Cysts of the jaws

2025-11-18   Paola Dal Cin, PhD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Keywords
jaws ,tooth formation,radicular cyst,dentigerous cyst

Classification

Definition

Cystic lesions of the jaws include odontogenic (tooth formation) and non-odontogenic mostly benign, but variability in biologic behavior.  Most odontogenic cysts are reactive and caused by odontogenic infection. The radicular cyst and the dentigerous cyst are the most common odontogenic cysts in the jaws. So far, no genetic investigation are available for  radicular cyst, inflammatory collateral cyst ,surgical ciliated cyst, nasopalatine duct cyst, gingival cysts and lateral periodontal cyst and botryoid odontogenic cyst. 1
Odontogenic cysts that can be problematic because of recurrence and/or aggressive growth include dentigerous cyst ,odontogenic keratocyst (OKC), calcifying odontogenic cyst, glandular odontogenic cyst, all lesions carrying recurrent mutations. 2
The jaws may also house cystic lesions that are not odontogenic in origin e.g. simple bone cyst and aneurysmal bone cyst, also with recurrent mutations. 1,2

Odontogenic and maxillofacial bone tumors
Cystic of the Jaws Genetic marker(s)
Dentigerous cystBRAF mutations have not been found in dentigerous cysts by molecular assay.3
Orthokeratinized odontogenic cyst (OCC)Multiple OOCs appeared to occur more often in younger patients than solitary OOC. Absence of PTCH1 mutations has been reported. 4,5
Calcifying odontogenic cyst (COC)Mainly CTNNB1 mutations have been reported,6 but also nonsense or frameshift mutations in tumor-suppressor genes involved in the WNT pathway, including APC and NEDD4L.7
Glandular odontogenic cyst (GOC)Generally, glandular odontogenic cysts lack MAML2 rearrangements , 8 except for a single case. 9
Odontogenic keratocyst (OKC)Most OKCs show mutations of the PTCH1 tumor suppressor gene at 9q22.3–31, 10 rarely PTCH2 or SUNU 11 Multiple OKC cysts are feature of the nevoid basal cell carcinoma syndrome (NBCCS). also known as Gorlin syndrome OMIM:109400.

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1369287362023Cystic Lesions of the Jaws: The Top 10 Differential Diagnoses to Ponder.McLean AC et al
2366294572023The molecular basis of odontogenic cysts and tumours.Gomes IP et al
3270840442016BRAFV600E mutation in the diagnosis of unicystic ameloblastoma.Pereira NB et al
4355691172022Orthokeratinized odontogenic cysts: A clinicopathologic study of 159 cases and molecular evidence for the absence of PTCH1 mutations.Wang YJ et al
5362420482022Multiple orthokeratinized odontogenic cysts: clinical, pathological, and genetic characteristics.Ono S et al
6286582792017Genetic basis of calcifying cystic odontogenic tumors.Yukimori A et al
7385748172024Calcifying Odontogenic Cyst Demonstrates Recurrent WNT Pathway Mutations and So-Called Adenoid Ameloblastoma-Like Histology: Evidence Supporting Its Classification as a Neoplasm.Oh KY et al
8363577652023Diagnostic Reliability of CRTC1/3::MAML2 Gene Fusion Transcripts in Discriminating Histologically Similar Intraosseous Mucoepidermoid Carcinoma from Glandular Odontogenic Cyst: A Systematic Review and Meta-analysis.Keerthika R et al
9291214212018Assessment of biologically aggressive, recurrent glandular odontogenic cysts for mastermind-like 2 (MAML2) rearrangements: histopathologic and fluorescent in situ hybridization (FISH) findings in 11 cases.Greer RO et al
10317254702020Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.Stojanov IJ et al
11254582332015Underestimated PTCH1 mutation rate in sporadic keratocystic odontogenic tumors.Qu J et al

Citation

Paola Dal Cin, PhD

Cysts of the jaws

Atlas Genet Cytogenet Oncol Haematol. 2025-11-18

Online version: http://atlasgeneticsoncology.org/solid-tumor/209337/cysts-of-the-jaws