title: Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms.
abstract: BACKGROUND
  An interstitial deletion of the long arms of chromosome 20, del(20)(q), is frequent in the bone marrow (BM) of patients with myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), and myeloproliferative neoplasms (MPN), and it is recurrent in the BM of patients with Shwachman-Diamond syndrome (SDS), who have a 30-40% risk of developing MDS and AML.
  
  
  RESULTS
  We report the results obtained by microarray-based comparative genomic hybridization (a-CGH) in six patients with SDS, and we compare the loss of chromosome 20 material with one patient with MDS, and with data on 92 informative patients with MDS/AML/MPN and del(20)(q) collected from the literature.
  
  
  CONCLUSIONS
  The chromosome material lost in MDS/AML/MPN is highly variable with no identifiable common deleted regions, whereas in SDS the loss is more uniform: in 3/6 patients it was almost identical, and the breakpoints that we defined are probably common to most patients from the literature. In some SDS patients less material may be lost, due to different distal breakpoints, but the proximal breakpoint is in the same region, always leading to the loss of the EIF6 gene, an event which was related to a lower risk of MDS/AML in comparison with other patients.
authors: Roberto
authors: R
authors: Valli
authors: Barbara
authors: B
authors: Pressato
authors: Cristina
authors: C
authors: Marletta
authors: Lydia
authors: L
authors: Mare
authors: Giuseppe
authors: G
authors: Montalbano
authors: Francesco Lo
authors: FL
authors: Curto
authors: Francesco
authors: F
authors: Pasquali
authors: Dipartimento di Medicina Clinica e Sperimentale, Università dell'Insubria, Via J, H, Dunant, 5, I 21100 Varese, Italy. emanuela.maserati@uninsubria.it.
authors: Emanuela
authors: E
authors: Maserati