review the medical literature on FAP and HCC, with a particular focus on the role of the Wnt/APC/-catenin pathway toward a better understanding of HCC pathogenesis.
肝细胞癌 (HCC) 很少与家族性腺瘤性息肉病 (FAP) 相关。在 1950 年至 2011 年期间，仅在医学文献中报道了少数与经典 FAP 相关的 HCC 病例。在这里，我们报告首例已知与衰减型 FAP (aFAP) 相关的 HCC。该患者在 4 号外显子后存在非编码区的单个核苷酸突变，这种突变在衰减型 FAP 中很少见，也未曾在经典 FAP 相关 HCC 中报道过。我们的患者因 22 厘米大的 HCC（在中国）接受了肝移植，但 HCC 在移植后 1.5 年复发。在这里，我们回顾了 FAP 和 HCC 的医学文献，特别关注 Wnt/APC/-catenin 通路在更好地理解 HCC 发病机制中的作用。
