title: Monosomy 7 and unbalanced t(1;7) in an adolescent boy with myelodysplastic syndrome.
abstract: Monosomy 7 occurs in approximately 5% of cases of myelodysplastic syndrome (MDS) in children and is associated with a poor prognosis. The unbalanced translocation t(1;7) is common in therapy-related MDS in adults but is extremely rare in children, with only three cases reported to date. We describe a pediatric case of MDS with the unusual combination of monosomy 7 and unbalanced t(1;7) in two distinct clones. Both clones were detected at diagnosis and have persisted throughout the course of MDS in this patient, a 16-year-old boy without prior exposure to known mutagens. Because of recurrent severe infections associated with neutropenia, he was treated with recombinant human granulocyte-macrophage colony-stimulating factor. This therapy improved the neutrophil count but did not alter the karyotype or the progression of disease.
authors.affiliation: Department of Pathology and Laboratory Medicine, St Jude Children's Research Hospital, Memphis, Tennessee 38101.
authors.forename: E
authors.initials: E
authors.lastname: Privitera
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: S C
authors.initials: SC
authors.lastname: Raimondi
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000473:pathology*; D013997:Time Factors; D014178:Translocation, Genetic