PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome
Nevoid basal cell carcinoma syndrome (NBCCS) is a typical autosomal dominant disorder distinguished by malformations in development and an increased susceptibility to cancer. Keratocystic Odontogenic Tumors (KOTs) are highly malignant lesions of the jaw that, in isolation or conjunction with NBCCS,...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-06-01
|
| Series: | Oral Oncology Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772906024003406 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1841553694673338368 |
|---|---|
| author | Archana Behera Mukesh Kumar Dharmalingam Jothinathan |
| author_facet | Archana Behera Mukesh Kumar Dharmalingam Jothinathan |
| author_sort | Archana Behera |
| collection | DOAJ |
| description | Nevoid basal cell carcinoma syndrome (NBCCS) is a typical autosomal dominant disorder distinguished by malformations in development and an increased susceptibility to cancer. Keratocystic Odontogenic Tumors (KOTs) are highly malignant lesions of the jaw that, in isolation or conjunction with NBCCS, may be associated with PTCH1 (patched 1) mutations. The function of PTCH1 mutations in the pathogenesis of KOTs is the subject of this study, which compares cases associated with NBCCS and spontaneous KOTs. The genetic analyses revealed that PTCH1 mutations were the most prevalent in both KOTs varieties, while Smoothened (SMO) mutations were rare, indicating that they play a negligible role. These mutations increase the activity of the Sonic Hedgehog (SHH) Pathway, indicating that pathway inhibitors may be a viable treatment option. These findings validate the significance of PTCH1 in KOTs aggressiveness and recurrence, supporting the use of genetic testing to improve treatment and diagnosis. This underscores the importance of targeted therapies, specifically in instances of resistance, and the tailoring of treatment plans under genetic knowledge. |
| format | Article |
| id | doaj-art-b6ddfc94e4af4826b95a97a9218013e6 |
| institution | Kabale University |
| issn | 2772-9060 |
| language | English |
| publishDate | 2024-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Oral Oncology Reports |
| spelling | doaj-art-b6ddfc94e4af4826b95a97a9218013e62025-01-09T06:16:31ZengElsevierOral Oncology Reports2772-90602024-06-0110100494PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndromeArchana Behera0Mukesh Kumar Dharmalingam Jothinathan1Centre for Global Health Research, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, IndiaCorresponding author.; Centre for Global Health Research, Saveetha Medical College and Hospitals, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, IndiaNevoid basal cell carcinoma syndrome (NBCCS) is a typical autosomal dominant disorder distinguished by malformations in development and an increased susceptibility to cancer. Keratocystic Odontogenic Tumors (KOTs) are highly malignant lesions of the jaw that, in isolation or conjunction with NBCCS, may be associated with PTCH1 (patched 1) mutations. The function of PTCH1 mutations in the pathogenesis of KOTs is the subject of this study, which compares cases associated with NBCCS and spontaneous KOTs. The genetic analyses revealed that PTCH1 mutations were the most prevalent in both KOTs varieties, while Smoothened (SMO) mutations were rare, indicating that they play a negligible role. These mutations increase the activity of the Sonic Hedgehog (SHH) Pathway, indicating that pathway inhibitors may be a viable treatment option. These findings validate the significance of PTCH1 in KOTs aggressiveness and recurrence, supporting the use of genetic testing to improve treatment and diagnosis. This underscores the importance of targeted therapies, specifically in instances of resistance, and the tailoring of treatment plans under genetic knowledge.http://www.sciencedirect.com/science/article/pii/S2772906024003406Keratocystic odontogenic tumors (KOTs)Nevoid basal cell carcinoma syndrome (NBCCS)PTCH1Smoothened (SMO) genesSonic hedgehog (SHH) pathway |
| spellingShingle | Archana Behera Mukesh Kumar Dharmalingam Jothinathan PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome Oral Oncology Reports Keratocystic odontogenic tumors (KOTs) Nevoid basal cell carcinoma syndrome (NBCCS) PTCH1 Smoothened (SMO) genes Sonic hedgehog (SHH) pathway |
| title | PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome |
| title_full | PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome |
| title_fullStr | PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome |
| title_full_unstemmed | PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome |
| title_short | PTCH1 mutations' role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome |
| title_sort | ptch1 mutations role in keratocystic odontogenic tumors and nevoid basal cell carcinoma syndrome |
| topic | Keratocystic odontogenic tumors (KOTs) Nevoid basal cell carcinoma syndrome (NBCCS) PTCH1 Smoothened (SMO) genes Sonic hedgehog (SHH) pathway |
| url | http://www.sciencedirect.com/science/article/pii/S2772906024003406 |
| work_keys_str_mv | AT archanabehera ptch1mutationsroleinkeratocysticodontogenictumorsandnevoidbasalcellcarcinomasyndrome AT mukeshkumardharmalingamjothinathan ptch1mutationsroleinkeratocysticodontogenictumorsandnevoidbasalcellcarcinomasyndrome |