496 DESCRIPTIVE EPIDEMIOLOGY OF MALIGNANCY IN ATAXIA-TELANGIECTASIA (A-T): AN IMMUNODEFICIENCY-CANCER REGISTRY (ICR) REPORT

Abstract

108 cases of cancer in patients with A-T, an autosomal-recessive disorder of neurologic, endocrine, and immunologic dysfunction were collected by the ICR worldwide. 71/108 cases (66%) developed lymphoid malignancies at a median age of 8 yrs. (range 2-45 yrs.) with a male/female ratio=1.6. When U.S. cases were compared to an age/sex matched sample from the general cancer pop. their lymphoid tumors accounted for a 10.3× proportional excess. A-T lymphomas were morphologically similar to the non-lymphoblastic types diagnosed in the general childhood pop. but different from the immunoblastic type found in other immunodeficient states. The T-cell phenotype was prominent in A-T lymphocytic leukemialymphoma tested (5/8, 62%) in contrast to the predominance of null cell leukemias in non-immunodeficient children. Clonal rearrangement of chromosome 14 appeared in all 3 T-cell chronic lymphatic leukemias and in 1 lymphoma. Another 20% of A-T cases (22/108) had carcinomas; female/male ratio=3.4. Liver carcinomas had a proportional excess for both females (3×) and males (4.5×), while stomach and genital tract sites were proportionately increased 70× and 4.4× in females only. Remaining patients had Hodgkin's disease (12/108, 11%) and other leukemias (3/108, 3%). Malignancy features in A-T differ from those observed in the general and other immunodeficiency populations, suggesting several host susceptibility mechanisms in this entity. (USPHS CP-43384)

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