This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
269,00 € per year
only 22,42 € per issue
Buy this article
- Purchase on SpringerLink
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Grüneberg H. Siderocytes: a new kind of erythrocytes. Nature. 1941;148:114–5.
Ducamp S, Fleming MD. The molecular genetics of sideroblastic anemia. Blood. 2019;133:59–69.
Jaffe ES, Harris NL, Stein H, Vardiman JW, eds. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC; 2001.
Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365:1384–95.
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, et al. SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS. Blood. 2020;136:157–70.
Swoboda DM, Kanagal-Shamanna R, Brunner AM, Cluzeau T, Chan O, Al Ali N, et al. Marrow ring sideroblasts are highly predictive for TP53 mutation in MDS with excess blasts. Leukemia. 2022;36:1189–92.
Huber S, Haferlach T, Meggendorfer M, Hutter S, Hoermann G, Summerer I, et al. Mutations in spliceosome genes in myelodysplastic neoplasms and their association to ring sideroblasts. Leukemia. 2023;37:500–2.
Steensma DP, Hecksel KA, Porcher JC, Lasho TL. Candidate gene mutation analysis in idiopathic acquired sideroblastic anemia (refractory anemia with ringed sideroblasts). Leuk Res. 2007;31:623–8.
Fujiwara T, Fukuhara N, Ichikawa S, Kobayashi M, Okitsu Y, Onishi Y, et al. A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review. Ann Hematol. 2017;96:1955–7.
Sankaran VG, Ulirsch JC, Tchaikovskii V, Ludwig LS, Wakabayashi A, Kadirvel S, et al. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Investig. 2015;125:1665–9.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.
Nikpour M, Scharenberg C, Liu A, Conte S, Karimi M, Mortera-Blanco T, et al. The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts. Leukemia. 2013;27:889–96.
del Rey M, Benito R, Fontanillo C, Campos-Laborie FJ, Janusz K, Velasco-Hernández T, et al. Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts. PLoS One. 2015;10:e0126555.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011;96:808–13.
Mehri M, Zarin M, Ardalani F, Najmabadi H, Azarkeivan A, Neishabury M. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. Blood Cells Mol Dis. 2018;71:39–44.
Acknowledgements
This work was supported by the Spanish Institute of Health—Instituto de Salud Carlos III—with participation of funds from FEDER (European Union) (PI19/00374 and PI22/00102, Andrés Jerez; PI22/01633, José Cervera; PI20/00881, David Valcárcel), Fundación AstraZeneca VI Premios Jóvenes Investigadores (2022, Andrés Jerez), CIBERONC (CB16/12/00284, José Cervera), Fundació La Marató de TV3 grant (228/C/2020, José Cervera), Generalitat Valenciana (PROMETEO CIPROM/2022/34, José Cervera), a Río Hortega fellowship (CM22/0019, Marta Santiago) and a Spanish Society of Haematology research grant (FEHH 2020, Tzu Hua Chen-Liang).
Author information
Authors and Affiliations
Contributions
SN-J and AJ designed the study, collected, assembled, analyzed, interpreted the data; performed statistical analyses and wrote the manuscript; SH, MG-S, THC-L, ST-E, SC-T, MS and AL collected, assembled, analyzed, and interpreted the data; TB, FMH, AL, MS, ND-V, FH, BX, LH, MA, IM-C, MT, AB, JC, FB, DV, CH, MD-C, MJM, and TH, recruited patients and collected the clinical data; and all authors revised the manuscript and approved the final version.
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Novoa-Jáuregui, S., Huber, S., Gabarrós-Subirà, M. et al. Myelodysplastic neoplasms with ring sideroblasts without SF3B1 mutations in adults: enrichment of germline variants in congenital sideroblastic anemia genes. Leukemia 39, 1791–1794 (2025). https://doi.org/10.1038/s41375-025-02629-z
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41375-025-02629-z
