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Linked-read Sequencing Analysis Reveals Tumor-specific Genome Variation Landscapes in Neurofibromatosis Type 2 (NF2) Patients.
Roberts, Daniel S; Maurya, Rahul; Takemon, Yuka; Vitte, Jeremie; Gong, Liang; Zhao, Juanjuan; Wong, Chee-Hong; Slattery, William; Peng, Kevin A; Lekovic, Gregory; Schwartz, Marc S; Bulsara, Ketan; Ngan, Chew Yee; Giovannini, Marco; Wei, Chia-Lin.
Afiliación
  • Roberts DS; School of Medicine, University of Connecticut.
  • Maurya R; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
  • Takemon Y; The Jackson Laboratory, Bar Harbor.
  • Vitte J; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, Maine.
  • Gong L; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA and Jonsson Comprehensive Cancer Center (JCCC), University of California, Los Angeles.
  • Zhao J; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
  • Wong CH; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
  • Slattery W; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
  • Peng KA; House Clinic and House Ear Institute, Los Angeles.
  • Lekovic G; House Clinic and House Ear Institute, Los Angeles.
  • Schwartz MS; House Clinic and House Ear Institute, Los Angeles.
  • Bulsara K; University of California, San Diego, San Diego, California.
  • Ngan CY; School of Medicine, University of Connecticut.
  • Giovannini M; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.
  • Wei CL; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA and Jonsson Comprehensive Cancer Center (JCCC), University of California, Los Angeles.
Otol Neurotol ; 40(2): e150-e159, 2019 02.
Article en En | MEDLINE | ID: mdl-30624408
HYPOTHESIS: We hypothesize that genomic variants including deletions, insertions, inversions, and tandem duplications beyond the changes in tumor suppressor NF2 gene affect gene expression of tumor-specific pathways in vestibular schwannomas (VS) patients with Neurofibromatosis type 2 (NF2), thus contributing to their clinical behavior. BACKGROUND: Genomic variation could reconfigure transcription in NF2 transformation process. Therefore, genome-wide high-resolution characterization of structural variants (SV) landscapes in NF2 tumors can expand our understanding of the genes regulating the clinical phenotypes in NF2-associated VS. METHODS: We performed whole-genome haplotype-specific structural variation analysis using synthetic linked reads generated through microfluidics-based barcoding of high molecular weight DNA followed by high-coverage Illumina paired-end whole-genome sequencing from 10 patients' tumors of different growth rates and their matching blood samples. RESULTS: NF2 tumor-specific deletions and large SVs were detected and can be classified based on their association with tumor growth rates. Through detailed annotation of these mutations, we uncover common alleles affected by these deletions and large SVs that can be associated with signaling pathways implicated in cell proliferation and tumorigenesis. CONCLUSION: The genomic variation landscape of NF2-related VS was investigated through whole-genome linked-read sequencing. Large SVs, in addition to deletions, were identified and may serve as modulators of clinical behavior.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuroma Acústico / Neurofibromatosis 2 Límite: Humans / Male Idioma: En Revista: Otol Neurotol Asunto de la revista: NEUROLOGIA / OTORRINOLARINGOLOGIA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neuroma Acústico / Neurofibromatosis 2 Límite: Humans / Male Idioma: En Revista: Otol Neurotol Asunto de la revista: NEUROLOGIA / OTORRINOLARINGOLOGIA Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos