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

An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular 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 of the short arm; (2) the...

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Published in:Genes chromosomes & cancer 2006-04, Vol.45 (4), p.375-382
Main Authors: Maserati, Emanuela, Minelli, Antonella, Pressato, Barbara, Valli, Roberto, Crescenzi, Barbara, Stefanelli, Maurizio, Menna, Giuseppe, Sainati, Laura, Poli, Furio, Panarello, Claudio, Zecca, Marco, Curto, Francesco Lo, Mecucci, Cristina, Danesino, Cesare, Pasquali, Francesco
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Adult
Case-Control Studies
Child
Chromosome Aberrations
Chromosome Breakage
Chromosomes, Human, Pair 20 - genetics
Chromosomes, Human, Pair 7 - genetics
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Male
Myelodysplastic Syndromes - etiology
Myelodysplastic Syndromes - genetics
Proteins - genetics
Syndrome
Translocation, Genetic
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Summary:An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular 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 of the short arm; (2) the i(7)(q10) has no preferential parental origin; (3) clonal chromosome changes, such as chromosome 7 anomalies and del(20)(q11), may be present in the bone marrow (BM) for a long time without progressing to myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML); (4) the del(20)(q11) involves the minimal region of deletion typical of MDS/AML; (5) the rate of chromosome breaks is not significantly higher than in controls, from which it is concluded that SS should not be considered a breakage syndrome; (6) a specific kind of karyotype instability is present in SS, with chromosome changes possibly found in single cells or small clones, often affecting chromosomes 7 and 20, in the BM. Hence, we have confirmed our previous hypothesis that the SS mutation itself implies a mutator effect that is responsible for MDS/AML through these specific chromosome anomalies. This conclusion supports the practice of including cytogenetic monitoring in the follow‐up of SS patients. © 2005 Wiley‐Liss, Inc.
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.20301