Ocular-adnexal lymphoid tumors: A clinicopathologic and molecular genetic study of 77 patients

Purpose: To determine whether molecular genetic analysis of ocular-adnexal lymphoid tumors, combined with histopathology and tumor location, is helpfu l in predicting which patients will develop systemic lymphoma. Methods: A combined retrospective and prospective study of 77 patients with ocular-adnexal lymphoid tumors was performed. The tumors were subdivided i nto conjunctival, orbital, and eyelid lesions, and all were studied using b oth routine histopathology and molecular genetic analysis. Results: Most lesions (70%) were small cell lymphomas of the mucosa-associa ted lymphoid tissue type, and the majority of tumors (90%) contained monocl onal or oligoclonal populations of lymphocytes discovered on molecular gene tic analysis. Additionally, 72% of tumors exhibiting clonality had more tha n one gene rearrangement. Fifty-three percent of patients developed extraoc ular lymphoma sometime during the course of their disease. Patients with ge ne rearrangements on Southern blot hybridization had a 52% incidence of non ocular disease, compared with 63% of those without rearrangements. Patients with conjunctival tumors had a 37.5% incidence of nonocular disease, those with orbital tumors had a 54% incidence, and those with eyelid tumors had a 100% incidence of nonocular lymphoma. Only two patients died as result of systemic lymphoma. Conclusions: Most ocular-adnexal lymphoid tumors are lymphomas of the mucos a-associated lymphoid tissue type. The majority of tumors exhibit gene rear rangements on molecular genetic analysis, and this technique was not helpfu l in predicting which patients would develop nonocular lymphoma. Tumor loca tion did have predictive value: Conjunctival lesions had the lowest inciden ce of nonocular lymphoma, and lid lesions had the highest incidence. Even w ith disseminated disease, most patients have a favorable prognosis with tre atment.