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Myelodysplastic syndrome with excess blasts

MedGen UID:
8066
•Concept ID:
C0002894
•
Neoplastic Process
Synonyms: Anemia, Refractory, with Excess of Blasts; Leukemia, Smoldering; Leukemia, Smouldering; Leukemias, Smoldering; RAEB; RAEM; Refractory Anemia with Excess of Blasts; Smoldering Leukemia; Smoldering Leukemias; Smouldering Leukemia
SNOMED CT: Refractory anemia with excess blasts (398623004); RAEB - Refractory anemia with excess blasts (398623004); Refractory anemia with excess blasts (128847002); Myelodysplastic syndrome with excess blasts (128847002); Myelodysplastic syndrome with excess blasts (398623004); Myelodysplastic syndrome with increased blasts (128847002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0019454
Orphanet: ORPHA86839

Definition

Refractory anemia with excess blasts (RAEB) is a frequent severe subtype of myelodysplastic syndrome (MDS; see this term) characterized by cytopenias with unilineage or multilineage dysplasia and 5% to 19% blasts in bone marrow or blood. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic syndrome with excess blasts
Follow this link to review classifications for Myelodysplastic syndrome with excess blasts in Orphanet.

Professional guidelines

PubMed

Genomewide copy number alteration screening of circulating plasma DNA: potential for the detection of incipient tumors.
Lenaerts L, Vandenberghe P, Brison N, Che H, Neofytou M, Verheecke M, Leemans L, Maggen C, Dewaele B, Dehaspe L, Vanderschueren S, Dierickx D, Vandecaveye V, Amant F, Vermeesch JR
Ann Oncol 2019 Jan 1;30(1):85-95. doi: 10.1093/annonc/mdy476. PMID: 30371735

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024

Recent clinical studies

Etiology

WT1 gene mutations impact post-transplant relapse in myelodysplastic syndrome with excess blasts 2 patients.
Guo W, Zhang H, Wang M, Zheng Y, Cao Y, Zhang X, Zhai W, Zhang R, Yang D, Wei J, He Y, Ma Q, Xia Y, Pang A, Feng S, Han M, Jiang E
Ann Hematol 2024 Aug;103(8):2827-2836. Epub 2024 Jul 6 doi: 10.1007/s00277-024-05870-1. PMID: 38969929
Outcomes of transplant-eligible patients with myelodysplastic syndrome with excess blasts registered in an observational study: The JALSG-CS11-MDS-SCT.
Nakagawa N, Ishiyama K, Usuki K, Takada S, Tomikawa T, Handa H, Katsuoka Y, Hirano D, Sezaki N, Sumi M, Fujisawa S, Taniguchi Y, Mugitani A, Yoshimura T, Ohtsuka E, Takase K, Suehiro Y, Ota S, Kajiguchi T, Maeda T, Yamamoto M, Ohtake S, Katsumi A, Kiyoi H, Matsumura I, Miyazaki Y
Ann Hematol 2024 Jan;103(1):307-320. Epub 2023 Nov 8 doi: 10.1007/s00277-023-05527-5. PMID: 37940714
Poor pretransplantation minimal residual disease clearance as an independent prognostic risk factor for survival in myelodysplastic syndrome with excess blasts: A multicenter, retrospective cohort study.
Ma YY, Wei ZL, Xu YJ, Shi JM, Yi H, Lai YR, Jiang EL, Wang SB, Wu T, Gao L, Gao L, Kong PY, Wen Q, Bai H, Li Y, Cao YG, Li QC, Zhang ZM, Liu BC, Su Y, Lai XY, Ma X, Cheng TT, Luo Y, Zhang X, Zhang C
Cancer 2023 Jul 1;129(13):2013-2022. Epub 2023 Mar 23 doi: 10.1002/cncr.34762. PMID: 36951498
Molecular characterization and prognosis of mutant TP53 acute myeloid leukemia and myelodysplastic syndrome with excess blasts.
Shen K, Hu DY, Zhang ZB, Guo YS, Zhang FH, Chen SN
Int J Lab Hematol 2023 Jun;45(3):344-352. Epub 2023 Mar 1 doi: 10.1111/ijlh.14030. PMID: 36860196
Comparison of myeloid blast counts and variant allele frequencies of gene mutations in myelodysplastic syndrome with excess blasts and secondary acute myeloid leukemia.
Chen X, Othus M, Wood BL, Walter RB, Becker PS, Percival ME, Abkowitz JL, Appelbaum FR, Estey EH
Leuk Lymphoma 2021 May;62(5):1226-1233. Epub 2020 Dec 19 doi: 10.1080/10428194.2020.1861267. PMID: 33345655

Diagnosis

Implications of the 5(th) Edition of the World Health Organization Classification and International Consensus Classification of Myeloid Neoplasm in Myelodysplastic Syndrome With Excess Blasts and Acute Myeloid Leukemia.
Lee C, Kim HN, Kwon JA, Yoon SY, Jeon MJ, Yu ES, Kim DS, Choi CW, Yoon J
Ann Lab Med 2023 Sep 1;43(5):503-507. Epub 2023 Apr 21 doi: 10.3343/alm.2023.43.5.503. PMID: 37080752Free PMC Article
Poor pretransplantation minimal residual disease clearance as an independent prognostic risk factor for survival in myelodysplastic syndrome with excess blasts: A multicenter, retrospective cohort study.
Ma YY, Wei ZL, Xu YJ, Shi JM, Yi H, Lai YR, Jiang EL, Wang SB, Wu T, Gao L, Gao L, Kong PY, Wen Q, Bai H, Li Y, Cao YG, Li QC, Zhang ZM, Liu BC, Su Y, Lai XY, Ma X, Cheng TT, Luo Y, Zhang X, Zhang C
Cancer 2023 Jul 1;129(13):2013-2022. Epub 2023 Mar 23 doi: 10.1002/cncr.34762. PMID: 36951498
Molecular characterization and prognosis of mutant TP53 acute myeloid leukemia and myelodysplastic syndrome with excess blasts.
Shen K, Hu DY, Zhang ZB, Guo YS, Zhang FH, Chen SN
Int J Lab Hematol 2023 Jun;45(3):344-352. Epub 2023 Mar 1 doi: 10.1111/ijlh.14030. PMID: 36860196
Coexistence of plasma cell neoplasia and myelodysplastic syndrome with excess blasts: case reports and literature review.
Yan W, Qu XY, Li H, Li YC, Li Y, Yao K, Yang W, Wang HH
Ann Palliat Med 2021 Dec;10(12):12431-12440. doi: 10.21037/apm-21-3210. PMID: 35016480
Mixed Phenotype Acute Leukemia that Evolved from Myelodysplastic Syndrome with Excess Blasts.
Kim M, Zang DY, Lee J, Park JY, Chung Y, Lee YK
Lab Med 2020 May 6;51(3):288-295. doi: 10.1093/labmed/lmz054. PMID: 31504737

Therapy

Outcomes of transplant-eligible patients with myelodysplastic syndrome with excess blasts registered in an observational study: The JALSG-CS11-MDS-SCT.
Nakagawa N, Ishiyama K, Usuki K, Takada S, Tomikawa T, Handa H, Katsuoka Y, Hirano D, Sezaki N, Sumi M, Fujisawa S, Taniguchi Y, Mugitani A, Yoshimura T, Ohtsuka E, Takase K, Suehiro Y, Ota S, Kajiguchi T, Maeda T, Yamamoto M, Ohtake S, Katsumi A, Kiyoi H, Matsumura I, Miyazaki Y
Ann Hematol 2024 Jan;103(1):307-320. Epub 2023 Nov 8 doi: 10.1007/s00277-023-05527-5. PMID: 37940714
The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents.
Park HS, Son BR, Shin KS, Byeon S, Kim HK, Yang Y, Jeong Y, Han HS, Lee KH, Kwon J
Acta Haematol 2021;144(6):649-659. Epub 2021 Jul 7 doi: 10.1159/000516793. PMID: 34233332
Pegylated liposomal doxorubicin for myeloid neoplasms.
Zhang C, Yao H, Kong PY, Liu Y, Gao L, Gao L, Ma YY, Liu J, Tan X, Zhang X
Anticancer Drugs 2019 Oct;30(9):948-952. doi: 10.1097/CAD.0000000000000811. PMID: 31283544Free PMC Article
Histone Deacetylase Inhibition with Panobinostat Combined with Intensive Induction Chemotherapy in Older Patients with Acute Myeloid Leukemia: Phase I Study Results.
Wieduwilt MJ, Pawlowska N, Thomas S, Olin R, Logan AC, Damon LE, Martin T, Kang M, Sayre PH, Boyer W, Gaensler KML, Anderson K, Munster PN, Andreadis C
Clin Cancer Res 2019 Aug 15;25(16):4917-4923. Epub 2019 May 31 doi: 10.1158/1078-0432.CCR-19-0171. PMID: 31152020
Effect of recombinant human granulocyte-macrophage colony-stimulating factor in patients with myelodysplastic syndrome with excess blasts.
Herrmann F, Lindemann A, Klein H, Lübbert M, Schulz G, Mertelsmann R
Leukemia 1989 May;3(5):335-8. PMID: 2654495

Prognosis

Implications of the 5(th) Edition of the World Health Organization Classification and International Consensus Classification of Myeloid Neoplasm in Myelodysplastic Syndrome With Excess Blasts and Acute Myeloid Leukemia.
Lee C, Kim HN, Kwon JA, Yoon SY, Jeon MJ, Yu ES, Kim DS, Choi CW, Yoon J
Ann Lab Med 2023 Sep 1;43(5):503-507. Epub 2023 Apr 21 doi: 10.3343/alm.2023.43.5.503. PMID: 37080752Free PMC Article
Poor pretransplantation minimal residual disease clearance as an independent prognostic risk factor for survival in myelodysplastic syndrome with excess blasts: A multicenter, retrospective cohort study.
Ma YY, Wei ZL, Xu YJ, Shi JM, Yi H, Lai YR, Jiang EL, Wang SB, Wu T, Gao L, Gao L, Kong PY, Wen Q, Bai H, Li Y, Cao YG, Li QC, Zhang ZM, Liu BC, Su Y, Lai XY, Ma X, Cheng TT, Luo Y, Zhang X, Zhang C
Cancer 2023 Jul 1;129(13):2013-2022. Epub 2023 Mar 23 doi: 10.1002/cncr.34762. PMID: 36951498
Molecular characterization and prognosis of mutant TP53 acute myeloid leukemia and myelodysplastic syndrome with excess blasts.
Shen K, Hu DY, Zhang ZB, Guo YS, Zhang FH, Chen SN
Int J Lab Hematol 2023 Jun;45(3):344-352. Epub 2023 Mar 1 doi: 10.1111/ijlh.14030. PMID: 36860196
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies.
Bernués M, González T, Corchete LA, Santos S, Durán MA, López-Andrade B, Riso LL, Martínez-Serra J, Ramos R, Iglesias J, Royo I, Rosell J
Cancer Genet 2022 Jun;264-265:60-65. Epub 2022 Mar 26 doi: 10.1016/j.cancergen.2022.03.004. PMID: 35397254
Coexistence of plasma cell neoplasia and myelodysplastic syndrome with excess blasts: case reports and literature review.
Yan W, Qu XY, Li H, Li YC, Li Y, Yao K, Yang W, Wang HH
Ann Palliat Med 2021 Dec;10(12):12431-12440. doi: 10.21037/apm-21-3210. PMID: 35016480

Clinical prediction guides

Outcomes of transplant-eligible patients with myelodysplastic syndrome with excess blasts registered in an observational study: The JALSG-CS11-MDS-SCT.
Nakagawa N, Ishiyama K, Usuki K, Takada S, Tomikawa T, Handa H, Katsuoka Y, Hirano D, Sezaki N, Sumi M, Fujisawa S, Taniguchi Y, Mugitani A, Yoshimura T, Ohtsuka E, Takase K, Suehiro Y, Ota S, Kajiguchi T, Maeda T, Yamamoto M, Ohtake S, Katsumi A, Kiyoi H, Matsumura I, Miyazaki Y
Ann Hematol 2024 Jan;103(1):307-320. Epub 2023 Nov 8 doi: 10.1007/s00277-023-05527-5. PMID: 37940714
t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies.
Bernués M, González T, Corchete LA, Santos S, Durán MA, López-Andrade B, Riso LL, Martínez-Serra J, Ramos R, Iglesias J, Royo I, Rosell J
Cancer Genet 2022 Jun;264-265:60-65. Epub 2022 Mar 26 doi: 10.1016/j.cancergen.2022.03.004. PMID: 35397254
Coexistence of plasma cell neoplasia and myelodysplastic syndrome with excess blasts: case reports and literature review.
Yan W, Qu XY, Li H, Li YC, Li Y, Yao K, Yang W, Wang HH
Ann Palliat Med 2021 Dec;10(12):12431-12440. doi: 10.21037/apm-21-3210. PMID: 35016480
The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents.
Park HS, Son BR, Shin KS, Byeon S, Kim HK, Yang Y, Jeong Y, Han HS, Lee KH, Kwon J
Acta Haematol 2021;144(6):649-659. Epub 2021 Jul 7 doi: 10.1159/000516793. PMID: 34233332
Acute erythroid leukemia with <20% bone marrow blasts is clinically and biologically similar to myelodysplastic syndrome with excess blasts.
Wang SA, Patel KP, Pozdnyakova O, Peng J, Zuo Z, Dal Cin P, Steensma DP, Hasserjian RP
Mod Pathol 2016 Oct;29(10):1221-31. Epub 2016 Jul 15 doi: 10.1038/modpathol.2016.118. PMID: 27443511

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    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Myelodysplastic Syndromes, 2024

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