Urso E, Pucciarelli S, Agostini M, Maretto I, Mescoli C, Bertorelle R, Viel A, Rugge M, Nitti D
Clinica Chirurgica II, University of Padova, via Giustiniani 2, Padua, Italy.
Int J Colorectal Dis. 2008 Aug;23(8):801-6. doi: 10.1007/s00384-008-0484-2. Epub 2008 Apr 30.
The Bethesda guidelines suggest to perform microsatellite instability (MSI) test in early onset rectal cancer and not in patients>50 years with proximal colon cancer. The aim of the study was to evaluate whether the risk of high MSI (MSI-H) is greater in proximal colon cancer of patients 51-60 years old than in early-onset rectal cancer.
Consecutive colorectal cancer (CRC) patients were evaluated. Tumor location, cancer family history, MSI status and histology were recorded. Mutations in MLH1/MSH2 were investigated in MSI-H tumors. Patients were subdivided into groups: group A, proximal colon cancer patients 51-60 years old and groups B, C and D, patients<or=50 years old, with rectal cancer, proximal and distal colon cancer, respectively.
Out of 409 CRC patients evaluated, 48 (12%) showed tumors with MSI-H. No MSI-H tumors were found in distal and rectal tumors of patients at sixth decade of life. Group A included 27 patients, eight (29.7%) MSI-H cancers, four missense mutations in MLH1/MSH2; groups B, C and D included 26, 11 and 11 patients with two (7.7%), two (18%) and two (18%) MSI-H cancers, respectively. One missense mutation on MSH2 in group B, one pathogenetic mutation on MSH1 in group C and one pathogenetic mutation on MSH2 in group D were found. Tumors of group A showed an increased probability to have MSI-H if compared to those of group B (OD=4.907, p=0.043).
The Bethesda criteria should be broadened to include patients 51-60 years old with proximal colon cancer.
贝塞斯达指南建议对早发性直肠癌进行微卫星不稳定性(MSI)检测,而50岁以上的近端结肠癌患者则无需检测。本研究的目的是评估51至60岁近端结肠癌患者的高微卫星不稳定性(MSI-H)风险是否高于早发性直肠癌患者。
对连续性结直肠癌(CRC)患者进行评估。记录肿瘤位置、癌症家族史、MSI状态和组织学情况。对MSI-H肿瘤进行MLH1/MSH2突变检测。患者分为几组:A组为51至60岁的近端结肠癌患者,B、C、D组分别为年龄≤50岁的直肠癌、近端结肠癌和远端结肠癌患者。
在评估的409例CRC患者中,48例(12%)显示为MSI-H肿瘤。在60岁左右患者的远端和直肠肿瘤中未发现MSI-H肿瘤。A组包括27例患者,8例(29.7%)为MSI-H癌症,MLH1/MSH2中有4个错义突变;B、C、D组分别包括26、11和11例患者,MSI-H癌症分别为2例(7.7%)、2例(18%)和2例(18%)。在B组的MSH2上发现1个错义突变,在C组的MSH1上发现1个致病突变,在D组的MSH2上发现1个致病突变。与B组相比,A组肿瘤出现MSI-H的概率增加(比值比=4.907,p=0.043)。
应扩大贝塞斯达标准,将51至60岁的近端结肠癌患者纳入其中。