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  • Hakkarainen, M (author)

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • 2023-03-23
  • American Society of Hematology,2023

Numbers

  • LIBRIS-ID:oai:prod.swepub.kib.ki.se:236952636
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:236952636URI
  • https://doi.org/10.1182/blood.2022019425DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:153318613URI

Supplementary language notes

  • Language:English
  • Summary in:English

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Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • gratis
  • 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.

Added entries (persons, corporate bodies, meetings, titles ...)

  • Kaaja, I (author)
  • Douglas, SPM (author)
  • Vulliamy, T (author)
  • Dokal, I (author)
  • Soulier, J (author)
  • Larcher, L (author)
  • Peffault de Latour, R (author)
  • Leblanc, T (author)
  • Sicre de Fontbrune, F (author)
  • Siitonen, T (author)
  • Lohi, O (author)
  • Hellström-Lindberg, EKarolinska Institutet (author)
  • Barbany, GKarolinska Institutet (author)
  • Tesi, BKarolinska Institutet (author)
  • Shimamura, A (author)
  • Beier, F (author)
  • Jackson, S (author)
  • Kuperman, AA (author)
  • Falik Zaccai, T (author)
  • Tamary, H (author)
  • Mecucci, C (author)
  • Capolsini, I (author)
  • Jahnukainen, K (author)
  • Salmenniemi, U (author)
  • Niinimäki, R (author)
  • Varilo, T (author)
  • Kilpivaara, O (author)
  • Wartiovaara-Kautto, U (author)
  • Karolinska Institutet (creator_code:org_t)

Related titles

  • In:Blood: American Society of Hematology141:23, s. 2853-28661528-00200006-4971

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