PMID- 37212894
OWN - NLM
STAT- Publisher
LR  - 20230522
IS  - 1432-2307 (Electronic)
IS  - 0945-6317 (Linking)
DP  - 2023 May 22
TI  - Case report of a pediatric medulloblastoma with concurrent MYC and MYCN subclonal 
      amplification in distinct populations of neoplastic cells.
LID - 10.1007/s00428-023-03560-3 [doi]
AB  - 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.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Minasi, Simone
AU  - Minasi S
AD  - Department of Radiological, Oncological and Anatomo-Pathological Sciences, 
      "Sapienza" University of Rome, Viale Regina Elena, 324-00161, Rome, Italy. 
      simone.minasi@uniroma1.it.
FAU - Gianno, Francesca
AU  - Gianno F
AD  - Department of Radiological, Oncological and Anatomo-Pathological Sciences, 
      "Sapienza" University of Rome, Viale Regina Elena, 324-00161, Rome, Italy.
FAU - Bargiacchi, Lavinia
AU  - Bargiacchi L
AD  - Department of Radiological, Oncological and Anatomo-Pathological Sciences, 
      "Sapienza" University of Rome, Viale Regina Elena, 324-00161, Rome, Italy.
FAU - Barresi, Valeria
AU  - Barresi V
AD  - Department of Diagnostics and Public Health, Section of Anatomic Pathology, 
      University of Verona, Verona, Italy.
FAU - Miele, Evelina
AU  - Miele E
AD  - Department of Oncology/Hematology, Gene and Cell Therapy and Hemopoietic 
      Transplant, Bambino Gesu Children's Hospital, IRCCS, Rome, Italy.
FAU - Antonelli, Manila
AU  - Antonelli M
AD  - Department of Radiological, Oncological and Anatomo-Pathological Sciences, 
      "Sapienza" University of Rome, Viale Regina Elena, 324-00161, Rome, Italy.
FAU - Buttarelli, Francesca Romana
AU  - Buttarelli FR
AD  - Department of Radiological, Oncological and Anatomo-Pathological Sciences, 
      "Sapienza" University of Rome, Viale Regina Elena, 324-00161, Rome, Italy.
LA  - eng
PT  - Journal Article
DEP - 20230522
PL  - Germany
TA  - Virchows Arch
JT  - Virchows Archiv : an international journal of pathology
JID - 9423843
SB  - IM
OTO - NOTNLM
OT  - FISH
OT  - MYC
OT  - MYCN
OT  - Medulloblastoma
OT  - Methylation profile
EDAT- 2023/05/22 13:04
MHDA- 2023/05/22 13:04
CRDT- 2023/05/22 11:06
PHST- 2023/03/17 00:00 [received]
PHST- 2023/05/10 00:00 [accepted]
PHST- 2023/03/17 00:00 [revised]
PHST- 2023/05/22 13:04 [medline]
PHST- 2023/05/22 13:04 [pubmed]
PHST- 2023/05/22 11:06 [entrez]
AID - 10.1007/s00428-023-03560-3 [pii]
AID - 10.1007/s00428-023-03560-3 [doi]
PST - aheadofprint
SO  - Virchows Arch. 2023 May 22. doi: 10.1007/s00428-023-03560-3.