Pathology
constitutional activating mutations in
- several autosomal dominant craniosynostosis syndromes
- Crouzon craniosynostosis with acanthosis nigricans
- Muenke syndrome (coronal craniosynostosis)
- Saethre-Chotzen syndrome
- Beare-Stevenson syndrome
- chondrodysplasias
- hypochondroplasia (MIM.146000)
- achondroplasia (MIM.100800)
- SADDAN dysplasia
- skeletal dysplasia with acanthosis nigricans
-
thanatophoric dysplasia
-
thanatophoric dysplasia type 1 (MIM.187600)
- thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia (17375526)
-
thanatophoric dysplasia type 1 (MIM.187600)
- thanatophoric dysplasia type 2 (MIM.187601)
- acanthosis nigricans
activating somatic mutations in
- vesical urothelial carcinoma (bladder carcinoma or bladder urothelial carcinoma)
- myeloma
- colorectal adenocarcinoma
- uterine cervical carcinoma (15869706)
- seborrheic keratosis (39%) (15772091)
FGFR3-IGH rearrangements by t(4;14)(p16;q32) in
- plasma cell leukemia
- multiple myeloma
- plasmacytoma
- monoclonal gammopathy of unknown significance (MGUS)
FGFR3 mutations indicate better survival in invasive upper urinary tract and bladder tumours. (18584939)
Models
human immortalized chondrocytes carrying heterozygous FGFR3 mutations (17507011)
See also
References
FGFR3 mutations indicate better survival in invasive upper urinary tract and bladder tumours. van Oers JM, Zwarthoff EC, Rehman I, Azzouzi AR, Cussenot O, Meuth M, Hamdy FC, Catto JW. Eur Urol. 2009 Mar;55(3):650-7. PMID: 18584939
Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? Genet Couns. 2006;17(4):407-12. PMID: 17375526
Logie A, Dunois-Larde C, Rosty C, Levrel O, Blanche M, Ribeiro A, Gasc JM, Jorcano J, Werner S, Sastre-Garau X, Thiery JP, Radvanyi F. Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. Hum Mol Genet. 2005 May 1;14(9):1153-60. PMID: 15772091
Related Articles, Links
Hafner C, Hartmann A, van Oers JM, Stoehr R, Zwarthoff EC, Hofstaedter F, Landthaler M, Vogt T. FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization. Mod Pathol. 2007 Aug;20(8):895-903. Epub 2007 Jun 22. PMID: 17585316
Hafner C, Hartmann A, Vogt T.FGFR3 mutations in epidermal nevi and seborrheic keratoses: lessons from urothelium and skin. J Invest Dermatol. 2007 Jul;127(7):1572-3. PMID: 17568799
Hafner C, Hartmann A, Real FX, Hofstaedter F, Landthaler M, Vogt T.Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses.J Invest Dermatol. 2007 Aug;127(8):1883-5. PMID: 17392824
Hernández S, Toll A, Baselga E, Ribé A, Azua-Romeo J, Pujol RM, Real FX. Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors.J Invest Dermatol. 2007 Jul;127(7):1664-6. PMID: 17255960
Hafner C, Vogt T, Hartmann A. FGFR3 mutations in benign skin tumors. Cell Cycle. 2006 Dec;5(23):2723-8. PMID: 17172848
Hafner C, van Oers JM, Hartmann A, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Vogt T. High frequency of FGFR3 mutations in adenoid seborrheic keratoses. J Invest Dermatol. 2006 Nov;126(11):2404-7. PMID: 16778799
Bernard-Pierrot I, Brams A, Dunois-Lardé C, Caillault A, Diez de Medina SG, Cappellen D, Graff G, Thiery JP, Chopin D, Ricol D, Radvanyi F. Oncogenic properties of the mutated forms of fibroblast growth factor receptor 3b. Carcinogenesis. 2006 Apr;27(4):740-7. PMID: 16338952
Logié A, Dunois-Lardé C, Rosty C, Levrel O, Blanche M, Ribeiro A, Gasc JM, Jorcano J, Werner S, Sastre-Garau X, Thiery JP, Radvanyi F. Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. Hum Mol Genet. 2005 May 1;14(9):1153-60. PMID: 15772091