Promises and Pitfalls of Whole Exome Sequencing in Therapy-Resistant Chronic Thrombocytopenia in Childhood: A Case Report.

backgroundThe etiological diagnosis of chronic thrombocytopenia in children remains challenging and is often established by exclusion. In this article, we present the case of a patient in whom we used whole-exome sequencing (WES) to help identify the underlying cause and determine the appropriate treatment.

methodsWhole-exome sequencing was performed to clarify the genetic background of the disease. Based on the results, transmission electron microscopy (TEM) was also carried out to confirm or exclude the pathogenic role of the identified

resultsIn this patient, despite the presence of the

conclusionsOur case highlights that WES testing, which is emerging in pediatric hematology practice, offers not only diagnostic advantages but also pitfalls. Whole-exome sequencing has recently emerged as a new diagnostic tool and has been available nationwide in pediatric hematology-oncology care in Hungary for just over two years. While personalized treatment strategies for benign hematologic diseases increasingly rely on high-throughput genetic testing, the clinical application of WES requires a cautious, critical evaluation of results. Despite the method's promise, the heterogeneity of the findings underscores the need to interpret WES results carefully and to place them in a clinical context in every case.