Literature DB >> 24371769

Two copies of isochromosome 5p in refractory cytopenia with multilineage dysplasia: A case report.

Carolina Giudici1, Riccardo Lingeri1, Carlo Patriarca2, Alessandra Cavallero2, Michele Partenope3, Floredana Casasanta3, Raffaella Epifani4, Monica Giordano4.   

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.

Entities:  

Keywords:  Isochromosome; Myelodysplastic syndrome; Pentasomia 5p; Refractory cytopenia with multilineage dysplasia

Year:  2013        PMID: 24371769      PMCID: PMC3850404          DOI: 10.1016/j.lrr.2012.11.005

Source DB:  PubMed          Journal:  Leuk Res Rep        ISSN: 2213-0489


  6 in total

1.  Myelodysplastic syndrome with isochromosome 5p and trisomy 8 after treatment of a multiple myeloma.

Authors:  Maria Angeles Jimenez-Sousa; Maria Teresa Ferro; Maria Talavera; Concepcion Villalon; Pablo Cabello; Jose Laraña; Pilar Herrera; Jose Miguel Garcia Sagredo
Journal:  Cancer Genet Cytogenet       Date:  2010-12

2.  Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia.

Authors:  Anna D Panani
Journal:  In Vivo       Date:  2006 May-Jun       Impact factor: 2.155

3.  Hemochromatosis gene mutation--could it be a disease marker for myelodysplasia?

Authors:  J Várkonyi; H Andrikovics; A Tordai
Journal:  Leuk Res       Date:  2008-05-06       Impact factor: 3.156

4.  Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders.

Authors:  Angèle Herry; Nathalie Douet-Guilbert; Frédéric Morel; Marie-Josée Le Bris; Nadia Guéganic; Christian Berthou; Marc De Braekeleer
Journal:  Cancer Genet Cytogenet       Date:  2010-07-15

5.  High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patients.

Authors:  Judit Várkonyi; Gábor Tarkovács; István Karádi; Hajnalka Andrikovics; Ferenc Varga; Fatime Varga; Judit Demeter; Attila Tordai
Journal:  Acta Haematol       Date:  2003       Impact factor: 2.195

6.  Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.

Authors:  C Schoch; S Bursch; W Kern; S Schnittger; W Hiddemann; T Haferlach
Journal:  Cancer Genet Cytogenet       Date:  2001-05
  6 in total

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