MONOSOMY-7 SYNDROME - CLINICAL HETEROGENEITY IN CHILDREN AND ADOLESCENTS

Bone marrow monosomy 7 is the most frequent karyotypic abnormality found in patients with chronic myeloproliferative disorders. To a review of 46 previously reported pediatric patients we add three additional cases. Clinical presentation is usually dependent upon which cell lines are most perturbed in this pluripotent stem cell disorder. Sixteen (35%) children presented by their first birthday and 35 (76%) by their sixth birthday. Distinctive differences in presentation exist between infants, children, and adolescents. Younger patients were more symptomatic and had greater degree of hepatosplenomegaly and leukocytosis. The prognosis is very poor and death usually occurs within two years from complications attributable to cytopenias, cellular dysfunction, or transformation to acute nonlymphocytic leukemia. Implications for therapy are discussed. © 1990.