Abstract
The characteristics of sebaceous gland hyperplasia (SGH) consist of yellowish or skin-colored papules and nodules. Chronic sun exposure and immunosuppressed conditions are the main environmental risk factors, whereas chronological aging regulated by hormones and molecular changes are the intrinsic risk factors. We have evaluated the contribution of BRAF, K-Ras, and N-Ras mutations to the pathogenesis of SGHs in four patients belonging to three MYH-associated polyposis (MAP) pedigrees. MAP is an autosomal-recessive disease characterized by multiple colorectal adenomas and cancer. Immunohistochemistry of mismatch repair and APC proteins was performed. DNA isolated from blood lymphocytes and formalin-fixed or paraffin-embedded SGHs was PCR amplified and sequenced. In the SGH patients, we detected T1796A heterozygous substitution (V600E) in the BRAF gene. Compound biallelic germline MYH mutations (Y165C/G382D, R168H/379delC, and Y90X/delGGA464) were detected in the MAP patients. In contrast to the majority of melanocytic lesions, activating hotspot mutations in BRAF have not been involved so far in the pathogenesis of SGH. BRAF mutation is not a specific marker of melanocytic cancerogenesis, and it can also be involved in SGHs. In both melanocytic and non-melanocytic skin tumors, BRAF mutation is linked to early tumorigenesis events.
| Original language | English |
|---|---|
| Pages (from-to) | 1387-1391 |
| Number of pages | 5 |
| Journal | Journal of Investigative Dermatology |
| Volume | 127 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2007 |
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ASJC Scopus subject areas
- Dermatology
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BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. / Ponti, Giovanni; Venesio, Tiziana; Losi, Lorena; Pellacani, Giovanni; Bertario, Lucio; Sala, Paola; Pedroni, Monica; Petti, Consalvo; Maffei, Stefania; Varesco, Liliana; Lerch, Erika; Baggio, Andrea; Bassoli, Sara; Longo, Caterina; Seidenari, Stefania.
In: Journal of Investigative Dermatology, Vol. 127, No. 6, 06.2007, p. 1387-1391.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees
AU - Ponti, Giovanni
AU - Venesio, Tiziana
AU - Losi, Lorena
AU - Pellacani, Giovanni
AU - Bertario, Lucio
AU - Sala, Paola
AU - Pedroni, Monica
AU - Petti, Consalvo
AU - Maffei, Stefania
AU - Varesco, Liliana
AU - Lerch, Erika
AU - Baggio, Andrea
AU - Bassoli, Sara
AU - Longo, Caterina
AU - Seidenari, Stefania
PY - 2007/6
Y1 - 2007/6
N2 - The characteristics of sebaceous gland hyperplasia (SGH) consist of yellowish or skin-colored papules and nodules. Chronic sun exposure and immunosuppressed conditions are the main environmental risk factors, whereas chronological aging regulated by hormones and molecular changes are the intrinsic risk factors. We have evaluated the contribution of BRAF, K-Ras, and N-Ras mutations to the pathogenesis of SGHs in four patients belonging to three MYH-associated polyposis (MAP) pedigrees. MAP is an autosomal-recessive disease characterized by multiple colorectal adenomas and cancer. Immunohistochemistry of mismatch repair and APC proteins was performed. DNA isolated from blood lymphocytes and formalin-fixed or paraffin-embedded SGHs was PCR amplified and sequenced. In the SGH patients, we detected T1796A heterozygous substitution (V600E) in the BRAF gene. Compound biallelic germline MYH mutations (Y165C/G382D, R168H/379delC, and Y90X/delGGA464) were detected in the MAP patients. In contrast to the majority of melanocytic lesions, activating hotspot mutations in BRAF have not been involved so far in the pathogenesis of SGH. BRAF mutation is not a specific marker of melanocytic cancerogenesis, and it can also be involved in SGHs. In both melanocytic and non-melanocytic skin tumors, BRAF mutation is linked to early tumorigenesis events.
AB - The characteristics of sebaceous gland hyperplasia (SGH) consist of yellowish or skin-colored papules and nodules. Chronic sun exposure and immunosuppressed conditions are the main environmental risk factors, whereas chronological aging regulated by hormones and molecular changes are the intrinsic risk factors. We have evaluated the contribution of BRAF, K-Ras, and N-Ras mutations to the pathogenesis of SGHs in four patients belonging to three MYH-associated polyposis (MAP) pedigrees. MAP is an autosomal-recessive disease characterized by multiple colorectal adenomas and cancer. Immunohistochemistry of mismatch repair and APC proteins was performed. DNA isolated from blood lymphocytes and formalin-fixed or paraffin-embedded SGHs was PCR amplified and sequenced. In the SGH patients, we detected T1796A heterozygous substitution (V600E) in the BRAF gene. Compound biallelic germline MYH mutations (Y165C/G382D, R168H/379delC, and Y90X/delGGA464) were detected in the MAP patients. In contrast to the majority of melanocytic lesions, activating hotspot mutations in BRAF have not been involved so far in the pathogenesis of SGH. BRAF mutation is not a specific marker of melanocytic cancerogenesis, and it can also be involved in SGHs. In both melanocytic and non-melanocytic skin tumors, BRAF mutation is linked to early tumorigenesis events.
UR - http://www.scopus.com/inward/record.url?scp=34248523574&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34248523574&partnerID=8YFLogxK
U2 - 10.1038/sj.jid.5700723
DO - 10.1038/sj.jid.5700723
M3 - Article
C2 - 17273161
AN - SCOPUS:34248523574
VL - 127
SP - 1387
EP - 1391
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
SN - 0022-202X
IS - 6
ER -