Pathology
germ-line mutations of FGFR1
- in Pfeiffer syndrome (MIM.101600)
- in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
- in osteoglophonic dysplasia
- isolated trigonocephaly (MIM.190440)
- isolated trigonocephaly (MIM.190440)
fusion proteins in cellular proliferations
- BCR/FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
- CEP110/FGFR1 by t(8;9)(p12;q33) in stem cell myeloproliferative disorder (MPD) (CEP1 at 9q33 and FGFR1 at 8p12) (10688839)
FGFR1 over-expression in rhabdomyosarcomas
- by FGFR1 amplification (8p11 amplification) in pleomorphic rhabdomyosarcoma (PRMS) (16790082)
- by hypomethylation(17696196)
FGFR1 is a marker of human prostate cancer progression (17137506)
bFGF, FGFR1, and FGFR2 are frequently overexpressed in squamous cell carcinoma and adenocarcinoma of the lung.
- bFGF signaling pathway activation may be an early phenomenon in the pathogenesis of squamous cell carcinoma and thus an attractive novel target for lung cancer chemopreventive and therapeutic strategies. (18829480)
See also
References
References
Immunohistochemical expression of basic fibroblast growth factor and fibroblast growth factor receptors 1 and 2 in the pathogenesis of lung cancer. Behrens C, Lin HY, Lee JJ, Raso MG, Hong WK, Wistuba II, Lotan R. Clin Cancer Res. 2008 Oct 1;14(19):6014-22. PMID: 18829480
Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, Suh B, Choi JR. 8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. Cancer Genet Cytogenet. 2008 Mar;181(2):93-9. PMID: 18295660
Guasch, G.; Mack, G. J.; Popovici, C.; Dastugue, N.; Birnbaum, D.; Rattner, J. B.; Pebusque, M.-J. : FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33). Blood 95: 1788-1796, 2000. PubMed ID : 10688839
Goldstein M, Meller I, Orr-Urtreger A. FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5’ CpG Island and abnormal expression of the AKT1, NOG, and BMP4 genes. Genes Chromosomes Cancer. 2007 Aug 15; PMID: 17696196
Devilard E, Bladou F, Ramuz O, Karsenty G, Dales JP, Gravis G, Nguyen C, Bertucci F, Xerri L, Birnbaum D. FGFR1 and WT1 are markers of human prostate cancer progression. BMC Cancer. 2006 Nov 30;6:272. PMID: 17137506