Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

• DOI: 10.1002/gcc.20301
• Publication Date: 2005-12-28T20:16:33Z
• Authors: Emanuela Maserati; Antonella Minelli; Barbara Pressato; Roberto Valli; Barbara Crescenzi; Maurizio Stefanelli; Giuseppe Menna; Laura Sainati; Furio Poli; Claudio Panarello; Marco Zecca; Francesco Lo Curto; Cristina Mecucci; Cesare Danesino; Francesco Pasquali
• Keywords: Isochromosome; Chromosome instability

Abstract An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods genetic techniques, showed that (1) the i(7)(q10) is not, or not always, an isochromosome but may arise from a more complex mechanism, retaining part short arm; (2) has no preferential parental origin; (3) clonal chromosome changes, such as 7 anomalies del(20)(q11), be present in bone marrow (BM) for long time without progressing to myelodysplastic (MDS)/acute myeloid leukemia (AML); (4) del(20)(q11) involves minimal region deletion typical MDS/AML; (5) rate breaks significantly higher than controls, which it concluded SS should considered breakage syndrome; (6) specific kind karyotype instability SS, changes possibly found single cells small clones, often affecting chromosomes 20, BM. Hence, we have confirmed our previous hypothesis mutation itself implies mutator effect responsible MDS/AML through these anomalies. This conclusion supports practice including monitoring follow‐up patients. © 2005 Wiley‐Liss, Inc.