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Genes Chromosomes Cancer. 2019 Oct;58(10):689-697. doi: 10.1002/gcc.22760. Epub 2019 Apr 30.

Comprehensive analysis of isolated der(1;7)(q10;p10) in a large international homogenous cohort of patients with myelodysplastic syndromes.

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Clinics of Hematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany.
Department of Hematology and Medical Oncology III, Technische Universität München, Munich, Germany.
MLL Munich Leukemia Laboratory, Munich, Germany.
Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-Universität, Düsseldorf, Germany.
Metropolitan Research and Treatment Center for Blood Disorders (MRTC Japan), Tokyo, Japan.
Institute of Human Genetics and Anthropology, Heinrich-Heine-Universität, Düsseldorf, Germany.
Josep Carreras Leukemia Research Institute (IJC), ICO-Hospital GermansTrias i Pujol, Universitat Autonòma de Barcelona, Barcelona, Spain.
Division of Hematology, Oncology and Stem Cell Transplantation, University of Freiburg, Freiburg, Germany.
Medical Clinic and Policlinic 1, Hematology and Cellular Therapy, Leipzig University Hospital, Leipzig, Germany.
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Onkologie Köln, Outpatient Clinic for Hematology and Oncology, Köln, Germany.
Department of Stem Cell Transplantation, University of Hamburg-Eppendorf, Hamburg, Germany.
Outpatient Clinic for Hematology and Oncology, Kassel, Germany.
Département d'hématologie biologique, Hôpital Pasteur, Nice, France.


The karyotype is a strong independent prognostic factor in myelodysplastic syndromes (MDS). Since the implementation of the new comprehensive cytogenetic scoring system for MDS, chromosome 7 anomalies are no longer generally assigned to poor risk features but are thoroughly separated. However, der(1;7)(q10;p10), hereinafter der(1;7), is merged into the group labeled "any other single" and belongs to the intermediate risk group, just by definition due to lack of adequate clinical data. The aim of our international collaborative was to clarify the "real" prognostic impact of der(1;7) on a homogenous and well-documented data base. We performed detailed analysis of 63 MDS patients with isolated der(1;7) constituting the largest cohort hitherto reported. Furthermore, clinical data are compared with those of patients with isolated del(7q) and isolated monosomy 7. Median overall survival (OS) of patients with der(1;7) is 26 months (hazard ratio (HR) 0.91 for del(7q) vs der(1;7) and 2.53 for monosomy 7 vs der(1;7)). The der(1;7) is associated with profound thrombocytopenia most probably causing the reduced OS which is in striking contrast to the low risk for AML transformation (HR 3.89 for del(7q) vs der(1;7) and 5.88 for monosomy 7 vs der(1;7)). Molecular karyotyping indicates that der(1;7) is generated in a single step during mitosis and that a chromosomal imbalance rather than a single disrupted gene accounts for malignancy. Thus, the current cytogenetic scoring system assigning isolated der(1;7) to the intermediate risk group is now confirmed by a sufficient data set.


MDS; clinical characterization; isolated der(1;7); prognosis


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