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

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

Research output: Contribution to journalArticle

Abstract

An investigation of 14 patients with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular genetic techniques, showed that (I) the i(7)(q10) is not, or not always, an isochromosome but may arise from a more 0 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.

Original languageEnglish
Pages (from-to)375-382
Number of pages8
JournalGenes Chromosomes and Cancer
Volume45
Issue number4
DOIs
Publication statusPublished - Apr 2006

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Fingerprint Dive into the research topics of 'Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies'. Together they form a unique fingerprint.

  • Cite this

    Maserati, E., Minelli, A., Pressato, B., Valli, R., Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L., Poli, F., Panarello, C., Zecca, M., Lo Curto, F., Mecucci, C., Danesino, C., & Pasquali, F. (2006). Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes and Cancer, 45(4), 375-382. https://doi.org/10.1002/gcc.20301