A Rare Case of Osteosarcoma in an Individual with the Recurrent n.64_65insT Variant in the <i>RNU</i><i>4-2</i> Gene
Background: Variants in the RNU4-2 gene are one of the most common autosomal causes of Neurodevelopmental Disorders (NDD). Despite the increased recognition of their clinical impact, associated malignancies have not been previously reported. Case Findings: We present a male patient with the most common RNU4-2 gene variant, n.64_65insT. At age 21, he was diagnosed with Osteosarcoma (OS), a condition not previously reported in affected individuals, and died 5 months later. Clinical Implication: This unique case expands the phenotype of RNU4-2-related neurodevelopmental disorder and highlights the importance of screening for cancer-related symptoms in patients with RNU4-2 gene variants.
Authors
- Anna Bonfitto (ORCID: https://orcid.org/0009-0001-5796-5167)
- Sampathkumar Rangasamy (ORCID: https://orcid.org/0000-0003-2151-9162)
- Josh Lowry (ORCID: https://orcid.org/0000-0003-3671-469X)
- Michael N. Pham (ORCID: https://orcid.org/0000-0002-5698-9335)
- Ali Crawford
- D.G. Hernandez
- Matthew J. Huentelman (ORCID: https://orcid.org/0000-0001-7390-9918)
- Vinodh Narayanan (ORCID: https://orcid.org/0000-0002-0658-3847)
- Samuel P. Strom (ORCID: https://orcid.org/0000-0003-3254-7564)
- Newell Belnap (ORCID: https://orcid.org/0009-0003-8868-5891)
- Akanchha Kesari (ORCID: https://orcid.org/0000-0003-4201-901X)
- Richard Wang (ORCID: https://orcid.org/0000-0003-3442-0559)
- Hannah Haas
- Marcus Naymik
- Keri Ramsey
- Jon Albay
Publication Details
- Journal
- Case Reports in Clinical Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.4236/crcm.2025.149064
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00