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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

Saba, Karim H LU ; Cornmark, Louise LU ; Rissler, Marianne LU ; Fioretos, Thoas LU ; Åström, Kristina ; Haglund, Felix ; Rosenberg, Andrew E ; Brosjö, Otte and Nord, Karolin H LU (2019) In Genes, Chromosomes and Cancer 58(10). p.731-736
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... (More)

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.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Genes, Chromosomes and Cancer
volume
58
issue
10
pages
731 - 736
publisher
John Wiley & Sons
external identifiers
  • pmid:31066955
  • scopus:85065969084
ISSN
1045-2257
DOI
10.1002/gcc.22764
language
English
LU publication?
yes
additional info
© 2019 Wiley Periodicals, Inc.
id
c83e8e23-bbdc-45d3-b31f-e8ebf772f2d9
date added to LUP
2019-05-27 10:16:35
date last changed
2020-02-12 10:05:16
@article{c83e8e23-bbdc-45d3-b31f-e8ebf772f2d9,
  abstract     = {<p>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.</p>},
  author       = {Saba, Karim H and Cornmark, Louise and Rissler, Marianne and Fioretos, Thoas and Åström, Kristina and Haglund, Felix and Rosenberg, Andrew E and Brosjö, Otte and Nord, Karolin H},
  issn         = {1045-2257},
  language     = {eng},
  month        = {05},
  number       = {10},
  pages        = {731--736},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {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},
  url          = {http://dx.doi.org/10.1002/gcc.22764},
  doi          = {10.1002/gcc.22764},
  volume       = {58},
  year         = {2019},
}