Spinal Metastasis in a Patient with Supratentorial Glioblastoma with Primitive Neuronal Component: A Case Report with Clinical and Molecular Evaluation

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Publikace nespadá pod Filozofickou fakultu, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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HENDRYCH Michal SOLÁR Peter HERMANOVÁ Markéta SLABÝ Ondřej VALEKOVÁ Hana VEČEŘA Marek KOPKOVÁ Alena MACKERLE Zdeněk KAZDA Tomáš POSPÍŠIL Petr LAKOMÝ Radek CHRASTINA Jan ŠÁNA Jiří JANČÁLEK Radim

Rok publikování 2023
Druh Článek v odborném periodiku
Časopis / Zdroj Diagnostics
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.mdpi.com/2075-4418/13/2/181
Doi http://dx.doi.org/10.3390/diagnostics13020181
Klíčová slova glioblastoma; metastasis; NF1; NOTCH3; ARID1A; mutation
Přiložené soubory
Popis Glioblastoma (GBM) is regarded as an aggressive brain tumor that rarely develops extracranial metastases. Despite well-investigated molecular alterations in GBM, there is a limited understanding of these associated with the metastatic potential. We herein present a case report of a 43-year-old woman with frontal GBM with primitive neuronal component who underwent gross total resection followed by chemoradiation. Five months after surgery, the patient was diagnosed with an intraspinal GBM metastasis. Next-generation sequencing analysis of both the primary and metastatic GBM tissues was performed using the Illumina TruSight Tumor 170 assay. The number of single nucleotide variants observed in the metastatic sample was more than two times higher. Mutations in TP53, PTEN, and RB1 found in the primary and metastatic tissue samples indicated the mesenchymal molecular GBM subtype. Among others, there were two inactivating mutations (Arg1026Ile, Trp1831Ter) detected in the NF1 gene, two novel NOTCH3 variants of unknown significance predicted to be damaging (Pro1505Thr, Cys1099Tyr), one novel ARID1A variant of unknown significance (Arg1046Ser), and one gene fusion of unknown significance, EIF2B5-KIF5B, in the metastatic sample. Based on the literature evidence, the alterations of NF1, NOTCH3, and ARID1A could explain, at least in part, the acquired invasiveness and metastatic potential in this particular GBM case.
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