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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 KH, Cornmark L, Rissler M, Fioretos T, Åström K, Haglund F, Rosenberg AE, Brosjö O, Nord KH. Saba KH, et al. Genes Chromosomes Cancer. 2019 Oct;58(10):731-736. doi: 10.1002/gcc.22764. Epub 2019 May 15. Genes Chromosomes Cancer. 2019. PMID: 31066955
NTRK fusions in osteosarcoma are rare and non-functional events.
Ameline B, Saba KH, Kovac M, Magnusson L, Witt O, Bielack S, Nathrath M, Nord KH, Baumhoer D. Ameline B, et al. Among authors: saba kh. J Pathol Clin Res. 2020 Apr;6(2):107-112. doi: 10.1002/cjp2.158. Epub 2020 Feb 5. J Pathol Clin Res. 2020. PMID: 32022484 Free PMC article.
Clonal competition within complex evolutionary hierarchies shapes AML over time.
Sandén C, Lilljebjörn H, Orsmark Pietras C, Henningsson R, Saba KH, Landberg N, Thorsson H, von Palffy S, Peña-Martinez P, Högberg C, Rissler M, Gisselsson D, Lazarevic V, Juliusson G, Ågerstam H, Fioretos T. Sandén C, et al. Among authors: saba kh. Nat Commun. 2020 Feb 5;11(1):579. doi: 10.1038/s41467-019-14106-0. Nat Commun. 2020. PMID: 32024830 Free PMC article.
Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma.
Saba KH, Cornmark L, Hofvander J, Magnusson L, Nilsson J, van den Bos H, Spierings DC, Foijer F, Staaf J, Brosjö O, Sumathi VP, Lam SW, Szuhai K, Bovée JV, Kovac M, Baumhoer D, Styring E, Nord KH. Saba KH, et al. J Pathol Clin Res. 2020 Oct;6(4):231-237. doi: 10.1002/cjp2.172. Epub 2020 Jun 16. J Pathol Clin Res. 2020. PMID: 32542935 Free PMC article.
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.
Saba KH, Difilippo V, Kovac M, Cornmark L, Magnusson L, Nilsson J, van den Bos H, Spierings DC, Bidgoli M, Jonson T, Sumathi VP, Brosjö O, Staaf J, Foijer F, Styring E, Nathrath M, Baumhoer D, Nord KH. Saba KH, et al. J Pathol. 2024 Feb;262(2):147-160. doi: 10.1002/path.6219. Epub 2023 Nov 27. J Pathol. 2024. PMID: 38010733
11 results