Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors

Qu, Jingwei; Yu, F.; Hong, Yu; Guo, Yanyan; Sun, Lisha; Li, Xuefen; Zhang, Jianyun; Zhang, Heyu; Shi, Ruirui; Chen, Feng; Li, Tiejun

doi:10.1016/j.oraloncology.2014.09.016

Cited by 59 publications

(49 citation statements)

References 34 publications

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“…With respect to other odontogenic tumors, BRAFV600E (Kurppa et al, ) and SMO L412F and W535L (Sweeney et al, ) were frequently detected in ameloblastoma, and personalized molecular‐targeted therapy has been suggested as a possible treatment for ameloblastomas harboring the BRAF and SMO mutation (Gomes, Diniz, & Gomez, ; Heikinheimo, Kurppa, & Elenius, ; Kaye, Ivey, Drane, Mendenhall, & Allan, ). PTCH1 mutations are reported in odontogenic keratocysts with or without association to nevoid basal cell carcinoma syndrome (Qu et al, ; Wright, Odell, Speight, & Takata, ). In malignant tumors, BRAFV600E has been observed in ameloblastic carcinoma and clear cell odontogenic carcinoma (Diniz et al, ), as well as the fusion gene EWSR1‐ATF1 has been reported in clear cell odontogenic carcinoma (Bilodeau et al, ).…”

Section: Discussionmentioning

confidence: 99%

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

et al. 2018

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Objective This study aimed to assess the frequency of KRAS mutation and its association with the presence of the MAPK/ERK signaling pathway proteins in adenomatoid odontogenic tumors. Study Design Paraffin‐embedded tissue samples from nine cases of adenomatoid odontogenic tumor were used. Genomic DNA was extracted from each sample; in one case, genetic mutations in 50 cancer‐associated genes were examined by next‐generation sequencing. Hotspot mutations in the RAS family were analyzed by Luminex assay using the remaining eight cases. Subsequently, immunohistochemistry for KRAS, CRAF, BRAF, EGFR, ERK, MEK, and BRAFV600E was performed. Results A KRAS G12D missense mutation was detected in the DNA sequence of the tumor cells, but it was not detected in the stromal tissue. KRAS G12V and KRAS G12R mutations were detected in two and four cases, respectively. For immunohistochemistry, all the cases were EGFR, KRAS, BRAF, CRAF positive, one case was ERK negative,and one case was MEK and ERK negative, all the other remaining cases were MEK and ERK positive. Conclusion KRAS mutation at codon 12 and the presence of MAPK/ERK pathway proteins were detected suggesting their association with tumorigenesis of adenomatoid odontogenic tumors.

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Section: Discussionmentioning

confidence: 99%

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

et al. 2018

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“…In the present study, somatic gene mutation of POT was examined to discuss its possible pathogenesis. With respect to genetic alterations related to pathogenesis of benign odontogenic tumours or cysts, Braf V600E (Kurppa et al., ), Smo L412F and W535L (Sweeney et al., ) have been reported in ameloblastoma, while Ptch1 mutation has been reported in odontogenic keratocyst (Qu et al., ), Kras mutation in adenomatoid odontogenic tumours (Gomes et al., ), and Ctnnb1 mutations in calcifying odontogenic cysts (Sekine et al., ; Yukimori et al., ). Genetic alterations of Braf and Kras , Smo and Ctnnb1 affect to dysregulation of Mapk , Shh and Wnt signalling pathways, respectively, which play important roles in tooth germ development (Diniz et al., ).…”

Section: Discussionmentioning

confidence: 99%

“…Recently, somatic mutations of cancer‐associated genes such as Braf (Kurppa et al., ), Smo (Sweeney et al., ), Kras (Gomes et al., ), Ptch1 (Qu et al., ) and Ctnnb1 (Sekine et al., ; Yukimori et al., ) in some benign odontogenic tumours or cysts have been reported. These facts indicate that neoplastic proliferation of some odontogenic tumours may be triggered by genetic alterations affecting oncogenic signalling pathways (Diniz, Gomes, de Sousa, Xavier, & Gomez, ).…”

Section: Introductionmentioning

confidence: 99%

Pathogenesis of primordial odontogenic tumour based on tumourigenesis and odontogenesis

et al. 2018

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“…On the other hand, NBCCS, which shows multiple KOCTs, is known to be caused by mutations in the PTCH gene, which encodes a receptor for Sonic Hedgehog (SHH). PTCH mutations cause not only syndromic KCOTs, but also sporadic KCOTs [12]. Although crosstalk between the Ras/MAPK pathway and SHH pathway has not been clarified to date, the MAPK cascade has recently been reported to be involved in the positive regulation of SHH signaling in gastric cancer [13], and Ras gain-of-function mutations have also been reported to result in decreased SHH levels in hair follicle development [14].…”

Section: Discussionmentioning

confidence: 99%

Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome

Yamashita

Fujita

Ikeda

et al. 2016

Journal of Oral and Maxillofacial Surgery, Medicine, and Pathol

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Neurofibromatosis-Noonan syndrome (NFNS) is an uncommon chromosomal disordershowing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts. A 19-year-old Japanese girl was referred to our hospital with a chief complaint of swelling in the left side of the mandible. The patient showed symptoms of both NF-1, in the form of café-au-lait spots and neurofibromatosis, and NS, in the form of short stature, intellectual disturbance, webbed neck, and hypertelorism. Panoramic radiography showed three cystic lesions, one on each side of the mandible and one on the left side of the maxilla. All cysts were removed surgically under general anesthesia. Histopathological examination revealed that both mandibular cysts were dentigerous cysts, while the maxillary cyst was a keratocystic odontogenic tumor. No recurrence has been seen as of 5 years postoperatively. Multiple jaw cysts might be added as a potential finding in NFNS.2

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Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors

Cited by 59 publications

References 34 publications

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

Detection of MAPK/ERK pathway proteins and KRAS mutations in adenomatoid odontogenic tumors

Pathogenesis of primordial odontogenic tumour based on tumourigenesis and odontogenesis

Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome

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