دورية أكاديمية
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases.
| العنوان: | PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases. |
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| المؤلفون: | Rossi S; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: sabrina2.rossi@opbg.net., Barresi S; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Colafati GS; Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Neuroscience, Imaging and Clinical Sciences (DNISC), University 'Gabriele D'Annunzio' of Chieti-Pescara, Chieti, Italy., Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Tancredi C; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Costabile V; Multimodal Research Area, Unit of Microbiology and Diagnostics in Immunology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Patrizi S; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Giovannoni I; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Asioli S; Department of Biomedical and Neuromotor Sciences (DIBINEM)-Surgical Pathology Section-Alma Mater Studiorum - University of Bologna, Bologna, Italy., Poliani PL; Pathology Unit, San Raffaele Hospital Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy., Gardiman MP; Surgical Pathology and Cytopathology Unit, Department of Medicine, University Hospital of Padua, Padua, Italy., Cardoni A; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Del Baldo G; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Antonelli M; Department of Radiology, Oncology and Anatomic Pathology, University La Sapienza, Rome, Italy., Gianno F; Department of Radiology, Oncology and Anatomic Pathology, University La Sapienza, Rome, Italy; IRCCS Neuromed, Pozzilli, Isernia, Italy., Piccirilli E; Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Neuroscience, Imaging and Clinical Sciences (DNISC), University 'Gabriele D'Annunzio' of Chieti-Pescara, Chieti, Italy., Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Martucci L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Quacquarini D; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Toni F; Neuroradiology Unit, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Melchionda F; SSD Oncoematologia Pediatrica, IRCCS AOU Policlinico S.Orsola, Bologna, Italy., Viscardi E; Department of Pediatrics, Azienda Ospedale-Università di Padova, Padova, Italy., Zucchelli M; Paediatric Neurosurgery, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Dal Pos S; Department of Radiology, Azienda Ospedale-Università di Padova, Padova, Italy., Gatti E; Department of Radiology, Neuroradiology Unit, ASST Spedali Civili University Hospital, Brescia, Italy., Liserre R; Department of Radiology, Neuroradiology Unit, ASST Spedali Civili University Hospital, Brescia, Italy., Schiavello E; Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Diomedi-Camassei F; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carai A; Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Mastronuzzi A; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Gessi M; Neuropathology Unit, Pathology Division, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica S.Cuore, Rome, Italy., Giannini C; Department of Biomedical and Neuromotor Sciences (DIBINEM)-Surgical Pathology Section-Alma Mater Studiorum - University of Bologna, Bologna, Italy; Department of Anatomic Pathology, Mayo Clinic, Rochester, Minnesota., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Onetti Muda A; Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Miele E; Onco-Hematology, Cell Therapy, Gene Therapies and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: evelina.miele@opbg.net., Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Alaggio R; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Medico-surgical Sciences and Biotechnologies, Sapienza University, Rome, Italy. |
| المصدر: | Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2024 Feb; Vol. 37 (2), pp. 100387. Date of Electronic Publication: 2023 Nov 23. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 8806605 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0285 (Electronic) Linking ISSN: 08933952 NLM ISO Abbreviation: Mod Pathol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : [New York] : Elsevier Inc. Original Publication: Baltimore, MD : Williams & Wilkins, c1988- |
| مواضيع طبية MeSH: | Chromothripsis* , Sarcoma*/genetics , Soft Tissue Neoplasms*/genetics, Humans ; Child ; Transcription Factors/genetics ; RNA-Binding Protein EWS/genetics ; Central Nervous System/pathology ; Transcriptome ; Repressor Proteins/genetics ; Kruppel-Like Transcription Factors/genetics |
| مستخلص: | PATZ1-rearranged sarcomas are well-recognized tumors as part of the family of round cell sarcoma with EWSR1-non-ETS fusions. Whether PATZ1-rearranged central nervous system (CNS) tumors are a distinct tumor type is debatable. We thoroughly characterized a pediatric series of PATZ1-rearranged CNS tumors by chromosome microarray analysis (CMA), DNA methylation analysis, gene expression profiling and, when frozen tissue is available, optical genome mapping (OGM). The series consisted of 7 cases (M:F=1.3:1, 1-17 years, median 12). On MRI, the tumors were supratentorial in close relation to the lateral ventricles (intraventricular or iuxtaventricular), preferentially located in the occipital lobe. Two major histologic groups were identified: one (4 cases) with an overall glial appearance, indicated as "neuroepithelial" (NET) by analogy with the corresponding methylation class (MC); the other (3 cases) with a predominant spindle cell sarcoma morphology, indicated as "sarcomatous" (SM). A single distinct methylation cluster encompassing both groups was identified by multidimensional scaling analysis. Despite the epigenetic homogeneity, unsupervised clustering analysis of gene expression profiles revealed 2 distinct transcriptional subgroups correlating with the histologic phenotypes. Interestingly, genes implicated in epithelial-mesenchymal transition and extracellular matrix composition were enriched in the subgroup associated to the SM phenotype. The combined use of CMA and OGM enabled the identification of chromosome 22 chromothripsis in all cases suitable for the analyses, explaining the physical association of PATZ1 to EWSR1 or MN1. Six patients are currently disease-free (median follow-up 30 months, range 12-92). One patient of the SM group developed spinal metastases at 26 months from diagnosis and is currently receiving multimodal therapy (42 months). Our data suggest that PATZ1-CNS tumors are defined by chromosome 22 chromothripsis as causative of PATZ1 fusion, show peculiar MRI features (eg, relation to lateral ventricles, supratentorial frequently posterior site), and, although epigenetically homogenous, encompass 2 distinct histologic and transcriptional subgroups. (Copyright © 2023 United States & Canadian Academy of Pathology. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: EWSR1::PATZ1; MN1::PATZ1; brain sarcomas; chromothripsis; gliosarcoma; optical genome mapping; pediatric brain tumors; ventricles |
| المشرفين على المادة: | 0 (Transcription Factors) 0 (RNA-Binding Protein EWS) 0 (PATZ1 protein, human) 0 (Repressor Proteins) 0 (Kruppel-Like Transcription Factors) |
| تواريخ الأحداث: | Date Created: 20231125 Date Completed: 20240226 Latest Revision: 20240226 |
| رمز التحديث: | 20240226 |
| DOI: | 10.1016/j.modpat.2023.100387 |
| PMID: | 38007157 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0285 |
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| DOI: | 10.1016/j.modpat.2023.100387 |