| Autor: |
Alonso-Juarranz M; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Department of Surgery, Faculty of Medicine, Universidad Complutense, 28040 Madrid, Spain., Sen O; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Department of Surgery, Faculty of Medicine, Universidad Complutense, 28040 Madrid, Spain., Pérez P; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Histopatology Service, Hospital Clínico San Carlos, 28040 Madrid, Spain., González-Corchón MA; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Department of Surgery, Faculty of Medicine, Universidad Complutense, 28040 Madrid, Spain., Cabezas-Camarero S; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Oncology Service, Hospital Clínico San Carlos, 28040 Madrid, Spain., Saiz-Pardo M; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Histopatology Service, Hospital Clínico San Carlos, 28040 Madrid, Spain., Viñas-Lopez J; Secugen, Center for Biological, Research Margarita Salas, CSIC, 28040 Madrid, Spain., Recio-Poveda L; Department of Molecular Biomedicine, Center for Biological, Research Margarita Salas, CSIC, 28040 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), 28029 Madrid, Spain., Botella LM; Department of Molecular Biomedicine, Center for Biological, Research Margarita Salas, CSIC, 28040 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), 28029 Madrid, Spain., Falahat F; Oral and Maxillofacial Surgery Service, Hospital Clínico San Carlos, 28040 Madrid, Spain.; Department of Surgery, Faculty of Medicine, Universidad Complutense, 28040 Madrid, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), 28029 Madrid, Spain. |
| Abstrakt: |
A squamous odontogenic tumor (SOT) is an epithelial locally benign neoplasia derived from the periodontium of the jaws. It is considered a lesion of low incidence. Predominantly, it affects the mandible, although both jaw bones may be involved. Here, we discuss the malignant clinical evolution of an SOT lesion in an 80-year-old female patient. The patient exhibited an expansive triangular lesion at the inferior right quadrant. Surgery was performed and an SOT was diagnosed (2019). Two years after, the lesion grew, and the analysis of the biopsy revealed SOT malignization with pleomorphic atypical squamous cells, characteristics of a squamous cell carcinoma (2021). Massive DNA sequencing of formalin-fixed-paraffin-embedded specimens of the initial and relapsed tumors indicated pathogenic mutations in RET and POLE genes in both tumors, loss of ALK , and gain of CDKN1B and MAP2K in the relapse. In addition, the clinical, radiographic, and microscopic features of this neoplasm are discussed and compared with those already published. The case presented contributes to the better understanding of this SOT tumor entity and to indicates its malignant evolution, together with its biological behavior and its histologic, clinical, and radiographic features. Also, it aims to stress the importance of deeper genetic analyses in rare diseases to uncover mutations that help to select a personalized treatment. |
