March 20, 2012
Dr. Nunes’s project will focus on the development of molecular approaches for the diagnosis of a type of tumor called odontogenic keratocysts (KOTs). The keratocystic odontogenic tumor (KOT), formerly known as the odontogenic keratocyst (OKC) is an aggressive jaw tumor. There is no satisfactory treatment and it has a high rate of recurrence following surgical treatment. Patients with this condition may present with a sporadic tumor or several tumors, often associated with a genetic syndrome called nevoid basal cell carcinoma syndrome.
While the KOT is one of the most common jaw tumors, the incidence of KOT in the general population is not clear. Management of KOT has challenged and frustrated patients and providers. A wide spectrum of surgical treatment has been reported for the KOT. Treatment recommendations have included: decompression (i.e. removal of a portion of the tumor lining and placement of a drain followed by 12-24 months of daily irrigation), marsupialization, enucleation and curettage with or without treatment of the bone cavity with chemicals or liquid nitrogen and en bloc resection (i.e. removal of the portion of the mandible or maxilla containing the tumor along with a normal 1 cm margin). The more aggressive approach (i.e. resection) has been advocated because of KOT’s high rate of recurrence. The reason for such a high recurrence rate is currently unknown; however, the presence of epithelial remnants or satellite cysts within the osseous margin has been thought to contribute to recurrences. The different surgical approaches are associated with patient morbidity. Even decompression requires, at a minimum, one surgical procedure for placement of the drain and often a cystectomy following 12-24 months of irrigation. Resection of the tumor requires jaw reconstruction using bone from another site on the body, typically the hip or lower leg. Without treatment KOTs progressively enlarge and destroy bone.
Genomics holds potential to change the management of tumors such as KOTs. KOT molecular markers could have important clinical implications. Genomic biomarkers may be used to correctly identify patients with a specific gene mutation who could benefit from medical therapy as appropriate drugs become available. Currently, biologically based diagnostic approaches can be used to differentiate KOT from other cysts and better guide the treatment of patients with this condition.
Dr. Stephanie received her training on Dental Medicine from Universidade Catolica Portuguesa at Viseu, Portugal and completed a Masters of Science in Oral Medicine at the same University. With a Visiting Scholar position, Dr. Stephanie Nunes will be working with Dr. Brian Schmidt; Director of the NYU Oral Cancer Center and the NYU Translational Cancer Pain Laboratory.