title: Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study.
abstract: Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis, peripheral cytopenia, and dysplastic changes in the bone marrow. Monosomy 7 or partial loss of 7q is a common cytogenetic abnormality in MDS patients and is associated with poor prognosis. This study examined eight patients with monosomy 7 and MDS. Five MDS patients with monosomy 7 progressed to acute leukemia: three cases transformed into acute myelogenous leukemia (AML) in a mean time of only 4.6 months and two cases into acute lymphoblastic leukemia (ALL) in a mean time of 9 months. To our knowledge, this is the first report showing progression of monosomy 7 associated with MDS to ALL in the childhood period.
authors.affiliation: Department of Genetics, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Sihhiye, Ankara, Turkey. daktas@hacettepe.edu.tr
authors.forename: Dilek
authors.initials: D
authors.lastname: Aktas
authors.forename: Ergul
authors.initials: E
authors.lastname: Tuncbilek
mesh_terms: D000208:Acute Disease; D002648:Child; D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics / Q000473:pathology; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics / Q000473:pathology*; D011379:Prognosis; D012189:Retrospective Studies