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Journal of Hematology & Oncology
Published in: Journal of Hematology & Oncology 1/2014

Open Access 01-12-2014 | Research

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

Authors: Catarina Lundin, Erik Forestier, Mette Klarskov Andersen, Kirsi Autio, Gisela Barbany, Lucia Cavelier, Irina Golovleva, Sverre Heim, Kristiina Heinonen, Randi Hovland, Johann H Johannsson, Eigil Kjeldsen, Ann Nordgren, Lars Palmqvist, Bertil Johansson, the Swedish Cytogenetic Leukemia Study Group (SCLSG), the NOPHO Leukemia Cytogenetic Study Group (NLCSG)

Published in: Journal of Hematology & Oncology | Issue 1/2014

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Abstract

Background

Children with Down syndrome (DS) have an increased risk for acute lymphoblastic leukemia (ALL). Although previous studies have shown that DS-ALL differs clinically and genetically from non-DS-ALL, much remains to be elucidated as regards genetic and prognostic factors in DS-ALL.

Methods

To address clinical and genetic differences between DS-ALL and non-DS-ALL and to identify prognostic factors in DS-ALL, we ascertained and reviewed all 128 pediatric DS-ALL diagnosed in the Nordic countries between 1981 and 2010. Their clinical and genetic features were compared with those of the 4,647 B-cell precursor (BCP) ALL cases diagnosed during the same time period.

Results

All 128 DS-ALL were BCP ALL, comprising 2.7% of all such cases. The 5-year event-free survival (EFS) and overall survival (OS) were significantly (P = 0.026 and P = 0.003, respectively) worse for DS-ALL patients with white blood cell counts ≥50 × 109/l. The age distributions varied between the DS and non-DS cases, with age peaks at 2 and 3 years, respectively; none of the DS patients had infant ALL (P = 0.029). The platelet counts were lower in the DS-ALL group (P = 0.005). Abnormal karyotypes were more common in non-DS-ALL (P < 0.0001), and there was a significant difference in the modal number distribution, with only 2% high hyperdiploid DS-ALL cases (P < 0.0001). The 5-year EFS and 5-year OS were significantly worse for DS-ALL (0.574 and 0.691, respectively) compared with non-DS-ALL (0.783 and 0.894, respectively) in the NOPHO ALL-1992/2000 protocols (P < 0.001).

Conclusions

The present study adds further support for genetic and clinical differences between DS-ALL and non-DS-ALL.
Appendix
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Metadata
Title
Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries
Authors
Catarina Lundin
Erik Forestier
Mette Klarskov Andersen
Kirsi Autio
Gisela Barbany
Lucia Cavelier
Irina Golovleva
Sverre Heim
Kristiina Heinonen
Randi Hovland
Johann H Johannsson
Eigil Kjeldsen
Ann Nordgren
Lars Palmqvist
Bertil Johansson
the Swedish Cytogenetic Leukemia Study Group (SCLSG)
the NOPHO Leukemia Cytogenetic Study Group (NLCSG)
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Journal of Hematology & Oncology / Issue 1/2014
Electronic ISSN: 1756-8722
DOI
https://doi.org/10.1186/1756-8722-7-32

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