Acute lymphoblastic leukemia in the eye region

Abstract

AbstractPurpose Manifestations of acute lymphoblastic leukemia (ALL) in the eye area are rare and mainly occur in children. The purpose of this study was to investigate clinical, histopathological and genetic characteristics of Danish cases with ocular manifestations of ALL.Methods Patients with orbital and adnexal leukemia were identified by searching the Danish Registry of Pathology between 1980 and 2009. Clinical files from the patients were collected. Specimens were re‐evaluated using a panel of monoclonal antibodies.Results We report two cases with extra‐ocular manifestations of ALL as first presenting symptom, and one case with late manifestations of ALL in the eye. Case 1 was a 5‐year‐old boy with a tumour mass in the left orbit extending along the orbital roof. Case 2 was a 9‐year‐old girl with a tumour in the upper left eyelid that laterally encircled the lacrimal gland. Case 3 was a 32‐year‐old man relapsing with leukemic infiltration of the iris. Histologic and immunophenotypic examination revealed that all cases were pre‐B‐cell ALL. Cytogenetic analysis of case 1 revealed a pseudodiploid karyotype with a t(2;3) translocation and case 2 showed a hyperdiploid karyotype with a t(12;21) translocation and trisomy 21. Cases 1 and 2 were successfully treated according to the NOPHO ALL 1992 and 2000 protocols and were in complete remission nine and five years after respectively. Case 3 did respond to therapy, and was alive with disease 29 years after primary diagnosis.Conclusion Ocular and extra‐ocular manifestations of leukemia are rare with only three cases observed during 30 years in Denmark. All cases were pre‐B‐cell ALL. Our patients responded well to therapy.