A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome

Özcan, Gözde; Balta, Burhan; Şekerci, Ahmet Ercan; Etöz, Osman A.; Martinuzzi, Claudia; Kara, Özlem; Pastorino, Lorenza; Koçoğlu, Fatma; Ulker, Omer; Erdoğan, Murat

doi:10.4103/0377-4929.188148

Cited by 5 publications

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“…Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant syndrome that has different various expressions in each patient ( Curatolo et al, 2013 , Daneswari and Reddy, 2013 , Fini et al, 2013 , Grundig et al, 2013 , Haenen et al, 2013 , Mohan et al, 2013 , Pol et al, 2013 , Rambocas and Murphy, 2013 , Saulite et al, 2013 , Budincevic et al, 2014 , De Craene et al, 2014 , Friedrich, 2014 , Inani and Mernissi, 2014 , Keceli et al, 2014 , Khan et al, 2014 , Kulkarni et al, 2014 , Larsen et al, 2014 , Mehta et al, 2014 , Mufaddel et al, 2014 , Patankar et al, 2014 , Shephard and Coleman, 2014 , Tarnoki et al, 2014 , Abreu et al, 2015 , Anchlia et al, 2015 , Chandran et al, 2015 , da Silva Pierro et al, 2015 , Galati et al, 2015 , Ganguly et al, 2015 , Grechi et al, 2015 , Hajalioghli et al, 2015 , Lata et al, 2015 , Lazaridou et al, 2015 , Majdoub et al, 2015 , Manjima et al, 2015 , Ojevwe et al, 2015 , Pickrell et al, 2015 , Ramesh et al, 2015 , Hubacek et al, 2016 , Khaliq et al, 2016 , Ozcan et al, 2016 , Ponti et al, 2016 , Ribeiro et al, 2016 , Scalise et al, 2016 , Tandon et al, 2016 , Thomas et al, 2016 , Virgone et al, 2016 , Casari et al, 2017 , da Paz Oliveira et al, 2017 , Mendes-Abreu et al, 2017 , Mendes-Bastos et al, 2017 , Nilesh et al, 2017 , Pennisi et al, 2017 , Sereflican et al, 2017 , Trento et al, 2017 , …”

Section: Introductionmentioning

confidence: 99%

“…Generally; NBCCS is followed by multiple nevoid basal cell carcinoma of the skin, orbital anomalies, skeletal anomalies, central nervous system anomalies and multiple odontogenic keratocysts (OK). NBCCS is usually first diagnosed between the ages of 5–30 years, with multiple basal cell carcinomas of the skin and OKs in the jaws as the initial findings ( Friedrich, 2014 , Mufaddel et al, 2014 , Tarnoki et al, 2014 , Anchlia et al, 2015 , da Silva Pierro et al, 2015 , Hajalioghli et al, 2015 , Lata et al, 2015 , Ozcan et al, 2016 , Ponti et al, 2016 , Nilesh et al, 2017 , Kumar et al, 2018 , Bartos et al, 2019 , Moramarco et al, 2019 , Silva et al, 2020 , Rafiq et al, 2021 , Yin and Shi, 2021 , Igaz et al, 2022 , Miraglia et al, 2022 ). OKs in these cases are usually observed in more than one quadrant, earlier and with higher recurrence rates compared to the non-syndromic OKs.…”

Section: Introductionmentioning

confidence: 99%

“…Multifocal lesions may be confused with other hypodense multifocal lesions of the jaws and the skull such as multiple myeloma however as the rest of odontogenic cysts, OKs have hyperdense cortical borders at the periphery of the lesion. As OKs do not cause lesions, clinicians can also distinguish them from the giant cell lesions of the cherubism as they are bilateral expansive lesions that displace teeth in an anterior direction ( Daneswari and Reddy, 2013 , Mohan et al, 2013 , Friedrich, 2014 , Keceli et al, 2014 , Khan et al, 2014 , Mufaddel et al, 2014 , Patankar et al, 2014 , Shephard and Coleman, 2014 , Tarnoki et al, 2014 , Abreu et al, 2015 , Anchlia et al, 2015 , Chandran et al, 2015 , Lazaridou et al, 2015 , Majdoub et al, 2015 , Manjima et al, 2015 , Pickrell et al, 2015 , Hubacek et al, 2016 , Ozcan et al, 2016 , Ribeiro et al, 2016 , Nilesh et al, 2017 , Aloosi et al, 2018 , Figueira et al, 2018 , Santander et al, 2018 , Cicciu et al, 2019 , Silva et al, 2020 , d’Apuzzo et al, 2022 , Minervini et al, 2022 , Pitak-Arnnop et al, 2022 , Spadari et al, 2022 ).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

Ünsal,

Cicciù,

Ayman Ahmad Saleh

et al. 2023

The Saudi Dental Journal

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

Ünsal,

Cicciù,

Ayman Ahmad Saleh

et al. 2023

The Saudi Dental Journal

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“…Nevoid Basal Cell Carcinoma Syndrome (NBCCS, Gorlin-Goltz syndrome) is an autosomal dominant inherited disease with complete penetration and variable expression. In its clinical manifestation, new dominant mutations of the PTCH1 gene are involved in 35-50% of cases 1 . The gene, the product of which is a transmembrane protein of the Patched family, is located in the long arm region of chromosome 9 (9q22.1 -q31).…”

Section: Introductionmentioning

confidence: 99%

Gorlin-Goltz syndrome with familial manifestation

Pazdera¹,

Santavá²,

Kolář³

2022

BIOMED PAP

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Aims. The detection of odontogenic keratocysts (OKC) in the oral cavity is one of the main criteria for the clinical manifestation of Gorlin-Goltz syndrome (Nevoid Basal Cell Carcinoma Syndrome -NBCCS). From a clinical point of view, we distinguish between "syndromic" and "sporadic" OKC. Syndromic cysts, often multifocal, may be an accidental finding on X-ray examination. They can manifest gradually depending on the development of permanent dentition. Sporadic cysts are rather solitary lesions with clinical manifestation in adulthood. Methods. Mutations in the PTCH1 gene are thought to be the cause of the clinical manifestation of NBCCS. These abnormalities can be transmitted from one generation to another and lead to a familial occurrence of the disease. In 35-50% of cases, these are a newly arising mutations. It is necessary to take into account the typical manifestations which in the next generation begin at a younger age and the disease usually has a more serious course. Results. We found a familial manifestation of NBCCS in two pairs of patients (mother and daughter and two siblings). Odontogenic keratocysts and cutaneous basal cell carcinomas were diagnosed and genetic testing revealed mutations in the PTCH 1 gene in all four individuals. Conclusions. With regard to the possibility of familial occurrence of NBCCS, it is necessary to pay increased attention to family history and, if necessary, to ensure clinical and genetic examination of parents and other family members. Patients of childbearing potential with evidence of NBCCS should be informed of the increased likelihood of the disease in the offspring.

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Molecular Genetics of Basal Cell Naevus Syndrome

John

Schwartz

2018

Encyclopedia of Life Sciences

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Basal cell naevus syndrome (BCNS) is an autosomal‐dominant disorder characterised by a triad of basal cell carcinomas, odontogenic keratocysts and cerebral calcifications. Mutations in multiple genes involved in the prooncogenic hedgehog signalling pathway result in aberrant upregulation of this pathway and a propensity for multiple cancers. Recent advances in genetics have promoted the role of mutation analysis, as mutations in specific genes have a prognostic impact. Moreover, specific treatments targeting ligands of the hedgehog signalling pathway allow for more prolonged suppression of tumour development. Resistance development with these treatments may be halted or delayed by combining multiple modalities that target different parts of the hedgehog signalling pathway. Elucidating the genetics of BCNS has facilitated the tailoring of treatment and surveillance. Key Concepts Basal cell naevus syndrome is a highly penetrant, autosomal‐dominant disorder that is characterised by a triad of basal cell carcinomas, jaw keratocysts and cerebral calcifications. Patients suffer from a genetic mutation in PTCH1, PTCH2, SMO and/or SUFU that allows for overactivation of the prooncogenic hedgehog signalling pathway. Mutations in PTCH2 and SUFU are associated with milder clinical features and lower penetrance. In particular, loss‐of‐function mutations of SUFU result in the absence of odontogenic keratocysts, development of infundibulocystic keratocysts and higher proclivity for medulloblastomas and meningiomas. Molecular genetic testing methods include single gene testing, multigene panels and genomic testing, with a high specificity and sensitivity. Genetic counselling and prenatal testing should be offered to all patients with basal cell naevus syndrome. Treatment consists of destructive, chemotherapeutic and, more recently, genetic inhibitive modalities. Genetic inhibitors are primarily cyclopamine derivatives, including vismodegib and sonidegib. Resistance commonly develops to cyclopamine derivatives; toxic side effects preclude long‐term use. Combination with other genetic inhibitors, such as azoles and arsenic trioxide, can delay resistance development.

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A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome

Cited by 5 publications

References 0 publications

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

Radiological evaluation of odontogenic keratocysts in patients with nevoid basal cell carcinoma syndrome: A review

Gorlin-Goltz syndrome with familial manifestation

Molecular Genetics of Basal Cell Naevus Syndrome

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