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Acute Myeloid Leukemia

Germline alterations in a consecutive series of acute myeloid leukemia

Leukemia volume 32, pages 2282–2285 (2018)Cite this article

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Familial clustering of acute myeloid leukemia (AML) is a well-recognized phenomenon and several predisposing gene variants have been identified in affected families. The complexity of genetic information requires active collaboration between hematologists, researchers, and counseling units [1]. The importance of genetic information is also highlighted in the new World Health Organization (WHO) classification of myeloid neoplasms [2] and the European Leukemia Network Clinical Guidelines [3].

Targeted sequencing methods are routinely used in leukemia diagnostics. These methods are applicable to germline analyses as well, but are still rarely used in clinical practice. Germline variants may increase the risk of cancer (patient, family), and may influence, for example, selection of donors for stem cell transplantation. These variants may also carry important information regarding patient risk for suboptimal response or deleterious side effects from therapy.

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Acknowledgements

This study was funded by grants from the Academy of Finland (#274474, #312492, and #284538), the Sigrid Juselius Foundation, Helsinki University Hospital Comprehensive Cancer Research Funding, and The Finnish Funding Agency for Technology and Innovation (TEKES). We are extremely grateful to patients who participated and thus made this study possible. We thank FuGU and the FIMM Technology Center for excellent exome/Sanger sequencing services; Minna Suvela, Siv Knaappila, Annukka Ruokolainen, and Pihla Siipola for excellent technical assistance. The Aaltonen laboratory, especially Riku Katainen, is thanked for help in bioinformatics and the exome control files.

Author contributions

OK and UW-K designed the study. UW-K collected the clinical data, analyzed the results, and drafted the manuscript. EAMH analyzed the exome data, validated the mutations, and drafted the manuscript together with OK and UW-K. EP brought new ideas to the data analysis and contributed to the statistical analyses. JS, KK, and CH organized the exome sequencing at FIMM. KP organized the exome sequencing and major funding for the project. All authors have read and approved the manuscript.

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Author notes

  1. These authors contributed equally: Ulla Wartiovaara-Kautto, Elina A. M. Hirvonen.

Authors and Affiliations

  1. Department of Hematology, Helsinki University Hospital Comprehensive Cancer Center and University of Helsinki, Helsinki, Finland

    Ulla Wartiovaara-Kautto & Kimmo Porkka

  2. Genome-Scale Biology/Research Programs Unit, and Department of Medical and Clinical Genetics/Medicum, University of Helsinki, Helsinki, Finland

    Elina A. M. Hirvonen & Outi Kilpivaara

  3. Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany

    Esa Pitkänen

  4. Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland

    Caroline Heckman, Janna Saarela & Kaisa Kettunen

  5. Hematology Research Unit Helsinki, University of Helsinki, Helsinki, Finland

    Kimmo Porkka

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  1. Ulla Wartiovaara-Kautto
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Correspondence to Outi Kilpivaara.

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Wartiovaara-Kautto, U., Hirvonen, E.A.M., Pitkänen, E. et al. Germline alterations in a consecutive series of acute myeloid leukemia. Leukemia 32, 2282–2285 (2018). https://doi.org/10.1038/s41375-018-0049-5

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