Oral Squamous Cell Carcinoma (OSCC) in a Patient with CDKN2A Germline Mutation

Background Hereditary oral squamous cell carcinoma (OSCC) has a reported association with CDKN2A germline mutation. This mutation is typically associated with familial atypical multiple mole melanoma (FAMMM) and melanoma- pancereatic cancer syndrome, and an increased risk of astrocytoma. Case summary A 66-year-old female presented to the oral medicine clinic complaining of an asymptomatic, white, recurrent lesion on the right lateral tongue extending into the floor of mouth (FOM) for three months. She was previously evaluated by an oral and maxillofacial surgeon and underwent biopsy from right lateral and ventral surface of the tongue followed by laser ablation. The biopsy was reported as benign squamous mucosa. Two months later, the lesion recurred and she presented to our department. Past medical history included melanoma of the skin of shoulder, rheumatoid arthritis and osteoarthritis. Medications included calcium and glucosamine. Her family history included a daughter with a history of pancreatic cancer and a brother with melanoma. Social history was significant for one glass of wine daily. A detailed review of systems was negative. Extraoral examination was unremarkable with no cervical lymphadenopathy. Intraoral examination revealed a white raised lesion on the right lateral and ventral surface of the anterior third of tongue extending to the right FOM. The area was 3 × 2 cm in size, and negative for tenderness or induration upon palpation. Punch biopsies were taken from two sites of lesion and resulted as moderate epithelial dysplasia on the right FOM, and as epithelial dysplasia, moderate to focally severe, on the right lateral surface of the tongue. The patient underwent photodynamic therapy (PDT) and was stable for three years. The patient returned with lesions on the same site which were biopsied and determined to be OSCC. She underwent partial glossectomy of the right tongue and partial resection of the right FOM. The patient continues with leukoplakia on the same site without dysplastic progression. Since her daughter had pancreatic cancer and brother had melanoma, she was genetically tested and determined to be positive for CDKN2A germline mutation. Conclusions The importance of screening for head and neck cancers particularly OSCC in patients with CDKN2A germline mutation. Hereditary oral squamous cell carcinoma (OSCC) has a reported association with CDKN2A germline mutation. This mutation is typically associated with familial atypical multiple mole melanoma (FAMMM) and melanoma- pancereatic cancer syndrome, and an increased risk of astrocytoma. A 66-year-old female presented to the oral medicine clinic complaining of an asymptomatic, white, recurrent lesion on the right lateral tongue extending into the floor of mouth (FOM) for three months. She was previously evaluated by an oral and maxillofacial surgeon and underwent biopsy from right lateral and ventral surface of the tongue followed by laser ablation. The biopsy was reported as benign squamous mucosa. Two months later, the lesion recurred and she presented to our department. Past medical history included melanoma of the skin of shoulder, rheumatoid arthritis and osteoarthritis. Medications included calcium and glucosamine. Her family history included a daughter with a history of pancreatic cancer and a brother with melanoma. Social history was significant for one glass of wine daily. A detailed review of systems was negative. Extraoral examination was unremarkable with no cervical lymphadenopathy. Intraoral examination revealed a white raised lesion on the right lateral and ventral surface of the anterior third of tongue extending to the right FOM. The area was 3 × 2 cm in size, and negative for tenderness or induration upon palpation. Punch biopsies were taken from two sites of lesion and resulted as moderate epithelial dysplasia on the right FOM, and as epithelial dysplasia, moderate to focally severe, on the right lateral surface of the tongue. The patient underwent photodynamic therapy (PDT) and was stable for three years. The patient returned with lesions on the same site which were biopsied and determined to be OSCC. She underwent partial glossectomy of the right tongue and partial resection of the right FOM. The patient continues with leukoplakia on the same site without dysplastic progression. Since her daughter had pancreatic cancer and brother had melanoma, she was genetically tested and determined to be positive for CDKN2A germline mutation. The importance of screening for head and neck cancers particularly OSCC in patients with CDKN2A germline mutation.