who mds classification 2022

These authors contributed equally: Yudi Zhang, Junying Wu. Thus, the up-coming 5th edition of WHO Classification (WHO 2022) emphasizes a genetic basis for defining diseases. and lymphoid (Alaggio et Andrew H. Wei, Frederick R. Appelbaum, Charles Craddock, Courtney D. DiNardo, Herv Dombret, Benjamin L. Ebert, Pierre Fenaux, Lucy A. Godley, Robert P. Hasserjian, Richard A. Larson, Ross L. Levine, Yasushi Miyazaki, Dietger Niederwieser, Gert Ossenkoppele, Christoph Rllig, Jorge Sierra, Eytan M. Stein, Martin S. Tallman, Hwei-Fang Tien, 4. Basic concepts of classification are similar between WHO 2022 and ICC. Thank you for visiting nature.com. Blood 2022; 140 (Supplement 1): 555556. KaplanMeier survival curves for overall survival in MDS patients. Leukemia. Khoury JD et al. Subjects with MDS-LB-SLD had higher concentrations of haemoglobin (93 versus 81g/L; P=0.001), WBCs (3.80 versus 2.5710 E+9/L; P=0.002) and neutrophils (2.14 versus 1.21 10E+9/L; P=0.001) and were more often classified as low-risk in IPSS-R (P=0.003) and IPSS-M (P=0.004; TableS8). 2005;90:112832. Matsuda A, Germing U, Jinnai I, Iwanaga M, Misumi M, Kuendgen A, et al. Blood Adv. Once our doctors know the MDS subtype, we can select the most-effective treatment, decide when to start therapy, and predict the course of the disease. 2017;8:73483500. Among the 813 subjects diagnosed as MDS using the WHO 2022 criteria, 617 subjects (76%) had 1 mutation including 241 subjects (30%) with 1 mutation, 167 subjects (20%) with 2 mutations and 209 subjects (26%) with 3 mutations. We will also provide detailed information about the new WHO classification on our mll.com website. DNA from 260 subjects was sequenced with a267- genes panel fromApril 2020 to September 2021 (TableS3). The remaining 813 subjects were diagnosed as: MDS-5q (N = 11 [1%]), MDS-SF3B1 (N = 70 [9%]), MDS-biTP53 (N = 53 [7%]), MDS-LB (N = 293 [36%]), MDS-h (N = 80 [10%]), MDS-IB1 (N = 161 [20%]), MDS-IB2 (N = 103 [13%]) and MDS-f (N = 42 [5%]) and MDS-biTP53 (N = 53 [7%]). F +49 89 99017-111. 2022;1:1399420. During the last years, substantive work has been done in the field of genetics, leading to dynamic changes with respect to defining specific sub-entities. MDS Classification - Do We Still Have to Count Blasts? Furthermore, there is increasing recognition that some higher-risk MDS have considerable biologic and prognostic overlap with MDS-related AML. While this can be explained within the new ICC category MDS/AML, a small number of patients (~ 1%) will be differently classified as AML or MDS based on the phrasing of the definitions. Ready to start planning your care? Bernard E, Tuechler H, Greenberg PL, Hasserjian RP, Arango Ossa JE, Nannya Y, et al. Nat Commun. Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jdersten M, Jansson M, et al. ISSN 0887-6924 (print), Comparison of the revised 4th (2016) and 5th (2022) editions of the World Health Organization classification of myelodysplastic neoplasms, https://doi.org/10.1038/s41375-022-01718-7, http://creativecommons.org/licenses/by/4.0/, The new WHO and ICC classification systems for myelodysplastic syndromes and their impact on the clinical laboratory, Acute myeloid leukemia cells and MSC-derived exosomes inhibiting transformation in myelodysplastic syndrome, Classification and nomenclature of hematologic diseases. 2016;7:6317788. People with the 1st 2 categories now re-identified as MDS-LB in the WHO 2022 classification. Download. Virchows Arch. Amongst subjects without the genetic abnormalities defined above, 80 previously classified as MDS-SLD/MLD or MDS-U were re-classified as MDS-h and the remaining 293 as MDS-LB. Myelodysplastic Syndrome, Unclassifiable (MDS-U) With 1% Blasts Is a Distinct Subgroup of MDS-U With a Poor Prognosis. info@mll.com, Report request,sample notification,requests for diagnostics See this image and copyright information in PMC. Median survival of subjects classified as MDS using the WHO 2016 criteria was 4 years (95% Confidence Interval [CI], 36, 60 months) decreasing to 45 months (34, 56 months) using the WHO 2022 criteria. Oncotarget. Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. Hypocellular myelodysplastic syndromes (h-MDS): from clinical description to immunological characterization in the Italian multi-center experience. Complementary to these findings, the morphologically defined subgroups were substantially reduced from 13% AML-NOS to 5% AML with differentiation. 2011 May;86(5):393-8. doi: 10.1002/ajh.21984. Metro adds new . PubMed Chromosome identification and cytogenetic descriptors were applied following the International System for Human Cytogenetic Nomenclature [10]. Bernard E, Nannya Y, Hasserjian RP, Devlin SM, Tuechler H, Medina-Martinez JS, et al. Haematologica. 3. TJQ, ZFX, SQQ, LJP, BL, HJW, XY, JYG, and QYG recruited subjects and collected the data. Oncotarget. International Consensus Classification of MDS: 2022 updates Blood. Please send me an e-mail., Executive management 81377 Mnchen, T +49 89 99017-0 Three categories in the WHO 2016 classification of this sub-type include: (1) 1% blood blasts; (2) pancytopenia and single lineage dysplasia; and (3) absence of significant dysplasia but with MDS-defining cytogenetic abnormalities [2]. (Learn about these tests and how MDS is diagnosed.). Disclaimer. doi: 10.1101/mcs.a006256. Westers TM, Ireland R, Kern W, Alhan C, Balleisen JS, Bettelheim P, et al. In addition, 8 further cases were classified as AML with mutated NPM1, and 5 cases as AML with mutated CEBPA. Subjects with MDS-h had a significantly lower frequency of MDS-related mutations including ASXL1 (8% versus 22%; P=0.003) and U2AF1 (15% versus 30%, P=0.007) [13]. Our data suggest MDS-biTP53 and MDS-f should be recognized as distinct sub-types as in the WHO 2022 classification. Feng G, Gale RP, Cui W, Cai W, Huang G, Xu Z, et al. doi: 10.1182/blood-2012-03-420489. Huang H, Qin T, Xu Z, Shi Z, Li B, Pan L, et al. 4A, andS2). hemoglobin, < 10 g/dL; platelets, < 100 10, Diagnosis of MDS may be made with milder levels of cytopenia (rarely); at least 1 cytopenia must be present, Threshold for dysplasia remains at 10% dysplastic cells but may still be at that level in nonneoplastic causes of cytopenias; caution advised, Same cytogenetic abnormalities remain MDS - defining as in the 2008 WHO in a patient with cytopenia (i.e. removed "refractory anemia" and "refractory cytopenia" from terminology, start with "myelodysplastic syndrome" followed by appropriate modifier). Subjects with MDS-biTP53 and MDS-f in the WHO 2022 classification had significantly briefer survivals compared with other sub-types (10 months [8, 12 months] and (15 months [8, 23 months]; Fig. Bennett JM, Orazi A. A summary of the World Health Organization (WHO) 5th edition (2022) classification of myelodysplastic neoplasms (MDS) was recently published in LEUKEMIA [1]. Leukemia 2022) outlines the process of recruiting the authors and creating the concept and Pathology Outlines - WHO-HAEM5 and ICC comparison - MDS / MPN Print 2023 Apr. Subjects classified as MDS-IB1 and MDS-IB2 had similar clinical and hematological co-variates and survivals (TableS5; Fig. 2009;94:26468. Am J Hematol. The new sub-type emphasizes low blasts and provides a better description of those persons. Our scientists pursue every aspect of cancer researchfrom exploring the biology of genes and cells, to developing immune-based treatments, uncovering the causes of metastasis, and more. Google Scholar. International Consensus Classification 2022 for myeloproliferative doi: https://doi.org/10.1182/blood-2022-162326. Methods: 1451 non-therapy-related cases with MDS or AML diagnosed according to WHO 2017 were included. Myelodysplastic Syndromes - MDS: Subtypes and Classification World Health Organization (WHO) classification of disorders which bridge the myelodysplastic (MDS) and myeloproliferative neoplasm (MPN) categories at initial presentation. PubMed Central AML with recurrent genetic abnormalities with <20% blasts is excluded. -, Valent P, Orazi A, Steensma DP, Ebert BL, Haase D, Malcovati L, et al. We re-classified 53 subjects as MDS-biTP53, most commonly those with excess blasts (34/53; 64%). Comparison of the revised 4th (2016) and 5th (2022) editions of the Gao L, Hyter S, Zhang D, Kelting S, Woodroof J, Abdallah AO, Yacoub A, McGuirk J, Abdelhakim H, Godwin AK, Cui W. Int J Lab Hematol. updated, purely morphological criteria recede more and more into the Leukemia 2022. Cold Spring Harb Mol Case Stud. MDS with biallelic TP53 inactivation (MDS-biTP53) is introduced as a new sub-type defined by the presence of multi-hit TP53 mutations and supersedes other MDS sub-types. Strupp C, Nachtkamp K, Hildebrandt B, Giagounidis A, Haas R, Gattermann N, et al. Do you have questions regarding this article or do you need further information? volume36,pages 28752882 (2022)Cite this article. Claudia Haferlach & Gregor Hoermann Leukemia ( 2023) Cite this article Metrics Abstract In parallel to the 5th edition of the World Health Organization Classification of Haematolymphoid Tumours. Myelodysplastic syndromes (MDS) are classified using the World Health Organization (WHO) classification system, which was most recently updated in 2016. 2012;120:245465. Median survival of subjects classified as MDS using the WHO 2022 criteria was 45 months (95% Confidence Interval [CI], 34, 56 months). Cardiovascular Disease. Survival according to theWHO 2022 classification for MDS (A). Blood. In conclusion, our analyses support the refinements made in the WHO 2022 proposal. PubMedGoogle Scholar. Careers. In total, 12 MDS samples, 8 of them EB-2, were upstaged to AML based on DGA (MECOM-r: n=5; KMT2A-r: n=1; NPM1: n=6). 2022 Dec;101(12):2645-2654. doi: 10.1007/s00277-022-05002-7. NPM1 mutations, common in AML, also occur in persons with MDS, are associated with Auer rods and can rapidly progress to AML [13, 16]. International Consensus Classification of MDS: 2022 updates We summarize the key points from the new ICC of myeloid neoplasms, in particular referring to MDS. Applying the WHO 2022 classification 30 subjects with an NPM1 mutation were re-classified as AML, previously classified as MDS with excess blast type2 (MDS-EB2; n=13), MDS with multi-lineage dysplasia (MDS-MLD; n=9), MDS with excess blast type1 (MDS-EB1; n=6) and MDS-U (n=2) according to theWHO 2016 criteria. FOIA Prussian blue stain was done on bone marrow slides to identify and enumerate ring sideroblasts. Chen Y, Niu T, Chen T, Wu Y, Zou D, Shi C, Wu Y, Zhang Z, Wu N, Zhang Y, Yan X, Sheng L, Lv D, Ouyang G, Chen X, Mu Q. Diagnostic criteria for MDS with low blasts and isolated del(5q) (MDS-5q) was unchanged. Max-Lebsche-Platz 31 2022;36:194750. 30 subjects previously classified as MDS with an NPM1 mutation were re-classified as acute myeloid leukaemia (AML). Liu L, Cui W, Zhang H, Xu Z, Zhang F, Zheng Y, et al. Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions. Article 2013;37:6470. Dr. phil. content. Clinical, histopathological and molecular characterization of hypoplastic myelodysplastic syndrome. 2023 Feb 21:2023.02.20.528987. doi: 10.1101/2023.02.20.528987. 74 A major change to the 2016 revision of the WHO classification is the addition of a section on myeloid neoplasms with germ line predisposition, which includes cases of MDS . The new diagnostic criteria for myelodysplasia-related acute myeloid Have morphologic dysplasia and proliferative advantage of one or more of the myeloid differentiating cell lines. Hasserjian RP, Orazi A, Orfao A, Rozman M, Wang SA. The threshold of 10% may explain these discordances and a threshold of 40% dysplastic megakaryocyte has been proposed [37]. Pathology Outlines - WHO classification - MDS Alaggio et al. Genetic differentiation in myeloid/lymphoid neoplasia with eosinophilia has been refined as well. WHO, World Health Organization, MDS myelodysplastic syndromes(neoplasms), 5q- isolated 5q deletion, biTP53 biallelic TP53 inactivation, LB low blasts, MDS-SF3B1 MDS with low blasts and SF3B1 mutation, MDS-h MDS hypoplastic, IB1/2 increased blasts type1/2, MDS-f MDS with fibrosis, IPSS-R Revised International Prognostic Scoring System, IPSS-M International Prognostic Scoring Systems-Molecular. al. Overall survival of MDS patients stratified according to the IPSS-R and IPSS-M (A) Repartition of IPSS-R/IPSS-M risk categories and WHO 2022 sub-types (B). WHO system for MDS subtypes. Max-Lebsche-Platz 31 Pursuing basic and translational research across 9 programs and 100+ labs, Focusing on clinical cancer research and population health, Bridging the lab and the clinic through translational research, Fostering interdisciplinary collaborations between laboratory scientists and clinicians, Partnering with other academic and research institutions, Offering state-of-the-art resources for our researchers, Offering a curriculum with a focus on cancer, Connecting college seniors to future careers in biomedicine, Classification and Staging of Myelodysplastic Syndrome (MDS), More About Myelodysplastic Syndrome (MDS), Diagnosis of Myelodysplastic Syndrome (MDS), MDS with single-lineage dysplasia (MDS-SLD), MDS with multilineage dysplasia (MDS-MLD), 2023 Memorial Sloan Kettering Cancer Center, Human Oncology & Pathogenesis Program (HOPP), Gerstner Sloan Kettering Graduate School of Biomedical Sciences, High school & undergraduate summer programs, Myelodysplastic Syndrome (MDS) Risk Factors, Treatment for Myelodysplastic Syndrome (MDS), Myelodysplastic Syndrome (MDS) Doctors & Other Experts, Clinical Trials and Research for Myelodysplastic Syndrome (MDS), Living Beyond Myelodysplastic Syndrome (MDS), (Learn about these tests and how MDS is diagnosed. It helps that, for each entity, both the essential as well as the desirable diagnostic criteria have been defined very specifically by the WHO. You need to enable JavaScript to run this app. Subjects re-classified as MDS-biTP53 and MDS-f had significantly briefer median survivals compared with other MDS sub-types (10 months, [8, 12 months] and 15 months [8, 23 months]). Presence of a SF3B1 mutation and low blasts is considered consistent with a MDS diagnosis (MDS-SF3B1) and supersedes the prior entity of MDS with ring sideroblasts (MDS-RS). Internet Explorer). Chin J Hematol. These changes have resulted in an overall simplification of the MDS classification scheme from 8 separate entities (including 1 that was genetically defined) in the revised 4th edition WHO . In addition, 8 former MDS-EB-2 cases were categorized as AML according to ICC criteria (NPM1: n=4; CEBPA: n=4). The site is secure. Myeloid neoplasms with an erythroid predominance (erythroid precursors 50% of all BM cells): Calculate blast percentage using all nucleated BM cells in the denominator - prior included only nonerythroid, Many cases of erythroid / myeloid subtype of acute erythroid leukemia will now be classified as MDS with excess blasts, RARS (refractory anemia with ring sideroblasts) is now MDS-RS with single lineage dysplasia, New section recognizing germline predisposition to MDS, MDS / MPN and AML, What counts as cytopenia? Diagnosis requires correlation of bone marrow and peripheral . The entity MDS, unclassifiable has been eliminated. Since then, a great deal of knowledge has been gained specifically 34 of these subjects came from the 53 (64%) MDS-biTP53 previously diagnosed as MDS-EB. Nazha A, Seastone D, Radivoyevitch T, Przychodzen B, Carraway HE, Patel BJ, et al. Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia. Background: Until now, myeloid malignancies are classified according to the revised 4th edition of World Health Organization Classification of Haematolymphoid Tumours, published in 2017 (WHO 2017). In subjects with <12 metaphases we used fluorescence in situ hybridization (FISH) analyses including probes for -5/-5q, -7/-7q, +8, -20q, 17p- and -Y. DNA from diagnosis bone marrow mononuclear cells was used for next-generation sequencing (NGS) as described [11]. We tested the prognostic value of numbers of dysplastic lineages in subjects with MDS-LB. The new ICC represents a major revision from previous classification systems. Continuous co-variates were described by median and IQR and categorical co-variates were summarized with count and relative frequency. Oncotarget. Consistent with these findings the WHO 2022 re-classifies these subjects to AML. KaplanMeier survival curves for overall. 2021;39:122333. Cytogenetic abnormalities not sufficient (also remain from 2008 criteria): Clonal disorders of multipotent bone marrow stem cells with cytopenia(s), dysplasia in one or more of the major myeloid cell lines, ineffective or disorderly hematopoiesis and increased risk of development of AML, Note: myelodysplasia also means abnormal development of spinal cord, "Ineffective hematopoiesis" means cytopenia (anemia most common) despite a cellular / hypercellular marrow with normal or increased precursors for one or more cell lines; cytopenias may be due to aberrant expression of various cytokines and accelerated apoptosis, 25 - 45% of patients develop acute myeloid leukemia (AML), Must rule out MDS in any adult with unexplained cytopenias or monocytosis, Threshold for cytopenia(s): hemoglobin < 10g/dL, absolute neutrophil count < 1.8 10, Dysplasia should be evident in > 10% of cells in one or more myeloid cell lines, Mean age 65 years; may affect any age but less than 50 years is uncommon, Symptoms are related to cytopenias or defective platelet aggregation but 50% are initially asymptomatic (, Cellular marrow but peripheral blood cytopenias with dysplastic changes in hematopoietic cells, Bone marrow biopsy / aspirate is necessary to confirm diagnosis and obtain material for additional studies; must correlate findings with complete clinical information; by definition, myeloblasts are < 20% (if 20% or more, classify as AML), Multiple clonal chromosomal abnormalities, severe cytopenias (< 0.5 neutrophils or < 50K platelets), high % blasts in marrow or any blasts in blood, lack of ringed sideroblasts, abnormal localization of immature granulocyte precursors in bone marrow biopsy, Patients with Auer rods and < 5% blasts usually progress rapidly to AML or death (, Patients with RA, RARS or RCMD with peripheral blasts (even < 1%) have similar prognosis as refractory anemia with excess blasts type 1 (, Complex ( > 3 abnormalities) or chromosome 7 anomalies, Younger age, normal / moderate neutropenia and thrombocytopenia, low blast percentage in marrow with no blasts in blood, no Auer rods in blasts, ringed sideroblasts present, normal karyotype or -Y, 5q- or 20q- alone, Note: In severely cytopenic patients, buffy coat smears of peripheral blood can be used to perform differential, Usually hypercellular or normocellular, 10% are hypocellular; iron stores often increased, Disordered (dysplastic) differentiation affecting all 3 lineages, Can predict morphologic erythroid dysplasia by the pattern of expression of CD105, CD71, H-ferritin in glycophorin A positive cells (, Aberrant maturation patterns in granulopoeisis can predict morphologic dysplasia in granulocytic lineage (, Erythroid cells show unusual shapes, redundant cell membranes, large vacuoles, duplication of nuclear membrane and nuclear blebs, Maturing neutrophils show decreased primary and secondary granules of abnormal size and shape, Monocytes show increased cytoplasmic microfilaments and abnormal granules, Megakaryocytes and micromegakaryocytes show decreased granules and demarcation membranes, platelets are hypogranular or have large granules, Recommended to use karyotyping or FISH in all suspected patients, MDS has no specific cytogenetic abnormalities but abnormalities are present in 30% of de novo MDS and 80% of therapy related MDS, Common findings are complete or partial loss of 5 or 7, +8, 20q- or complex chromosomal abnormalities, t(3;5) cases are due to NPM / MLF1 fusion, usually young males with good prognosis (, Cytogenetic abnormalities such as deletions of 7q, 5q, 13q, 11q, 12p, 9q and balanced translocations such as t(11;16), t(3;21), t(1;3) are considered presumptive evidence of MDS, in the setting of persistent cytopenias of undetermined origin, 20% or more blasts, t(8;21), inv(16) or t(15;17) with any percentage of blasts, Vitamin B12 and folate deficiency, chemotherapeutic agents, granulocyte colony stimulating factor, paroxysmal nocturnal hemoglobinuria, Storage of bone marrow aspirates in EDTA at room temperature (, Aplastic anemia (lower PCNA and CD34 expression) (, Therefore, need appropriate clinical history to correlate with morphologic and cytogenetic findings. official website and that any information you provide is encrypted In contrast, the now abandoned AML with mutated RUNX1 was mainly re-classified as AML-MR (37/48). The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. The New WHO Classification 2022 | MLL The World Health Organization (WHO) developed a classification system for MDS to standardize the definitions of the different subtypes. Diagnostic procedures were according to recent recommendation [3]. Five years If material is not included in the articles Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. The WHO 2022 classification integrates MDS-SLD and MDS-MLD in the WHO 2016 classification into MDS-LB in the WHO 2022 classification. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. A combination of flow antibody panel (TableS1) was designed to assess MDS associated phenotypic abnormalities according to The International and European Leukemia Net Working Group Guidelines [9]. Comparison of the revised 4th (2016) and 5th (2022) editions of the World Health Organization classification of myelodysplastic neoplasms. As far as we are concerned, the update of the WHO classification represents a major step forward, as this makes a more detailed biological definition of the entities possible, taking into account the genetic parameters.
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