Gu Mi Jin, Bae Young Kyung, Kim Aeri, Hong Seung-Mo, Yu Eunsil, Kim Jihun, Jang Kee-Taek, Chang Hee-Kyung, Jung Eun Sun, Bae Han-Ik, Yoon Ghil Suk, Kim Joon Mee, Kim Jung Yeon, Kim Gwang Il, Oh Young-Ha, Jang Kyu Yun, Jun Sun-Young, Eom Dae Woon, Kwon Kye Won, Kang Gyeong Hoon, Park Jae Bok, Hong Soon Won, Jung Soo Jin, Lee Ji Shin
Department of Pathology, Yeungnam University College of Medicine, Daegu, Korea.
Hepatogastroenterology. 2012 Oct;59(119):2228-32. doi: 10.5754/hge11601.
BACKGROUND/AIMS: Although primary small intestinal carcinoma (SIC) is morphologically similar to colorectal carcinoma and shares many of the genetic changes of carcinogenesis, little is known about the role of defective mismatch repair (MMR) genes involved in the SIC. The aim of this study is to investigate the role of defective MMR genes and correlation between clinicopathological factors and loss of MMR protein in SIC.
A total of 195 SIC cases were collected from 20 institutions in Korea and tissue microarrays (TMA) were made. The loss of expression of hMLH1, hMSH2 and hMSH6 was examined by immunohistochemistry (IHC).
The loss of expression of hMLH1, hMSH2 and hMSH6 was identified in 25/193 (13.0%), 25/193 (13%) and 29/195 (15%), respectively. The loss of hMSH2 expression was associated with retroperitoneal seeding. Patients with loss of hMSH6 expression had a tendency to invade deeply and a higher frequency of pancreas invasion. The loss of hMSH6 expression was associated less frequently with peritumoral adenoma. There was no survival difference by MMR protein expression status.
The loss of MMR protein was associated with some distinct clinicopathological features. MMR pathway seems to be major pathway in carcinogenesis of SICs. MMR defect seems to be related with sporadic-microsatellite instability (MSI).
背景/目的：尽管原发性小肠癌（SIC）在形态学上与结直肠癌相似，且在致癌过程中存在许多共同的基因变化，但对于参与SIC的错配修复（MMR）基因缺陷的作用知之甚少。本研究的目的是探讨MMR基因缺陷的作用以及SIC中临床病理因素与MMR蛋白缺失之间的相关性。
从韩国20个机构收集了195例SIC病例，并制作了组织芯片（TMA）。通过免疫组织化学（IHC）检测hMLH1、hMSH2和hMSH6的表达缺失情况。
hMLH1、hMSH2和hMSH6的表达缺失分别在25/193（13.0%）、25/ (13%)和29/195 (15%)中被发现。hMSH2表达缺失与腹膜后种植有关。hMSH6表达缺失的患者有深部浸润的倾向，胰腺浸润的频率较高。hMSH6表达缺失与肿瘤周围腺瘤的相关性较低。MMR蛋白表达状态对生存率无差异。
MMR蛋白缺失与一些独特的临床病理特征有关。MMR途径似乎是SIC致癌的主要途径。MMR缺陷似乎与散发性微卫星不稳定性（MSI）有关。
