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      CEBPA double mutations associated with ABO antigen weakness in hematologic diseases ∗

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          Key Points

          • •

            ABO antigen weakness is associated with mutations of RUNX1, CEBPA, NRAS, U2AF1, and PTPN11.

          • •

            CEBPA double mutations were closely related to ABO antigen weakness, whereas single mutation showed no such association.

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          Abstract

          ABO antigen weakness is rarely observed in ABO typing for transfusion. Hematologic diseases and associated gene mutations have been suggested as potential causes of this phenomenon, yet the precise etiology has not been elucidated. Through ABO typing and genetic analysis data conducted over 7 years, we have reconfirmed the association between ABO antigen weakness and hematologic diseases, especially acute myeloid leukemia (odds ratio [OR], 2.55; 95% confidence interval [CI], 1.12-5.83) and myelodysplastic syndrome (OR, 6.94; 95% CI, 2.86-16.83), and discovered previously unidentified candidate genes, CEBPA (OR, 43.70; 95% CI, 18.12-105.40), NRAS (OR, 3.37; 95% CI, 1.46-7.79), U2AF1 (OR, 8.12; 95% CI, 2.86-23.03), and PTPN11 (OR, 4.52; 95% CI, 1.51-13.50), seemingly associated with this phenomenon. Among these, CEBPA double mutations displayed a significant association, with ABO antigen weakness being observed in 20 of the 25 individuals (80.0%) possessing these mutations. From this study, new factors associated with ABO antigen weakness have been identified.

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          Most cited references27

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          Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

          Marilyn M Li, Michael Datto, Eric Duncavage … (2017)
          Widespread clinical laboratory implementation of next-generation sequencing-based cancer testing has highlighted the importance and potential benefits of standardizing the interpretation and reporting of molecular results among laboratories. A multidisciplinary working group tasked to assess the current status of next-generation sequencing-based cancer testing and establish standardized consensus classification, annotation, interpretation, and reporting conventions for somatic sequence variants was convened by the Association for Molecular Pathology with liaison representation from the American College of Medical Genetics and Genomics, American Society of Clinical Oncology, and College of American Pathologists. On the basis of the results of professional surveys, literature review, and the Working Group's subject matter expert consensus, a four-tiered system to categorize somatic sequence variations based on their clinical significances is proposed: tier I, variants with strong clinical significance; tier II, variants with potential clinical significance; tier III, variants of unknown clinical significance; and tier IV, variants deemed benign or likely benign. Cancer genomics is a rapidly evolving field; therefore, the clinical significance of any variant in therapy, diagnosis, or prognosis should be reevaluated on an ongoing basis. Reporting of genomic variants should follow standard nomenclature, with testing method and limitations clearly described. Clinical recommendations should be concise and correlate with histological and clinical findings.
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            Role of RUNX1 in hematological malignancies.

            Raman Sood, Yasuhiko Kamikubo, Paul Liu (2017)
            RUNX1 is a member of the core-binding factor family of transcription factors and is indispensable for the establishment of definitive hematopoiesis in vertebrates.RUNX1is one of the most frequently mutated genes in a variety of hematological malignancies. Germ line mutations inRUNX1cause familial platelet disorder with associated myeloid malignancies. Somatic mutations and chromosomal rearrangements involvingRUNX1are frequently observed in myelodysplastic syndrome and leukemias of myeloid and lymphoid lineages, that is, acute myeloid leukemia, acute lymphoblastic leukemia, and chronic myelomonocytic leukemia. More recent studies suggest that the wild-typeRUNX1is required for growth and survival of certain types of leukemia cells. The purpose of this review is to discuss the current status of our understanding about the role of RUNX1 in hematological malignancies.
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              Implications of NRAS mutations in AML: a study of 2502 patients.

              Ulrike Bacher, Torsten Haferlach, Claudia Schoch … (2006)
              We analyzed 2502 patients with acute myeloid leukemia at diagnosis for NRAS mutations around the hot spots at codons 12, 13, and 61 and correlated the results to cytomorphology, cytogenetics, other molecular markers, and prognostic relevance of these mutations. Two hundred fifty-seven (10.3%) of 2502 patients had NRAS mutations (NRAS(mut)). Most mutations (112 of 257; 43.6%) were found at codon 12, mostly resulting in changes from glycine to asparagine. The history of AML did not differ significantly in association with NRAS mutations. The subgroups with inv(16)/t(16;16) and inv(3)/t(3;3) showed a significantly higher frequency of NRAS(mut) (50 of 133, 37.6% [P < .001], and 11 of 41, 26.8% [P = .004], respectively) than the total cohort. In addition, in these 2 subgroups, mutations of codon 61 were significantly overrepresented (both P < .001). In contrast, NRAS mutations were significantly underrepresented in t(15;17) (2 of 102; 2%; P = .005) in the subgroup with MLL/11q23 rearrangements (3 of 77; 3.9%; P = .061) and in the complex aberrant karyotype (4 of 258; 1.6%; P < .001). Overall, we did not find a significant prognostic impact of NRAS(mut) for overall survival, event-free survival, and disease-free survival. However, there was a trend to better survival in most subgroups, especially when other molecular markers (FLT3-LM, MLL-PTD, and NPM) were taken into account.
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                Author and article information

                Contributors
                Soon Sung Kwon
                Journal
                Journal ID (nlm-ta): Blood Adv
                Journal ID (iso-abbrev): Blood Adv
                Title: Blood Advances
                Publisher: The American Society of Hematology
                ISSN (Print): 2473-9529
                ISSN (Electronic): 2473-9537
                Publication date PMC-release: 17 February 2024
                Publication date Collection: 26 March 2024
                Publication date (Electronic): 17 February 2024
                Volume: 8
                Issue: 6
                Pages: 1487-1493
                Affiliations
                [1 ]Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea
                [2 ]Department of Obstetrics and Gynecology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, Korea
                [3 ]Dxome, Seoul, Korea
                Author notes
                [∗ ]Correspondence: Soon Sung Kwon, Department of Laboratory Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seoul 03722, Korea; kwonss@ 123456yuhs.ac
                Article
                Publisher Item ID: S2473-9529(24)00111-3
                DOI: 10.1182/bloodadvances.2023011572
                PMC ID: 10951908
                PubMed ID: 38359363
                SO-VID: aac6f8d3-aa40-413b-b8f2-221f714e2896
                Copyright © © 2024 by The American Society of Hematology. Licensed under Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0), permitting only noncommercial, nonderivative use with attribution. All other rights reserved.
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 1 September 2023
                Date accepted : 31 January 2024
                Categories
                Subject: Transfusion Medicine

                Data availability:

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