{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T16:00:09Z","timestamp":1785427209259,"version":"3.56.0"},"reference-count":20,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T00:00:00Z","timestamp":1777680000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research, Development and Innovation Office","award":["PD145889"],"award-info":[{"award-number":["PD145889"]}]},{"award":["PD145889"],"award-info":[{"award-number":["PD145889"]}],"id":[{"id":"https:\/\/ror.org\/03g2am276","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Hungarian Pediatric Oncology Network"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background: The 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. Methods: Whole-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 NBEAL2 gene variant and to assess the presence of gray platelet syndrome. Results: In this patient, despite the presence of the NBEAL2 gene variant, neither gray platelet syndrome nor a pathogenic role of the variant could be confirmed. However, the genetic findings identified by WES led to numerous additional investigations, causing a considerable burden on both the patient and the family. Conclusions: Our 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\u2019s 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.<\/jats:p>","DOI":"10.3390\/jpm16050248","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:12:09Z","timestamp":1777857129000},"page":"248","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Promises and Pitfalls of Whole Exome Sequencing in Therapy-Resistant Chronic Thrombocytopenia in Childhood: A Case Report"],"prefix":"10.3390","volume":"16","author":[{"given":"Eszter","family":"Gy\u00f6rke","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Markusovszky Teaching University Hospital, 9700 Szombathely, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e1bor","family":"Beny\u00f3","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Markusovszky Teaching University Hospital, 9700 Szombathely, Hungary"},{"name":"Pediatric Center, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8774-937X","authenticated-orcid":false,"given":"Krist\u00f3f Bal\u00e1zs","family":"\u00c1rvai","sequence":"additional","affiliation":[{"name":"HAS-SU Momentum Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0729-692X","authenticated-orcid":false,"given":"Csaba","family":"B\u00f6d\u00f6r","sequence":"additional","affiliation":[{"name":"HAS-SU Momentum Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Kereskai","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of P\u00e9cs Medical School, 7624 Pecs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajnalka","family":"\u00c1brah\u00e1m","sequence":"additional","affiliation":[{"name":"Istv\u00e1n \u00c1brah\u00e1m Nano-Bioimaging Center, Central Electron Microscopic Laboratory, University of P\u00e9cs Medical School, 7624 Pecs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"R\u00e9ger","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, University of P\u00e9cs Medical School, 7624 Pecs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8783-9025","authenticated-orcid":false,"given":"B\u00e1lint","family":"Egyed","sequence":"additional","affiliation":[{"name":"Pediatric Center, Semmelweis University, 1085 Budapest, Hungary"},{"name":"HAS-SU Momentum Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8990-6620","authenticated-orcid":false,"given":"G\u00e1bor","family":"Ott\u00f3ffy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of P\u00e9cs Medical School, 7624 Pecs, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,2]]},"reference":[{"key":"ref_1","first-page":"106076","article-title":"Hereditary thrombocytopenias: The challenge of increasing frequency and differential diagnosis","volume":"48","year":"2025","journal-title":"Hematol. 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