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The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute Leukemia
Abstract
Biallelic germline ERCC6L2 variants strongly predispose to bone marrow failure (BMF) and myeloid malignancies characterized by somatic TP53-mutated clones and erythroid predominance. We present a series of 52 subjects (35 families) with ERCC6L2 biallelic germline variants collected retrospectively in 11 centers globally, including follow-up of 1165 person-years. At initial investigations, 32 individuals were diagnosed with BMF and 15 with a hematological malignancy (HM). Subjects presented with 19 different variants across ERCC6L2, and we identified a founder mutation c.1424delT in the Finnish patients. The median age of subjects at baseline was 18 years (range 2-65). Changes in complete blood count (CBC) were mild despite severe bone marrow hypoplasia and somatic TP53 mutations, with no significant difference between subjects with or without (HM). Signs of a progressive disease were increasing TP53 variant allele frequency, dysplasia in megakaryocytes and/or erythroid lineage, and erythroid predominance in bone marrow morphology. The median age at onset of HM was 37.0 years (95% CI: 31.5-42.5; range 12-65). Overall survival (OS) at 3 years was 95% (95% CI: 85-100) and 19% (95% CI: 0-39) for patients with BMF and HM, respectively. Patients with myelodysplastic syndrome or acute myeloid leukemia with mutated TP53 undergoing hematopoietic stem cell transplantation had a poor outcome: 3-year OS is 28% (95% CI: 0-61). Our results demonstrate the importance of early recognition and active surveillance of patients with biallelic germline ERCC6L2 variants.
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“A similar observation has been made in the setting of patients with ERCC6L2 syndrome (associated with impaired DNA repair) who are also at high risk of developing TP53 mutated AML [161].”
From The TP53 tumor suppressor gene: From molecular biology to clinical investigations (2025) · cites this paper as [161]
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FinnGen provides genetic insights from a well-phenotyped isolated population
Kurki, M. I., Karjalainen, J., Palta, P., Sipilä, T. P., Kristiansson, K., Donner, K. M., Reeve, M. P., Laivuori, H., Aavikko, M., Kaunisto, M. A., et al. (2023) · Nature · doi:10.1038/s41586-022-05473-8 · Cited by 4,233
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The TP53 tumor suppressor gene: From molecular biology to clinical investigations
Baliakas, P., & Soussi, T. (2025) · Journal of Internal Medicine · doi:10.1111/joim.20106 · Cited by 50
Metadata
- Authors
- Hakkarainen, M., Kaaja, I., Douglas, S. P. M., Vulliamy, T. J., Dokal, I., Soulier, J., Larcher, L., Peffault de Latour, R., Leblanc, T. M., Sicre de Fontbrune, F., Siitonen, T., Lohi, O., Hellström-Lindberg, E., Barbany, G., Tesi, B., Shimamura, A., Beier, F., Jackson, S. R., Kuperman, A., Falik Zaccai, T. C., Tamary, H., Mecucci, C., Capolsini, I., Jahnukainen, K., Salmenniemi, U., Niinimäki, R., Varilo, T., Kilpivaara, O., & Wartiovaara-Kautto, U.
- Affiliations
- Helsinki University Hospital Comprehensive Cancer Center, University of Helsinki, Finland
- Department of Medical and Clinical Genetics / Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Finland
- Queen Mary University of London, London, United Kingdom
- Hopital Saint-Louis and Université Paris-Cité, Paris, France
- Hopital Saint-Louis and University de Paris, Paris, France
- Saint-Louis, Paris, France
- Hôpital Robert-Debré - APHP, Paris Cedex 19, France
- Hopital Saint Louis APHP France, Paris, France
- Oulu University Hospital, Oulu, Finland
- Tampere University, Faculty of Medicine and Health Technology, Tampere University Hospital, Tays Cancer Centre, Tampere, Finland
- Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden
- Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden, Sweden
- Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, United States
- University Hospital Aachen, Aachen, Germany
- Te Whatu Ora Health New Zealand Counties Manukau, New Zealand
- Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
- Galilee Medical Center, Nahariya, Israel., Nahariya, Israel
- Schneider Children Medical Center of Israel, Petah Tikva, Israel
- University of Perugia, Perugia, Italy
- Hospital "S.Maria della Misericordia", Perugia, perugia, Italy
- University of Helsinki and Helsinki University Hospital, Children's Hospital, and Pediatric Research Center, Helsinki, Finland
- PEDEGO Research Unit, University of Oulu, Oulu, Finland., Finland
- Department of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland, Finland
- Applied Tumor Genomics Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki,, Finland
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2023-03-23
- ISSN
- 0006-4971
- 1528-0020
- Cited by
- 20
- References
- 1
- Language
- en
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- Hakkarainen, M., Kaaja, I., Douglas, S. P. M., Vulliamy, T. J., Dokal, I., Soulier, J., Larcher, L., Peffault de Latour, R., Leblanc, T. M., Sicre de Fontbrune, F., Siitonen, T., Lohi, O., Hellström-Lindberg, E., Barbany, G., Tesi, B., Shimamura, A., Beier, F., Jackson, S. R., Kuperman, A., . . . Wartiovaara-Kautto, U. (2023). The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute Leukemia. Blood. https://doi.org/10.1182/blood.2022019425
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
