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The clinical pictur...
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia
- Article/chapterEnglish2023
Publisher, publication year, extent ...
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2023-03-23
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American Society of Hematology,2023
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:236952636
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http://kipublications.ki.se/Default.aspx?queryparsed=id:236952636URI
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https://doi.org/10.1182/blood.2022019425DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:153318613URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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gratis
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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 ...)
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Kaaja, I
(author)
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Douglas, SPM
(author)
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Vulliamy, T
(author)
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Dokal, I
(author)
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Soulier, J
(author)
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Larcher, L
(author)
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Peffault de Latour, R
(author)
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Leblanc, T
(author)
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Sicre de Fontbrune, F
(author)
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Siitonen, T
(author)
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Lohi, O
(author)
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Hellström-Lindberg, EKarolinska Institutet
(author)
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Barbany, GKarolinska Institutet
(author)
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Tesi, BKarolinska Institutet
(author)
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Shimamura, A
(author)
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Beier, F
(author)
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Jackson, S
(author)
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Kuperman, AA
(author)
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Falik Zaccai, T
(author)
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Tamary, H
(author)
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Mecucci, C
(author)
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Capolsini, I
(author)
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Jahnukainen, K
(author)
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Salmenniemi, U
(author)
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Niinimäki, R
(author)
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Varilo, T
(author)
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Kilpivaara, O
(author)
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Wartiovaara-Kautto, U
(author)
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Karolinska Institutet
(creator_code:org_t)
Related titles
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In:Blood: American Society of Hematology141:23, s. 2853-28661528-00200006-4971
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Hakkarainen, M
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Kaaja, I
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Douglas, SPM
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Vulliamy, T
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Dokal, I
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Soulier, J
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Larcher, L
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Peffault de Lato ...
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Leblanc, T
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Sicre de Fontbru ...
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Siitonen, T
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Lohi, O
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Hellström-Lindbe ...
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Barbany, G
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Tesi, B
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Shimamura, A
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Beier, F
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Jackson, S
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Kuperman, AA
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Falik Zaccai, T
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Tamary, H
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Mecucci, C
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Capolsini, I
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Jahnukainen, K
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Salmenniemi, U
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Niinimäki, R
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Varilo, T
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Kilpivaara, O
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Wartiovaara-Kaut ...
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Karolinska Institutet