Benign and malignant tumors in Down syndrome: Analysis of the 1514 autopsied cases in Japan

Abstract

Down syndrome is known for its association with neoplasms. The aim of this study was to examine this association. We surveyed the association with benign and malignant neoplasms in Down syndrome patients registered in the Annual of Pathological Autopsy Cases of Japan (1974-2000), a database of autopsied cases operated by the Japanese Society of Pathology. In a total of 1514 cases with Down syndrome, there were eight cases with 10 benign tumors (four male and four female) and 104 cases with malignant disorders (61 male, 42 female and one case with unrecorded sex), in which 87 cases with hematopoietic malignancies (83.7%) and 17 cases with solid tumors (16.3%), were identified. The association of gallbladder adenocarcinoma with a benign tumor of the colon was noted in one case, while a further two cases with double benign tumors were confirmed as well. No case with a double malignancy was found. Hematopoietic malignancies (87 cases) included 31 cases (35.6%) with acute myelocytic leukemia, 10 (11.4%) with acute lymphocytic leukemia and two (2.3%) with chronic myelocytic leukemia. The ratio of acute myelocytic leukemia to acute lymphocytic leukemia was 3.1 in the present study. A peak in the age distribution was at 0 years in our data in contrast to the previous data (at 1 year) for myelocytic leukemia. The 17 solid tumors identified included three hepatocellular carcinomas, three extrahepatic cholangiocarcinomas, two gallbladder adenocarcinomas, three brain tumors, and three seminomas. We present new associations of benign and malignant tumors with Down syndrome.