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Odontogenic Myxomas Harbor Recurrent Copy Number Alterations and a Distinct Methylation Signature.
Kleijn, Tony G; Ameline, Baptiste; Schreuder, Willem H; Kooistra, Wierd; Doff, Jan J; Witjes, Max; Pichardo, Sarina E C; Lausová, Tereza; Koppes, Sjors A; van den Hout, Mari F C M; van Engen-van Grunsven, Ilse C H; Flucke, Uta E; de Lange, Jan; Szuhai, Karoly; Briaire-de Bruijn, Inge H; Savci-Heijink, Dilara C; Suurmeijer, Albert J H; Bovée, Judith V M G; von Deimling, Andreas; Baumhoer, Daniel; Cleven, Arjen H G.
Afiliación
  • Kleijn TG; Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, Netherlands.
  • Ameline B; Bone Tumor Reference Center, Institute for Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
  • Schreuder WH; Department of Oral and Maxillofacial Surgery, Amsterdam University Medical Center and Academic Center for Dentistry, University of Amsterdam, Amsterdam, Netherlands.
  • Kooistra W; Department of Head and Neck Surgery and Oncology, Antoni van Leeuwenhoek, Amsterdam, Netherlands.
  • Doff JJ; Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, Netherlands.
  • Witjes M; Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, Netherlands.
  • Pichardo SEC; Department of Oral and Maxillofacial Surgery/Head and Neck Surgery, University Medical Center, Groningen, Netherlands.
  • Lausová T; Department of Oral and Maxillofacial Surgery/Head and Neck Surgery, University Medical Center, Groningen, Netherlands.
  • Koppes SA; Department of Neuropathology, Heidelberg University Medical Center, and CCU Neuropathology, German Cancer Center, DKFZ, Heidelberg, Germany.
  • van den Hout MFCM; Department of Pathology, Erasmus University Medical Center, Rotterdam.
  • van Engen-van Grunsven ICH; Department of Pathology, Maastricht University Medical Center, Maastricht.
  • Flucke UE; Department of Pathology, Radboud University Medical Center, Nijmegen.
  • de Lange J; Department of Pathology, Radboud University Medical Center, Nijmegen.
  • Szuhai K; Department of Oral and Maxillofacial Surgery, Amsterdam University Medical Center and Academic Center for Dentistry, University of Amsterdam, Amsterdam, Netherlands.
  • Briaire-de Bruijn IH; Department of Pathology, Leiden University Medical Center, Leiden, Netherlands.
  • Savci-Heijink DC; Department of Pathology, Leiden University Medical Center, Leiden, Netherlands.
  • Suurmeijer AJH; Department of Pathology, Amsterdam University Medical Center (location AMC), Amsterdam.
  • Bovée JVMG; Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, Netherlands.
  • von Deimling A; Department of Pathology, Leiden University Medical Center, Leiden, Netherlands.
  • Baumhoer D; Department of Neuropathology, Heidelberg University Medical Center, and CCU Neuropathology, German Cancer Center, DKFZ, Heidelberg, Germany.
  • Cleven AHG; Bone Tumor Reference Center, Institute for Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
Am J Surg Pathol ; 48(10): 1224-1232, 2024 Oct 01.
Article en En | MEDLINE | ID: mdl-39289817
ABSTRACT
Odontogenic myxoma is a rare, benign, and locally aggressive tumor that develops in the tooth-bearing areas of the jaw. The molecular mechanisms underlying odontogenic myxomas are unknown and no diagnostic markers are available to date. The aim of this study was to analyze DNA methylation and copy number variations in odontogenic myxomas to identify new molecular signatures for diagnostic decision-making. We collected a cohort of 16 odontogenic myxomas from 2006 to 2021 located in the mandible (n = 10) and maxilla (n = 6) with available formalin-fixed paraffin-embedded or fresh frozen tumor tissue from a biopsy or resection material. Genome-wide DNA methylation and copy number variation data were generated from 12 odontogenic myxomas using the Illumina Infinium Methylation EPIC array, interrogating >850,000 CpG sites. Unsupervised clustering and dimensionality reduction (Uniform Manifold Approximation and Projection) revealed that odontogenic myxomas formed a distinct DNA methylation class. Copy number profiling showed recurrent whole-chromosome gains (trisomies) of chromosomes 5, 8, and 20 in all cases, and of chromosomes 10, 12, and 17 in all except one case. In conclusion, odontogenic myxomas harbor recurrent copy number patterns and a distinct DNA methylation profile, which can be used as an additional diagnostic tool in the appropriate clinical and radiologic context. Further research is needed to explain the genetic mechanisms caused by these alterations that drive these locally aggressive neoplasms.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tumores Odontogénicos / Metilación de ADN / Variaciones en el Número de Copia de ADN Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Surg Pathol Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tumores Odontogénicos / Metilación de ADN / Variaciones en el Número de Copia de ADN Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Surg Pathol Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos