Unidad de Consejo Genético Este Castilla y León, Sección de Oncología Médica, Complejo Asistencial Universitario de Burgos, Hospital General Yagüe, Burgos, Spain.
Clin Transl Oncol. 2012 Apr;14(4):254-62. doi: 10.1007/s12094-012-0793-3.
Cancer risks and medical management of Lynch syndrome (LS) differ from other hereditary or familial clustering of colorectal cancer. Differential diagnosis has improved as a result of the growing clinical and molecular knowledge about LS. Appropriate application of these advances in several scenarios constitutes a decision-making process to further decide germ-line testing with accuracy and efficiency. However, an only molecular-screening algorithm, with a limited number of steps and choices, may be difficult to devise. How, when, where and at what expense to use the different diagnostic tools remain dynamic and changeable under different circumstances. From a clinical point of view, it is advisable to discuss conflicting aspects to guide LS diagnosis.
林奇综合征(LS)的癌症风险和医学管理与其他结直肠癌的遗传性或家族性聚集不同。随着对 LS 的临床和分子知识的不断增加,鉴别诊断得到了改善。在几种情况下适当应用这些进展构成了一个决策过程,以进一步准确有效地进行种系检测。然而,设计一个只有分子筛查算法,具有有限的步骤和选择,可能是困难的。如何、何时、何地以及以何种代价使用不同的诊断工具在不同的情况下仍然是动态和变化的。从临床的角度来看,讨论有争议的方面以指导 LS 诊断是明智的。