FGFR3 germline mutations cause autosomal dominant skeletal disorders including achondroplasia, thanatophoric dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans, and Crouzon syndrome. Somatic mutations of FGFR3 have been identified in bladder cancer, multiple myeloma, and other neoplasms. FGFR3 mutations have also been detected in 40% of seborrheic keratoses (SKs) of the hyperkeratotic and acanthotic subtype, which are very common benign skin tumors. Using a multiplex SNaPshot assay that covers 11 activating FGFR3 mutations, we investigated a series of 27 SKs of the adenoid subtype. Mutations were detected in 23 of 27 (85%) adenoid SKs. R248C mutations were the most frequent mutation type. In two SKs, the A393E mutation was found, which has not been described in acanthotic and hyperkeratotic SKs so far. Three adenoid SKs displayed two simultaneous FGFR3 mutations. Adenoid SKs seem to be characterized by a higher frequency of FGFR3 mutations than hyperkeratotic and acanthotic SKs. The mechanism for the high rate of somatic FGFR3 mutations in these benign skin tumors remains elusive, but UV light exposure may play a potential role, especially in the R248C mutations.
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Kwon, OS
Hwang, EJ
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Hwang, EJ
Bae, JH
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Bae, JH
Park, HE
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Park, HE
Lee, JC
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Lee, JC
Youn, JI
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Youn, JI
Chung, JH
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
机构:
St James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, EnglandSt James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, England
L'Hôte, CGM
Knowles, MA
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St James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, EnglandSt James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, England
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
Naski, MC
Wang, Q
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
Wang, Q
Xu, JS
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
Xu, JS
Ornitz, DM
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
机构:
Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Kwon, OS
Hwang, EJ
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Hwang, EJ
Bae, JH
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Bae, JH
Park, HE
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h-index: 0
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Park, HE
Lee, JC
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h-index: 0
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Lee, JC
Youn, JI
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h-index: 0
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
Youn, JI
Chung, JH
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Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South KoreaSeoul Natl Univ, Coll Med, Seoul Natl Univ Hosp,Clin Res Inst, Lab Cutaneous Aging Res,Dept Dermatol, Seoul, South Korea
机构:
St James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, EnglandSt James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, England
L'Hôte, CGM
Knowles, MA
论文数: 0引用数: 0
h-index: 0
机构:
St James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, EnglandSt James Univ Hosp, Canc Res UK Clin Ctr, Leeds LS9 7TF, W Yorkshire, England
机构:
WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
Naski, MC
Wang, Q
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
Wang, Q
Xu, JS
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA
Xu, JS
Ornitz, DM
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WASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USAWASHINGTON UNIV, SCH MED, DEPT MOLEC BIOL & PHARMACOL, ST LOUIS, MO 63110 USA