The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program.
The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program.
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DOI：
10.1186/1897-4287-8-9
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发表时间：
2010-11-22
影响因子：
1.7
通讯作者：
Baker MJ
中科院分区：
文献类型：
--
作者：
Mukherjee A;McGarrity TJ;Ruggiero F;Koltun W;McKenna K;Poritz L;Baker MJ
1996年，美国国家癌症研究所主办了一个国际研讨会，以制定标准，以确定结直肠癌患者谁应该提供微卫星不稳定性（MSI）测试，由于遗传性非息肉病性结直肠癌（HNPCC）的风险增加。这些标准在2004年进一步修改，并被称为修订后的贝塞斯达指南。我们的研究旨在回顾性评估2004年诊断为HNPCC肿瘤的患者的百分比，这些患者符合MSI检测的修订Bethesda标准，并在我们的机构内进行遗传咨询。2004年诊断的所有HNPCC肿瘤都是通过访问内部数据库CoPath确定的。访问肿瘤登记处和患者的电子病历，以收集所有相关的家族史信息。符合至少一个修订后的贝塞斯达标准的患者名单，他们是MSI检测的候选人，然后与我们机构内遗传咨询的患者数据库进行交叉引用。在2004年期间，我们的机构共诊断出380例HNPC相关肿瘤，其中41例（10.7%）符合至少一项修订的Bethesda标准。这些患者中有8例（19.5%）被转介接受癌症遗传咨询，其中2例（25%）由遗传学专业人员进行咨询。最终，2004年只有4.9%的符合MSI检测条件的患者接受了遗传咨询。这项回顾性研究确定了一些内部和外部的障碍，这些障碍阻碍了HNPCC患者的识别，从而限制了适当管理这些高风险家庭的能力。
In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI) testing due to an increased risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC). These criteria were further modified in 2004 and became known as the revised Bethesda Guidelines. Our study aimed to retrospectively evaluate the percentage of patients diagnosed with HNPCC tumors in 2004 who met revised Bethesda criteria for MSI testing, who were referred for genetic counseling within our institution. All HNPCC tumors diagnosed in 2004 were identified by accessing CoPath, an internal database. Both the Tumor Registry and patients' electronic medical records were accessed to collect all relevant family history information. The list of patients who met at least one of the revised Bethesda criteria, who were candidates for MSI testing, was then cross-referenced with the database of patients referred for genetic counseling within our institution. A total of 380 HNPCC-associated tumors were diagnosed at our institution during 2004 of which 41 (10.7%) met at least one of the revised Bethesda criteria. Eight (19.5%) of these patients were referred for cancer genetic counseling of which 2 (25%) were seen by a genetics professional. Ultimately, only 4.9% of patients eligible for MSI testing in 2004 were seen for genetic counseling. This retrospective study identified a number of barriers, both internal and external, which hindered the identification of individuals with HNPCC, thus limiting the ability to appropriately manage these high risk families.