Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms

Molecular Cytogenetics
Roberto ValliE Maserati

Abstract

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. 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. 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.

References

Jul 28, 2005·Pediatric Blood & Cancer·Yigal Dror
Jun 2, 2009·Nature Genetics·Saskia M C LangemeijerJoop H Jansen
Jul 21, 2010·Genes, Chromosomes & Cancer·Ruth N MackinnonLynda J Campbell
Aug 14, 2012·American Journal of Hematology·Jelena D MilosevicRobert Kralovics

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Citations

Oct 20, 2015·Nature Structural & Molecular Biology·Félix WeisAlan J Warren
Jan 29, 2017·Pediatric Blood & Cancer·Roberto ValliEmanuela Maserati
Jun 13, 2019·Nature Reviews. Genetics·Patrick RevyAlain Fischer
Nov 11, 2018·Molecular Diagnosis & Therapy·Valentino Bezzerri, Marco Cipolli
Dec 24, 2018·British Journal of Haematology·Lucia Nacci
Aug 5, 2019·Trends in Genetics : TIG·Katherine I Farley-BarnesSusan J Baserga
Aug 21, 2021·Nature Communications·Shengjiang TanPatrick Revy

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Methods Mentioned

BETA
MDS

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