Cytogenetic characterization of acute myeloid leukemia in Shwachman's syndrome. A case report

We report on a case of acute myeloid leukemia in a 17-year old boy affected by Shwachman Diamond syndrome (SDS). Conventional cytogenetics at diagnosi s revealed an abnormal clone with complex karyotypic changes including typi cal myeloid aberations, such as monosomy 5, tetrasomy of chromosome 8, tris omy 9, and deletion of the short arm of chromosome 12. The boy was heated w ith conventional chemotherapy and reached complete remission of leukemia, c onfirmed by cytogenetics and fluorescence in situ hybridization. Neverthele ss he failed to regenerate normal marrow cellularity and blood cell count. Cytogenetic information on hematologic malignancies in SDS patients are dis cussed. (C)2000; Ferrata Sorti Foundation.