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Supratentorial Sporadic Hemangioblastoma: A Case Report With Mutation Profiling Using Next-Generation DNA Sequencing
Mohiuddin M Taher1,2, Najwa A Bantan3, Mustafa H Alwalily4
1Science and Technology Unit, Deanship of Scientific Research, Umm Al-Qura University, Makkah, SAU.
Cureus
|June 5, 2023
Summary
Genomic analysis of intracranial hemangioblastoma (HBL) using next-generation DNA sequencing identified 67 variants across 41 genes. Novel mutations were found in NRAS, HNF1A, TP53, and SND1, offering potential therapeutic targets.
Area of Science:
- Genomics
- Oncology
- Molecular Biology
Background:
- Intracranial hemangioblastoma (HBL) is a rare tumor with incompletely understood genomic alterations.
- Understanding the genetic landscape of HBL is crucial for developing targeted therapies.
Observation:
- Next-generation DNA sequencing (NGS) was employed to analyze the genomic profile of sporadic HBL tumors.
- A total of 67 variants across 41 genes were identified, including single-nucleotide variants (SNVs), insertions/deletions (INDELs), and intronic variants.
Findings:
- Fifteen missense variants were identified, including novel mutations in NRAS (c.1_2insA) and HNF1A (c.745delT), both leading to termination codons.
- Novel variants were also discovered in TP53 (c.430C>G) and SND1 (c.1810G>C, c.1814G>C).
- Ten previously reported single-nucleotide polymorphisms (SNPs) were detected in genes such as MLH1, FGFR3, PDGFRA, KIT, APC, and RET.
Implications:
- The identification of novel mutations in NRAS, HNF1A, TP53, and SND1 provides new insights into HBL pathogenesis.
- These findings may pave the way for the development of novel targeted therapies for HBL.
- The study highlights the importance of comprehensive genomic profiling in identifying actionable mutations in rare tumors.
