Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis

Martin Hasselblatt; Christian Thomas; Volker Hovestadt; Daniel Schrimpf; Pascal Johann; Susanne Bens; Florian Oyen; Susanne Peetz-Dienhart; Yvonne Crede; Annika Wefers; Hannes Vogel; Markus J Riemenschneider; Manila Antonelli; Felice Giangaspero; Marie Christine Bernardo; Caterina Giannini; Nasir Ud Din; Arie Perry; Kathy Keyvani; Frank van Landeghem; David Sumerauer; Peter Hauser; David Capper; Andrey Korshunov; David T W Jones; Stefan M Pfister; Reinhard Schneppenheim; Reiner Siebert; Michael C Frühwald; Marcel Kool

doi:10.1007/s00401-016-1574-9

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis

Acta Neuropathol. 2016 Jul;132(1):149-51. doi: 10.1007/s00401-016-1574-9. Epub 2016 Apr 11.

Authors

Martin Hasselblatt¹, Christian Thomas², Volker Hovestadt^{3

4}, Daniel Schrimpf^{4

5

6}, Pascal Johann^{4

7

8}, Susanne Bens⁹, Florian Oyen¹⁰, Susanne Peetz-Dienhart², Yvonne Crede², Annika Wefers^{4

5

6}, Hannes Vogel¹¹, Markus J Riemenschneider¹², Manila Antonelli^{13

14}, Felice Giangaspero^{13

14}, Marie Christine Bernardo¹⁵, Caterina Giannini¹⁶, Nasir Ud Din¹⁷, Arie Perry¹⁸, Kathy Keyvani¹⁹, Frank van Landeghem²⁰, David Sumerauer²¹, Peter Hauser²², David Capper^{4

5

6}, Andrey Korshunov^{4

5

6}, David T W Jones^{4

7}, Stefan M Pfister^{4

7

8}, Reinhard Schneppenheim¹⁰, Reiner Siebert⁹, Michael C Frühwald²³, Marcel Kool^{4

7}

Affiliations

¹ Institute of Neuropathology, University Hospital Münster, Pottkamp 2, 48149, Münster, Germany. martin.hasselblatt@ukmuenster.de.
² Institute of Neuropathology, University Hospital Münster, Pottkamp 2, 48149, Münster, Germany.
³ Division of Molecular Genetics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴ German Cancer Consortium (DKTK), Core Center Heidelberg, Heidelberg, Germany.
⁵ Department of Neuropathology, University Hospital Heidelberg, Heidelberg, Germany.
⁶ Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁷ Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁸ Department of Pediatric Oncology and Hematology, University Hospital Heidelberg, Heidelberg, Germany.
⁹ Institute of Human Genetics, Christian-Albrechts-University Kiel, Kiel, Germany.
¹⁰ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹¹ Department of Pathology, Stanford University School of Medicine, Palo Alto, CA, 94305, USA.
¹² Department of Neuropathology, Regensburg University Hospital, Regensburg, Germany.
¹³ Department of Radiology, Oncology and Anatomic-Pathology Sciences, Sapienza University, Rome, Italy.
¹⁴ IRCCS Neuromed, Pozzilli, IS, Italy.
¹⁵ Institute of Pathology, St. Luke's Medical Center, Quezon City, Philippines.
¹⁶ Department of Pathology, Mayo Clinic, Rochester, MN, USA.
¹⁷ Section of Histopathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan.
¹⁸ Division of Neuropathology, UCSF Medical Center, San Francisco, CA, USA.
¹⁹ Faculty of Medicine, Institute of Neuropathology, University of Duisburg-Essen, Essen, Germany.
²⁰ Division of Anatomical Pathology, Neuropathology Specialty Group, Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada.
²¹ Department of Pediatric Hematology and Oncology, University Hospital Motol, Charles University, 2nd Medical School, Prague, Czech Republic.
²² 2nd Department of Pediatrics, Semmelweis University, 1094, Budapest, Hungary.
²³ Swabian Childrens' Cancer Center, Childrens' Hospital Augsburg and EU-RHAB Registry, Augsburg, Germany.

PMID: 27067307
DOI: 10.1007/s00401-016-1574-9

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biomarkers, Tumor / genetics
Biomarkers, Tumor / metabolism
Brain Neoplasms / diagnosis
Brain Neoplasms / genetics
Brain Neoplasms / metabolism
Brain Neoplasms / pathology
Child
Child, Preschool
Chordoma / diagnosis*
Chordoma / genetics
Chordoma / metabolism*
Chordoma / pathology
Cluster Analysis
DNA Copy Number Variations
DNA Methylation*
Diagnosis, Differential
Female
Humans
Infant
Male
Prognosis
Rhabdoid Tumor / diagnosis
Rhabdoid Tumor / genetics
Rhabdoid Tumor / metabolism
Rhabdoid Tumor / pathology
SMARCB1 Protein / deficiency*
SMARCB1 Protein / genetics
Survival Analysis
Teratoma / diagnosis
Teratoma / genetics
Teratoma / metabolism
Teratoma / pathology

Substances

Biomarkers, Tumor
SMARCB1 Protein
SMARCB1 protein, human

Supplementary concepts

Teratoid Tumor, Atypical