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
(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
- 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
- organization
- publishing date
- 2019-05-08
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Genes, Chromosomes and Cancer
- volume
- 58
- issue
- 10
- pages
- 731 - 736
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:85065969084
- pmid:31066955
- 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
- 2024-09-17 23:29:14
@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 Inc.}}, 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}}, }