title: New recurrent chromosome change in pediatric therapy-related myelodysplastic syndrome: unbalanced translocation 1/6 with cryptic duplication of short arm of chromosome 6.
abstract: The incidence of therapy-related myelodysplastic syndrome (t-MDS) in pediatric patients is increasing in parallel with the more successful management of the primary tumor, but scant information is available on clinical and cytogenetic characteristics. We report here two children affected by t-MDS after chemo/radiotherapy for a primary solid tumor, both with an unbalanced translocation 1/6 in their bone marrow. Characterization by array comparative genomic hybridization of the imbalances showed an almost identical pattern: almost complete trisomy of the long arm of chromosome 1, and a terminal deletion and interstitial duplication of the short arm of chromosome 6. The gain of chromosome 6 short arm encompasses regions already highlighted as possibly relevant for t-MDS in adults, and we suggest that the unbalanced translocation reported here be considered a new recurrent, non-random chromosomal abnormality in pediatric patients with t-MDS.
authors.affiliation: Cancer Cytogenetic Laboratory, Giannina Gaslini Institute, Genova, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.forename: Elisa
authors.initials: E
authors.lastname: Tavella
authors.forename: Roberto
authors.initials: R
authors.lastname: Valli
authors.forename: Concetta
authors.initials: C
authors.lastname: Micalizzi
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.forename: Emanuela
authors.initials: E
authors.lastname: Maserati
authors.forename: Francesco
authors.initials: F
authors.lastname: Pasquali
authors.forename: Cristina
authors.initials: C
authors.lastname: Morerio
mesh_terms: D059248:Chemoradiotherapy / Q000009:adverse effects; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D014178:Translocation, Genetic