title: Two copies of isochromosome 5p in refractory cytopenia with multilineage dysplasia: A case report.
abstract: Isochromosome 5p-i(5)(p10)-represents a rare but recurrent abnormality in myeloid disorders, especially in acute myeloid leukemia. In all published cases, the isochromosome 5p was present in single copy and accompanied by one or more additional anomalies, mostly trisomy 8. Here we report a case of refractory cytopenia with multilineage dysplasia with two copies of isochromosome 5p, a single normal chromosome 5and an apparently balanced translocation between long arms of chromosome 7and 10. To our knowledge, the pentasomia 5p has never been described before the presentstudy.
authors.affiliation: Genetics Unit, St. Anna Hospital, Via Ravona 1, 22020 San Fermo della Battaglia-Como, Italy.
authors.forename: Carolina
authors.initials: C
authors.lastname: Giudici
authors.affiliation: Genetics Unit, St. Anna Hospital, Via Ravona 1, 22020 San Fermo della Battaglia-Como, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Lingeri
authors.affiliation: Surgical Pathology Unit, St. Anna Hospital, Como, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Patriarca
authors.affiliation: Surgical Pathology Unit, St. Anna Hospital, Como, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cavallero
authors.affiliation: Clinical Pathology Unit, St. Anna Hospital, Como, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Partenope
authors.affiliation: Clinical Pathology Unit, St. Anna Hospital, Como, Italy.
authors.forename: Floredana
authors.initials: F
authors.lastname: Casasanta
authors.affiliation: Oncology Unit, St. Anna Hospital, Como, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Epifani
authors.affiliation: Oncology Unit, St. Anna Hospital, Como, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Giordano
keywords: Isochromosome; Myelodysplastic syndrome; Pentasomia 5p; Refractory cytopenia with multilineage dysplasia