{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:10:00Z","timestamp":1760832600360,"version":"build-2065373602"},"reference-count":69,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T00:00:00Z","timestamp":1760572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Direktorat Riset dan Pengabdian Masyarakat Universitas Indonesia","award":["PUTI NKB-306\/UN2.RST\/HKP.05.00\/2024"],"award-info":[{"award-number":["PUTI NKB-306\/UN2.RST\/HKP.05.00\/2024"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background\/Objectives: Lower-grade gliomas, particularly IDH-mutant astrocytomas, represent a distinct molecular subtype with unique therapeutic challenges. Whole-genome sequencing (WGS) plays a crucial role in uncovering genetic alterations that drive glioma pathogenesis and therapeutic resistance. This study identifies and evaluates a novel GATA2 p.Arg396Trp mutation in a clinical sample of lower-grade glioma, assessing its structural impact and implications for drug binding. Methods: A WHO Grade II astrocytoma specimen from a 33-year-old female patient was analyzed using WGS with Oxford Nanopore sequencing, followed by comprehensive bioinformatics processing to identify genomic variants. The GATA2 p.Arg396Trp mutation was evaluated using protein modeling, structural analysis, and pathogenicity prediction tools. Drug affinity analysis was conducted using molecular docking simulations to assess the computational impact of the mutation on drug binding. Results: The GATA2 p.Arg396Trp mutation was identified as a computationally predicted pathogenic variant, potentially disrupting protein interactions within critical functional domains. Structural analysis revealed altered binding dynamics with key anti-neoplastic agents, suggesting potential implications for therapeutic response. These findings represent computational predictions requiring experimental validation. Conclusions: Our preliminary findings suggest a potential role of the GATA2 p.Arg396Trp mutation in lower-grade glioma pathogenesis. The mutation predicted impact on transcriptional regulation and drug affinity suggests GATA2 as a possible biomarker candidate. Extensive experimental validation in larger patient cohorts is needed to establish clinical relevance and explore targeted therapeutic strategies.<\/jats:p>","DOI":"10.3390\/cancers17203338","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T12:17:02Z","timestamp":1760617022000},"page":"3338","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2834-9090","authenticated-orcid":false,"family":"Handoko","sequence":"first","affiliation":[{"name":"Department of Radiation Oncology, Cipto Mangunkusumo National General Hospital, Jakarta 10430, Indonesia"},{"name":"Faculty of Medicine, Universitas Indonesia, Jakarta 10430, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4698-7501","authenticated-orcid":false,"given":"Vincent","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Cipto Mangunkusumo National General Hospital, Jakarta 10430, Indonesia"},{"name":"Faculty of Medicine, Universitas Indonesia, Jakarta 10430, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eka","family":"Susanto","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo Hospital, Jakarta 10430, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5135-6256","authenticated-orcid":false,"given":"Renindra Ananda","family":"Aman","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Faculty of Medicine, Universitas Indonesia, Dr. Cipto Mangunkusumo General National Hospital, Jakarta 10430, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9728-5046","authenticated-orcid":false,"given":"Didik Setyo","family":"Heriyanto","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Dr. Sardjito General Hospital, Yogyakarta 55284, Indonesia"},{"name":"Collaboration Research Center for Precision Oncology Based Omics\u2014PKR PrOmics, Yogyakarta 55284, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9446-4361","authenticated-orcid":false,"given":"Soehartati A.","family":"Gondhowiardjo","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Cipto Mangunkusumo National General Hospital, Jakarta 10430, Indonesia"},{"name":"Faculty of Medicine, Universitas Indonesia, Jakarta 10430, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1093\/neuonc\/noab106","article-title":"The 2021 WHO Classification of Tumors of the Central Nervous System: A Summary","volume":"23","author":"Louis","year":"2021","journal-title":"Neuro Oncol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"iii1","DOI":"10.1093\/neuonc\/noab200","article-title":"CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States","volume":"23","author":"Ostrom","year":"2014","journal-title":"Neuro-Oncol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"E6","DOI":"10.3171\/2014.10.FOCUS12367","article-title":"Survival and Low-Grade Glioma: The Emergence of Genetic Information","volume":"38","author":"Claus","year":"2015","journal-title":"Neurosurg. 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