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A common single-nucleotide variant in T is strongly associated with chordoma.
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM. Pillay N, et al. Among authors: kindblom lg. Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064415
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study.
Presneau N, Shalaby A, Ye H, Pillay N, Halai D, Idowu B, Tirabosco R, Whitwell D, Jacques TS, Kindblom LG, Brüderlein S, Möller P, Leithner A, Liegl B, Amary FM, Athanasou NN, Hogendoorn PC, Mertens F, Szuhai K, Flanagan AM. Presneau N, et al. Among authors: kindblom lg. J Pathol. 2011 Feb;223(3):327-35. doi: 10.1002/path.2816. Epub 2010 Nov 24. J Pathol. 2011. PMID: 21171078
PRDM10-rearranged Soft Tissue Tumor: A Clinicopathologic Study of 9 Cases.
Puls F, Pillay N, Fagman H, Palin-Masreliez A, Amary F, Hansson M, Kindblom LG, McCulloch TA, Meligonis G, Muc R, Rissler P, Sumathi VP, Tirabosco R, Hofvander J, Magnusson L, Nilsson J, Flanagan AM, Mertens F. Puls F, et al. Among authors: kindblom lg. Am J Surg Pathol. 2019 Apr;43(4):504-513. doi: 10.1097/PAS.0000000000001207. Am J Surg Pathol. 2019. PMID: 30570551
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Pansuriya TC, et al. Among authors: kindblom lg. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004. Nat Genet. 2011. PMID: 22057234 Free PMC article.
Rarely metastasizing soft tissue tumours.
Mangham DC, Kindblom LG. Mangham DC, et al. Among authors: kindblom lg. Histopathology. 2014 Jan;64(1):88-100. doi: 10.1111/his.12310. Epub 2013 Nov 28. Histopathology. 2014. PMID: 24117966 Review.
Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions.
Hallor KH, Sciot R, Staaf J, Heidenblad M, Rydholm A, Bauer HC, Aström K, Domanski HA, Meis JM, Kindblom LG, Panagopoulos I, Mandahl N, Mertens F. Hallor KH, et al. Among authors: kindblom lg. J Pathol. 2009 Apr;217(5):716-27. doi: 10.1002/path.2513. J Pathol. 2009. PMID: 19199331
201 results