ArticleVirchows Archiv : an international journal of pathology2024
Case report of a pediatric medulloblastoma with concurrent MYC and MYCN subclonal amplification in distinct populations of neoplastic cells.
Article in Virchows Archiv : an international journal of pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
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7 authors at 3 institutions in 1 country.
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Abstract
Medulloblastomas (MDBs) are classified into molecular groups showing peculiar immunohistochemical and genetic features and distinct DNA methylation profile. Group 3 and group 4 MDBs have the worst prognosis; the former is treated with high-risk protocols and features MYC amplification, whereas the latter receives standard-risk protocols and harbors MYCN amplification. Herein, we report a unique case of MDB showing histological and immunohistochemical features consistent with non-SHH/non-WNT classic MDB, with both MYCN (30% of tumor cells) and MYC (5-10% tumor cells) amplification in distinct subclones of neoplastic cells at fluorescence in situ hybridization (FISH), characterized by specific patterns. In spite of MYC amplification in only a small percentage of tumor cells, this case had DNA methylation profile consistent with group 3, emphasizing the importance to test both MYC and MYCN amplifications at a single cell level using highly sensitive methods, such as FISH, for diagnostic and therapeutic purposes.
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