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Diagnostic and Prognostic Implications of GNAS Inactivation in Sonic Hedgehog-Activated Medulloblastoma: Case Report with Comprehensive Molecular Profiling and Review of Literature
Journal article   Peer reviewed

Diagnostic and Prognostic Implications of GNAS Inactivation in Sonic Hedgehog-Activated Medulloblastoma: Case Report with Comprehensive Molecular Profiling and Review of Literature

E. Goode, L. Montoya, E. Graham, B. Pruniski, C. Simmons, A. Ngwube, L.M. Hoffman, N. Tiwari, K. Aldape, H.N. Price, …
JCO Precision Oncology, Vol.6
2022
DOI: https://doi.org/10.1200/PO.21.00403

Abstract

beta catenin carboplatin cisplatin cyclophosphamide etoposide gab1 protein genomic DNA protein p53 sonic hedgehog protein thiotepa transcription factor Yap1 unclassified drug vincristine, Article ataxia autologous stem cell transplantation bioinformatics bone marrow suppression brain hernia brain tissue cancer combination chemotherapy cancer diagnosis cancer prognosis case report cerebellar tonsillar herniation cerebrospinal fluid cytology clinical article congenital hypothyroidism copy number variation dermatology desmoplastic medulloblastoma developmental delay DNA extraction drug megadose dysphagia frameshift mutation gene gene fusion gene inactivation GNAS gene head tilting heterozygosity loss high throughput sequencing histopathology human human tissue immunohistochemistry indel mutation induction chemotherapy infant laryngoplasty lethargy male medulloblastoma microsatellite instability molecular fingerprinting mucosa inflammation multiple cycle treatment muscle hypotonia nuclear magnetic resonance imaging obstructive hydrocephalus oropharyngeal dysphagia perception deafness posterior fossa single nucleotide polymorphism skin biopsy subcutaneous nodule trabecular bone tumor mutational burden vocal cord paralysis vomiting
SHH medulloblastoma from GNAS mutation (molecular profiling confirmation) with osteoma cutis & syndromic features. © American Society of Clinical Oncology.

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