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

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

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)731-736
Number of pages6
JournalGenes Chromosomes and Cancer
Volume58
Issue number10
DOIs
StatePublished - Oct 2019

Keywords

  • DNA mate-pair sequencing
  • RNA sequencing
  • SNP array
  • bone tumor
  • chondroblastoma
  • fusion gene
  • next generation sequencing
  • sarcoma

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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