In one patient, the abnormal clone became undetectable after 2 years of follow-up. No patients showed progression into more advanced stages of MDS or into AML. RAS and p53 mutation analysis and AML blast colony assays were uniformly negative.

The following tests did not distinguish patients with CMCA from other SDS patients: severity of peripheral cytopenia, fetal hemoglobin levels, percentage of marrow CD34+ cells, colony growth from marrow CD34+ cells, cluster-to-colony ratio, marrow stromal function, percentage of marrow apoptosis cells, and granulocyte colony-stimulating factor receptor expression. The abnormalities were del(20q) in two patients, i(7q) in one, and combined del(20q) and i(7q) in one. Results of baseline and serial hematological assessments for up to 5 years are reported.Ĭlonal marrow cytogenetic abnormalities (CMCA) were detected in 4 patients (29%) on first testing or at follow-up. This is a longitudinal prospective study of 14 patients recruited for annual hematological evaluations. The study's aims were to determine the cellular and molecular characteristics as well as the clinical course of malignant myeloid transformation and clonal marrow disease in patients with SDS. Retrospective studies suggested a high propensity for malignant myeloid transformation into myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML).

Shwachman-Diamond syndrome (SDS) is characterized by varying degrees of marrow failure.

Hemoglobin gene serial cloner