Histopathologic findings and frequency of clonality detected by the polymerase chain reaction in ocular adnexal lymphoproliferative lesions.

We report the reclassification according to recently described histologic categories of 48 patients with ocular adnexal lymphoproliferative lesions with long-term follow-up (mean, 8.1 yr). We used available formalin-fixed, paraffin-embedded, and frozen tissues to assess the frequency of immunoglobulin heavy chain gene rearrangement detectable by polymerase chain reaction in these lesions. We reviewed patient records, obtained follow-up data, and examined hematoxylin- and eosin-stained slides. DNA extracted from tissues was amplified with consensus V- and J-region primers to detect immunoglobulin heavy chain gene rearrangement. We examined 28 orbital, 10 lacrimal, and 10 conjunctival lesions, of which 2 lesions were lymphoid hyperplasias, 3 were indeterminate, and 43 were lymphomas. Of the 44 patients with follow-up, systemic lymphoma developed in 24 (55%), of whom 11 died of the disease, and 6 are alive with disease. Thirty-one patients had sufficient DNA for polymerase chain reaction analysis; 9 specimens were nonclonal, 21 were clonal, and 1 failed to amplify. The nonclonal lesions included one hyperplasia, one indeterminate lesion, and seven lymphomas; two of these patients died of the disease, and one is alive with disease. The clonal lesions included 1 indeterminate lesion and 20 lymphomas. Systemic lymphomas developed in 16 patients; 8 died of the disease, and 4 are alive with disease. Of the lesions histologically classified as lymphoma, 74% were clonal. We conclude that most ocular adnexal lymphoproliferative lesions can be histologically classified as lymphomas, that systemic lymphoma will develop in at least 50% of these patients if they are followed for sufficient time, and that most lesions classified as lymphomas will be clonal using polymerase chain reaction techniques. Lack of amplification using a consensus primer strategy may account for the inability to detect clonality by polymerase chain reaction in some histologically identified lymphomas.