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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

Genetic profiling of a chondroblastoma-like osteosarcoma/malignant phosphaturic mesenchymal tumor of bone reveals a homozygous deletion of CDKN2A, intragenic deletion of DMD, and a targetable FN1-FGFR1 gene fusion

Author

  • Karim H Saba
  • Louise Cornmark
  • Marianne Rissler
  • Thoas Fioretos
  • Kristina Åström
  • Felix Haglund
  • Andrew E Rosenberg
  • Otte Brosjö
  • Karolin H Nord

Summary, in English

Conventional osteosarcoma is the most common primary malignancy of bone. This group of neoplasms is subclassified according to specific histological features, but hitherto there has been no correlation between subtype, treatment, and prognosis. By in-depth genetic analyses of a chondroblastoma-like osteosarcoma, we detect a genetic profile that is distinct from those previously reported in benign and malignant bone tumors. The overall genomic copy number profile was less complex than that typically associated with conventional osteosarcoma, and there was no activating point mutation in any of H3F3A, H3F3B, IDH1, IDH2, BRAF, or GNAS. Instead, we found a homozygous CDKN2A deletion, a DMD microdeletion and an FN1-FGFR1 gene fusion. The latter alteration has been described in phosphaturic mesenchymal tumor. This tumor type shares some morphological features with chondroblastoma-like osteosarcoma and we cannot rule out that the present case actually represents an FN1-FGFR1 positive malignant phosphaturic mesenchymal tumor of bone without osteomalacia.

Department/s

  • Genetic chaos in aggressive cancer
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Division of Clinical Genetics
  • Translational Genomic and Functional Studies of Leukemia

Publishing year

2019-05-08

Language

English

Pages

731-736

Publication/Series

Genes, Chromosomes and Cancer

Volume

58

Issue

10

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Cancer and Oncology
  • Medical Genetics

Status

Published

Research group

  • Genetic chaos in aggressive cancer
  • Translational Genomic and Functional Studies of Leukemia

ISBN/ISSN/Other

  • ISSN: 1045-2257