Tranø G, Wasmuth H H, Sjursen W, Hofsli E, Vatten L J
Department of Gastrointestinal Surgery, Hamar Hospital, Sykehuset Innlandet Hospital Trust, Hamar, Norway.
Colorectal Dis. 2009 Jun;11(5):456-61. doi: 10.1111/j.1463-1318.2009.01830.x. Epub 2009 Mar 11.
The assessment of family history and medical data is crucial in identifying families with Lynch syndrome (LS). Among consecutive colorectal cancer (CRC) patients, we aimed at identifying all patients with a hereditary predisposition, and to study a possible discrepancy with assessments made by the responsible clinicians.
All consecutively diagnosed patients with CRC from two Norwegian hospitals were included, and information on family history was collected in a detailed interview. We assessed information in medical records, and tumours were examined for LS-associated histopathological features.
Among 562 patients, there was no documentation of family history in 388 (69.0%) medical records, and in 174 (31.0%) patients, there was no clinical assessment of the information that was collected on family history. Based on detailed interviews and extended pathological examination, we found that 137 (24.4%) of the 562 patients could be classified as possible LS according to the Revised Bethesda Guidelines (RBG); and that 46 (33.6%) of these patients could be identified by family history alone.
Family history and relevant information in patient records can identify patients with possible LS. However, clinicians often fail to include information on hereditary factors and to assess relevant data in medical records. Familial CRC is therefore not acknowledged, and genetic counselling is not offered.
评估家族史和医疗数据对于识别林奇综合征(LS)家族至关重要。在连续的结直肠癌(CRC)患者中,我们旨在识别所有具有遗传易感性的患者,并研究与责任临床医生所做评估之间可能存在的差异。
纳入来自两家挪威医院所有连续诊断的CRC患者,并通过详细访谈收集家族史信息。我们评估了病历中的信息,并检查肿瘤是否具有与LS相关的组织病理学特征。
在562例患者中,388例(69.0%)的病历中没有家族史记录,174例(31.0%)患者的家族史信息没有进行临床评估。基于详细访谈和扩大的病理检查,我们发现,根据修订的贝塞斯达指南(RBG),562例患者中有137例(24.4%)可归类为可能的LS;其中46例(33.6%)仅通过家族史即可识别。
家族史和患者记录中的相关信息可以识别可能患有LS的患者。然而,临床医生常常未纳入遗传因素信息,也未评估病历中的相关数据。因此,家族性CRC未得到认可,也未提供遗传咨询。