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Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling

Lopez-Nunez, Oscar and Alaggio, Rita and John, Ivy and Ciolfi, Andrea and Pedace, Lucia and Mastronuzzi, Angela and Gianno, Francesca and Giangaspero, Felice and Rossi, Sabrina and Donofrio, Vittoria and Cinalli, Giuseppe and Surrey, Lea F. and Tartaglia, Marco and Locatelli, Franco and Miele, Evelina (2021) Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation Profiling. Cancers, 13 (4). p. 706. ISSN 2072-6694

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Abstract

MNTI is a rare tumor of indeterminate histogenesis and molecular signature. We performed methylation and copy number variation (CNV) profiles in patients with MNTI (n = 7) and PAT (n = 1) compared to the methylation brain tumor classifier v11b4 (BT-C) and the medulloblastoma (MB) classifier group 3/4 v1.0 (MB3/4-C). The patients’ mean age was 8 months (range: 4–48). The BT-C classified five MNTIs and one PAT (relapse) as class family MB-G3/G4, subclass group 3 (score: >0.9). The remaining two MNTIs and PAT (primary) were classified as class family plexus tumor, subclass pediatric (scores: >0.45). The MB3/4-C classified all MNTIs as high-risk MB-G3, Subtype II (score: >0.45). The primary PAT was classified as subtype III (score: 0.99) and its relapse as subtype II/III. MNTI and PAT clustered close to MB-G3. CNV analysis showed multiple rearrangements in one PAT and two MNTIs. The median follow-up was 54 months (four MNTIs in remission, one PAT died). In conclusion, we demonstrated that MNTI shares a homogenous methylation profile with MB-G3, and possibly with PAT. The role of a multipotent progenitor cell (i.e., early cranial neural crest cell) in their histogenesis and the influence of the anatomical site, tumor microenvironment, and other cytogenetic events in their divergent biologic behavior deserve further investigation.


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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Lopez-Nunez, Oscar
Alaggio, Rita
John, Ivyivj4@pitt.eduivj4
Ciolfi, Andrea
Pedace, Lucia
Mastronuzzi, Angela
Gianno, Francesca
Giangaspero, Felice
Rossi, Sabrina
Donofrio, Vittoria
Cinalli, Giuseppe
Surrey, Lea F.
Tartaglia, Marco
Locatelli, Franco
Miele, Evelina
Date: 9 February 2021
Date Type: Publication
Journal or Publication Title: Cancers
Volume: 13
Number: 4
Publisher: MDPI AG
Page Range: p. 706
DOI or Unique Handle: 10.3390/cancers13040706
Schools and Programs: School of Medicine > Pathology
Refereed: Yes
Uncontrolled Keywords: melanotic neuroectodermal tumor, melanotic progonoma, medulloblastoma, pineal anlage tumor, DNA methylation, copy number variation
ISSN: 2072-6694
Official URL: http://dx.doi.org/10.3390/cancers13040706
Funders: Italian Ministry of Health Ricerca Corrente, Department of Pathology Research Funds, University of Pittsburgh Medical Center, The Department of Pathology, The Children’s Hospital of Philadelphia
Article Type: Research Article
Date Deposited: 08 Jun 2021 17:28
Last Modified: 08 Jun 2021 17:28
URI: http://d-scholarship.pitt.edu/id/eprint/41262

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