Dixit Ruhi, Pandey Manoj, Tripathi Sunil Kumar, Dwivedi Amit Nandan Dhar, Shukla Vijay Kumar
Department of General Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, 221 005, India.
Department of Surgical Oncology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Dig Dis Sci. 2017 Mar;62(3):708-714. doi: 10.1007/s10620-016-4438-1. Epub 2017 Jan 5.
Gallbladder cancer has high incidence in northeastern India; mortality too is high as the disease is often diagnosed late. Numerous studies have shown the role of sonic hedgehog (shh) in different cancers, an important ligand of the hedgehog signaling pathway.
This study was carried out to evaluate the shh gene mutations in gallbladder cancer patients.
PCR-SSCP was performed for shh gene in 50 samples each of gallbladder cancer, cholelithiasis, and control. The samples showing aberration in banding pattern were sequenced.
Variation in banding pattern was observed in 20% gallbladder cancer cases, 10% in cholelithiasis, and none of the control (χ = 11.111; p < 0.05). Sequencing results revealed seven novel point mutations in GBC cases. These novel mutations were found to be associated with histopathology (p < 0.05) and stage (p < 0.05) of gallbladder cancer.
This study reveals several novel individual and repetitive mutations of shh gene in GBC and cholelithiasis samples that may be used as diagnostic markers for gallbladder carcinogenesis.
胆囊癌在印度东北部发病率很高；由于该病常常在晚期才被诊断出来，所以死亡率也很高。大量研究表明，音猬因子（shh）作为刺猬信号通路的一种重要配体，在不同癌症中发挥作用。
本研究旨在评估胆囊癌患者中的shh基因突变情况。
对50份胆囊癌、胆结石及对照样本分别进行shh基因的PCR-SSCP检测。对条带模式出现异常的样本进行测序。
在20%的胆囊癌病例中观察到条带模式变异，胆结石病例中为10%，对照样本中未观察到（χ = 11.111；p < 0.05）。测序结果显示胆囊癌病例中有7种新的点突变。这些新突变被发现与胆囊癌的组织病理学（p < 0.05）和分期（p < 0.05）相关。
本研究揭示了胆囊癌和胆结石样本中shh基因的几种新的个别和重复性突变，这些突变可作为胆囊癌发生的诊断标志物。
