title: Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.
abstract: BACKGROUND
  Two chromosome anomalies are frequent in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS): an isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q). These anomalies are associated with a lower risk of developing myelodysplasia (MDS) and/or acute myeloid leukemia. The chromosome anomalies may be due to an SDS-specific karyotype instability, reflected also by anomalies that are not clonal, but found in single cells in the BM or in peripheral blood (PB).
  
  
  METHODS
  Starting in 1999, we have monitored the cytogenetic picture of a cohort of 91 Italian patients with SDS by all suitable cytogenetic and molecular methods.
  
  
  RESULTS
  Here, we report clonal chromosome anomalies that are different from the aforementioned, as well as changes found in single cells in BM/PB of the same patients.
  
  
  CONCLUSIONS
  Some of the newly recognized clonal anomalies in BM reported here are recurrent, especially unbalanced structural anomalies of chromosome 7, a further complex rearrangement of the del(20)(q) with duplicated and deleted portions, and an unbalanced translocation t(3;6), with partial trisomy of the long arm of chromosome 3 and partial monosomy of the long arm of chromosome 6. Firm conclusions on the possible prognostic relevance of these anomalies would require further study with larger patient cohorts, but our data are sufficient to suggest that these patients necessitate more frequent cytogenetic monitoring. The results on anomalies found in single cells confirm the presence of an SDS-specific karyotype instability.
authors.affiliation: Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Valli
authors.affiliation: Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: De Paoli
authors.affiliation: Medical Genetics, Fondazione IRCCS Policlinico S. Matteo and University of Pavia, Pavia, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Nacci
authors.affiliation: Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.|IRGB, National Council of Research, Milano, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Frattini
authors.affiliation: Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pasquali
authors.affiliation: Human and Medical Genetics, Department of Clinical and Experimental Medicine, University of Insubria, Varese, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Maserati
mesh_terms: D059786:Abnormal Karyotype; D000293:Adolescent; D000328:Adult; D001855:Bone Marrow Diseases / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008068:Lipomatosis / Q000235:genetics*; D008137:Longitudinal Studies; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D012008:Recurrence; D000081003:Shwachman-Diamond Syndrome; D055815:Young Adult
keywords: Shwachman-Diamond syndrome; acute myeloid leukemia; chromosome anomalies; karyotype instability; myelodysplastic syndrome