Smoothened gene alterations in keratocystic odontogenic tumors

被引：19

作者：

Zhang Rui ^{[1
]}

Peng Li-Ying ^{[1
]}

Qu Jia-Fei ^{[1
]}

Hong Ying-Ying ^{[1
]}

Chen Feng ^{[2
]}

Li Tie-Jun ^{[1
]}

机构：

[1] Peking Univ, Sch & Hosp Stomatol, Dept Oral Pathol, Beijing 100081, Peoples R China

[2] Peking Univ, Sch & Hosp Stomatol, Cent Lab, Beijing 100081, Peoples R China

来源：

HEAD & FACE MEDICINE | 2014年 / 10卷

基金：

中国国家自然科学基金;

关键词：

Keratocystic odontogenic tumor (KCOT); Hedgehog (HH) signaling pathway; Gene mutation; SMO gene; CELL CARCINOMA SYNDROME; HEDGEHOG SIGNALING PATHWAY; THERAPEUTIC TARGET; PTCH1; GENE; MUTATIONS; CANCER; SMO; RECEPTOR; PROTEIN; ENCODES;

D O I：

10.1186/1746-160X-10-36

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

Background: It has been widely demonstrated that the hedgehog pathway is strongly associated with basal cell carcinoma of the skin (NBCCS). To assess potential DNA alterations related to keratocystic odontogenic tumors (KCOTs), we sequenced smoothened (SMO) genes in 12 sporadic KCOTs. Methods: Polymerase chain reaction (PCR), capillary electrophoresis and dideoxy chain-termination sequencing were used to examine potential DNA alterations in sporadic KCOTs. Results: Five alterations in SMO genes were detected. Four of these mutations consisted of two synonymous and three missense mutations; two of which have not been reported to date (c.T776A, c.T1281G). Conclusions: SMO genes may play an important role in the sonic hedgehog (SHH) pathway and could also be responsible for generating KCOTs and NBCCS. However, their influence on SHH signaling remains to be elucidated.

引用

页数：7

共 47 条

[1] Hedgehog signaling pathway: A novel target for cancer therapy: Vismodegib, a promising therapeutic option in treatment of basal cell carcinomas [J].

Abidi, Afroz .

INDIAN JOURNAL OF PHARMACOLOGY, 2014, 46 (01) :3-12

[2] The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal [J].

Alcedo, J ;

Ayzenzon, M ;

VonOhlen, T ;

Noll, M ;

Hooper, JE .

CELL, 1996, 86 (02) :221-232

[3] Unraveling the therapeutic potential of the Hedgehog pathway in cancer [J].

Amakye, Dereck ;

Jagani, Zainab ;

Dorsch, Marion .

NATURE MEDICINE, 2013, 19 (11) :1410-1422

[4]

[Anonymous], CANC DISCOV

[5] Keratocystic odontogenic tumour (KCOT)-a cyst to a tumour [J].

Darpan Bhargava ;

Ashwini Deshpande ;

M. Anthony Pogrel .

Oral and Maxillofacial Surgery, 2012, 16 (2) :163-170

[6] Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations [J].

Brastianos, Priscilla K. ;

Horowitz, Peleg M. ;

Santagata, Sandro ;

Jones, Robert T. ;

McKenna, Aaron ;

Getz, Gad ;

Ligon, Keith L. ;

Palescandolo, Emanuele ;

Van Hummelen, Paul ;

Ducar, Matthew D. ;

Raza, Alina ;

Sunkavalli, Ashwini ;

MacConaill, Laura E. ;

Stemmer-Rachamimov, Anat O. ;

Louis, David N. ;

Hahn, William C. ;

Dunn, Ian F. ;

Beroukhim, Rameen .

NATURE GENETICS, 2013, 45 (03) :285-289

[7] The extracellular loops of Smoothened play a regulatory role in control of Hedgehog pathway activation [J].

Carroll, Candace E. ;

Marada, Suresh ;

Stewart, Daniel P. ;

Ouyang, J. Xiaoxi ;

Ogden, Stacey K. .

DEVELOPMENT, 2012, 139 (03) :612-621

[8] Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO [J].

Clark, Victoria E. ;

Erson-Omay, E. Zeynep ;

Serin, Akdes ;

Yin, Jun ;

Cotney, Justin ;

Oezduman, Koray ;

Avsar, Timuin ;

Li, Jie ;

Murray, Phillip B. ;

Henegariu, Octavian ;

Yilmaz, Saliha ;

Guenel, Jennifer Moliterno ;

Carrion-Grant, Geneive ;

Yilmaz, Baran ;

Grady, Conor ;

Tanrikulu, Bahattin ;

Bakircioglu, Mehmet ;

Kaymakcalan, Hande ;

Caglayan, Ahmet Okay ;

Sencar, Leman ;

Ceyhun, Emre ;

Atik, A. Fatih ;

Bayri, Yasar ;

Bai, Hanwen ;

Kolb, Luis E. ;

Hebert, Ryan M. ;

Omay, S. Bulent ;

Mishra-Gorur, Ketu ;

Choi, Murim ;

Overton, John D. ;

Holland, Eric C. ;

Mane, Shrikant ;

State, Matthew W. ;

Bilguevar, Kaya ;

Baehring, Joachim M. ;

Gutin, Philip H. ;

Piepmeier, Joseph M. ;

Vortmeyer, Alexander ;

Brennan, Cameron W. ;

Pamir, M. Necmettin ;

Kilic, Tuerker ;

Lifton, Richard P. ;

Noonan, James P. ;

Yasuno, Katsuhito ;

Guenel, Murat .

SCIENCE, 2013, 339 (6123) :1077-1080

[9] Tumour cell heterogeneity maintained by cooperating subclones in Wnt-driven mammary cancers [J].

Cleary, Allison S. ;

Leonard, Travis L. ;

Gestl, Shelley A. ;

Gunther, Edward J. .

NATURE, 2014, 508 (7494) :113-+

[10] PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts [J].

Gu, X. -M. ;

Zhao, H. -S. ;

Sun, L. -S. ;

Li, T. -J. .

JOURNAL OF DENTAL RESEARCH, 2006, 85 (09) :859-863

← 1 2 3 4 5 →