Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.
Blood. 2019 Jun 6;133(23):2478-2483. doi: 10.1182/blood-2019-01-852350. Epub 2019 Mar 11.
The molecular causes of many inherited platelet disorders are being unraveled. Next-generation sequencing facilitates diagnosis in 30% to 50% of patients. However, interpretation of genetic variants is challenging and requires careful evaluation in the context of a patient's phenotype. Before detailed testing is initiated, the treating physician and patient should establish an understanding of why testing is being performed and discuss potential consequences, especially before testing for variants in genes associated with an increased risk for hematologic malignancies.
许多遗传性血小板疾病的分子病因正在被揭示。下一代测序技术可使 30%至 50%的患者得到诊断。然而，遗传变异的解读具有挑战性，需要在患者表型的背景下进行仔细评估。在开始详细检测之前，治疗医生和患者应了解进行检测的原因，并讨论潜在的后果，尤其是在检测与血液恶性肿瘤风险增加相关的基因变异之前。
