- Authors:
-
Minasi, Simone; Gianno, Francesca; Bargiacchi, Lavinia; Barresi, Valeria; Miele, Evelina; Antonelli, Manila; Buttarelli, Francesca Romana
- Title:
-
Case report of a pediatric medulloblastoma with concurrent MYC and MYCN subclonal amplification in distinct populations of neoplastic cells
- Year:
-
2024
- Type of item:
-
Articolo in Rivista
- Tipologia ANVUR:
- Articolo su rivista
- Language:
-
Inglese
- Referee:
-
No
- Name of journal:
- VIRCHOWS ARCHIV
- ISSN of journal:
- 0945-6317
- N° Volume:
-
485
- Number or Folder:
-
1
- :
- Springer Verlag Germany:Tiergartenstrasse 17, D 69121 Heidelberg Germany:011 49 6221 3450, EMAIL: g.braun@springer.de, INTERNET: http://www.springer.de, Fax: 011 49 6221 345229
- Page numbers:
-
153-158
- Keyword:
-
FISH; MYC; MYCN; Medulloblastoma; Methylation profile
- Short description of contents:
- : 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.
- Note:
- Epub 2023 May 22
- Product ID:
-
133936
- Handle IRIS:
-
11562/1094450
- Last Modified:
-
July 24, 2024
- Bibliographic citation:
-
Minasi, Simone; Gianno, Francesca; Bargiacchi, Lavinia; Barresi, Valeria; Miele, Evelina; Antonelli, Manila; Buttarelli, Francesca Romana,
Case report of a pediatric medulloblastoma with concurrent MYC and MYCN subclonal amplification in distinct populations of neoplastic cells
«VIRCHOWS ARCHIV»
, vol.
485
, n.
1
,
2024
,
pp. 153-158
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