Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-06-07

AUTHORS

Christian Koelsche, Martin Mynarek, Daniel Schrimpf, Luca Bertero, Jonathan Serrano, Felix Sahm, David E. Reuss, Yanghao Hou, Daniel Baumhoer, Christian Vokuhl, Uta Flucke, Iver Petersen, Wolfgang Brück, Stefan Rutkowski, Sandro Casavilca Zambrano, Juan Luis Garcia Leon, Rosdali Yesenia Diaz Coronado, Manfred Gessler, Oscar M. Tirado, Jaume Mora, Javier Alonso, Xavier Garcia del Muro, Manel Esteller, Dominik Sturm, Jonas Ecker, Till Milde, Stefan M. Pfister, Andrey Korshunov, Matija Snuderl, Gunhild Mechtersheimer, Ulrich Schüller, David T. W. Jones, Andreas von Deimling

ABSTRACT

Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%). In addition, 17/22 (77%) sarcomas exhibited alterations in the mitogen-activated protein kinase pathway, most frequently affecting the mutational hotspots of KRAS (8/22; 36%) and mutations or deletions of NF1 (7/22; 32%), followed by mutations of FGFR4 (2/22; 9%), NRAS (2/22; 9%), and amplification of EGFR (1/22; 5%). A germline DICER1 mutation was detected in two of five cases with constitutional DNA available. Notably, none of the patients showed evidence of a cancer-related syndrome at the time of diagnosis. In contrast to the genetic findings, the morphological features of these tumors were less distinctive, although rhabdomyoblasts or rhabdomyoblast-like cells could retrospectively be detected in all cases. The identified combination of genetic events indicates a relationship between the intracranial tumors analyzed and DICER1 predisposition syndrome-associated sarcomas such as embryonal rhabdomyosarcoma or the recently described group of anaplastic sarcomas of the kidney. However, the intracranial tumors in our series were initially interpreted to represent various tumor types, but rhabdomyosarcoma was not among the typical differential diagnoses considered. Given the rarity of intracranial sarcomas, this molecularly clearly defined group comprises a considerable fraction thereof. We therefore propose the designation “spindle cell sarcoma with rhabdomyosarcoma-like features, DICER1 mutant” for this intriguing group. More... »

PAGES

327-337

References to SciGraph publications

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  • Journal

    TITLE

    Acta Neuropathologica

    ISSUE

    2

    VOLUME

    136

    Author Affiliations

  • Department of General Pathology, Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany
  • Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany
  • Pathology Unit, Department of Medical Sciences, University of Turin, Turin, Italy
  • Department of Pathology, New York University School of Medicine, New York, USA
  • Department of Neuropathology, Institute of Pathology, Heidelberg University Hospital, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany
  • Bone Tumour Reference Centre, Institute of Pathology, Basel University Hospital, Basel, Switzerland
  • Department of Pediatric Pathology, University Hospital of Schleswig-Holstein, Kiel, Germany
  • Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands
  • Institute of Pathology, SRH Poliklinik Gera GmbH, Gera, Germany
  • Institute of Neuropathology, University Medical Center, Göttingen, Germany
  • Department of Pathology, Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Peru
  • Department of Pediatric Oncology, Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Peru
  • Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, Würzburg University, Würzburg, Germany
  • Molecular Oncology Lab, Sarcoma Research Group, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain
  • Department of Pediatric Onco-Hematology and Developmental Tumor Biology Laboratory, Hospital Sant Joan de Déu, Barcelona, Catalonia, Spain
  • Pediatric Solid Tumor Laboratory, Human Genetic Department, Research Institute of Rare Diseases, Instituto de Salud Carlos III (ISCIII), Madrid, Spain
  • Oncology Department, ICO-IDIBELL, Barcelona, Spain
  • Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, Spain
  • Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany
  • Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), Heidelberg, Germany
  • Children’s Cancer Center Hamburg, Research Institute, Hamburg, Germany
  • Pediatric Glioma Research Group, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00401-018-1871-6

    DOI

    http://dx.doi.org/10.1007/s00401-018-1871-6

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1104450174

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29881993


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    36 schema:description Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine rhabdomyosarcomas sharing identical features were identified. Gene panel sequencing of the 22 intracranial sarcomas revealed the almost unifying feature of DICER1 hotspot mutations (21/22; 95%) and a high frequency of co-occurring TP53 mutations (12/22; 55%). In addition, 17/22 (77%) sarcomas exhibited alterations in the mitogen-activated protein kinase pathway, most frequently affecting the mutational hotspots of KRAS (8/22; 36%) and mutations or deletions of NF1 (7/22; 32%), followed by mutations of FGFR4 (2/22; 9%), NRAS (2/22; 9%), and amplification of EGFR (1/22; 5%). A germline DICER1 mutation was detected in two of five cases with constitutional DNA available. Notably, none of the patients showed evidence of a cancer-related syndrome at the time of diagnosis. In contrast to the genetic findings, the morphological features of these tumors were less distinctive, although rhabdomyoblasts or rhabdomyoblast-like cells could retrospectively be detected in all cases. The identified combination of genetic events indicates a relationship between the intracranial tumors analyzed and DICER1 predisposition syndrome-associated sarcomas such as embryonal rhabdomyosarcoma or the recently described group of anaplastic sarcomas of the kidney. However, the intracranial tumors in our series were initially interpreted to represent various tumor types, but rhabdomyosarcoma was not among the typical differential diagnoses considered. Given the rarity of intracranial sarcomas, this molecularly clearly defined group comprises a considerable fraction thereof. We therefore propose the designation “spindle cell sarcoma with rhabdomyosarcoma-like features, DICER1 mutant” for this intriguing group.
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