caa a22 4500 463256263 CHVBK 20180405153356.0 cr unu---uuuuu 170326e20071001xx s 000 0 eng 10.1007/s00277-007-0337-z doi (NATIONALLICENCE)springer-10.1007/s00277-007-0337-z Chromosomal aberrations in congenital bone marrow failure disorders—an early indicator for leukemogenesis? [Elektronische Daten] [G. Göhring, A. Karow, D. Steinemann, L. Wilkens, P. Lichter, C. Zeidler, C. Niemeyer, K. Welte, B. Schlegelberger] As chromosomal instability may contribute to leukemogenesis in patients with congenital bone marrow failure (CBMF) disorders, it was the aim of this study to characterize chromosomally aberrant clones that arise during the clinical course of disease by means of R-banding and fluorescence in situ hybridization (FISH) analyses. In addition, multicolor-FISH and array-comparative genomic hybridization (CGH) were applied to characterize clonal chromosome aberrations in more detail. Between January 2004 and December 2005, we prospectively analyzed 90 samples of 73 patients with proven or suspected CBMF disorders enrolled in a German Study Network of CBMF diseases. Clonal aberrations could be identified in four of 73 patients examined. In one child with congenital thrombocytopenia, Jacobsen syndrome [del(11)(q24)c] was diagnosed, and thus a CBMF could be excluded. In a girl with Shwachman-Diamond syndrome, two independent clones, one with an isochromosome i(7)(q10), another with a complex aberrant karyotype, were identified. Simultaneously, transition into a myelodysplastic syndrome (MDS) occurred. The brother, who was also afflicted with Shwachman-Diamond syndrome, showed an isochromosome i(7q) as a single aberration. In the fourth patient with severe congenital neutropenia, an add(21)(q22) marker containing a low-level amplification of the AML1 gene was identified at the time point of transition into acute myelogenous leukemia (AML). In summary, we suggest that follow-up of patients with CBMF using chromosome and FISH analyses will be helpful for the early detection of transition into MDS or AML and thus should be an integral part of the clinical management of these patients. Springer-Verlag, 2007 Inherited bone marrow failure syndromes nationallicence Congenital neutropenia nationallicence Chromosomal aberration nationallicence Chromosomal instability nationallicence Leukemogenesis nationallicence Göhring G. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut Karow A. Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany aut Steinemann D. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut Wilkens L. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut Lichter P. Genome Organization, German Cancer Research Center (DKFZ), Heidelberg, Germany aut Zeidler C. Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany aut Niemeyer C. Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany aut Welte K. Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany aut Schlegelberger B. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut Annals of Hematology Springer-Verlag 86/10(2007-10-01), 733-739 0939-5555 86:10<733 2007 86 277 https://doi.org/10.1007/s00277-007-0337-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-007-0337-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Göhring G. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 700 1- Karow A. Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany aut NATIONALLICENCE 700 1- Steinemann D. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 700 1- Wilkens L. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 700 1- Lichter P. Genome Organization, German Cancer Research Center (DKFZ), Heidelberg, Germany aut NATIONALLICENCE 700 1- Zeidler C. Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 700 1- Niemeyer C. Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany aut NATIONALLICENCE 700 1- Welte K. Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 700 1- Schlegelberger B. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/10(2007-10-01), 733-739 0939-5555 86:10<733 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer