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Myelodysplastic syndrome with excess blasts-2

MedGen UID:
962564
•Concept ID:
CN278404
•
Disease or Syndrome
Synonyms: MDS-EB-2; myelodysplastic syndrome with excess blasts-2; myelodysplastic syndrome with Excess blasts-2; RAEB-2; RAEB-II; refractory anaemia with excess blasts type 2; refractory anemia with excess blasts type 2; Refractory anemia with excess blasts type 2
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:0015041
Orphanet: ORPHA100020

Definition

A very severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic syndrome with excess blasts-2

Professional guidelines

PubMed

Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.
Liu Y, Calzone K, McReynolds LJ
Semin Hematol 2024 Dec;61(6):370-378. Epub 2024 Sep 22 doi: 10.1053/j.seminhematol.2024.09.003. PMID: 39443230Free PMC Article
Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S, Girardi K, Fioredda F, Pedace L, Arcuri L, Badolato R, Bonanomi S, Borlenghi E, Cirillo E, Coliva T, Consonni F, Conti F, Farruggia P, Gambineri E, Guerra F, Locatelli F, Mancuso G, Marzollo A, Masetti R, Micalizzi C, Onofrillo D, Piccini M, Pignata C, Raddi MG, Santini V, Vendemini F, Biondi A, Saettini F
J Clin Immunol 2023 Nov;43(8):2192-2207. Epub 2023 Oct 14 doi: 10.1007/s10875-023-01583-8. PMID: 37837580

Curated

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

Recent clinical studies

Etiology

Prevalence and significance of DDX41 gene variants in the general population.
Cheloor Kovilakam S, Gu M, Dunn WG, Marando L, Barcena C, Nik-Zainal S, Mohorianu I, Kar SP, Fabre MA, Quiros PM, Vassiliou GS
Blood 2023 Oct 5;142(14):1185-1192. doi: 10.1182/blood.2023020209. PMID: 37506341
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
GATA2 deficiency.
Hsu AP, McReynolds LJ, Holland SM
Curr Opin Allergy Clin Immunol 2015 Feb;15(1):104-9. doi: 10.1097/ACI.0000000000000126. PMID: 25397911Free PMC Article

Diagnosis

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E, Bono E, Gallì A, Elena C, Ferrari J, Fiorelli N, Pozzi S, Ferretti VV, Sarchi M, Rizzo E, Camilotto V, Boveri E, Cazzola M, Malcovati L
Blood 2023 Aug 17;142(7):643-657. doi: 10.1182/blood.2022019304. PMID: 37216690Free PMC Article
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J
Blood 2018 Feb 15;131(7):717-732. Epub 2017 Nov 16 doi: 10.1182/blood-2017-09-806489. PMID: 29146883
Primary immunodeficiencies appearing as combined lymphopenia, neutropenia, and monocytopenia.
Dotta L, Badolato R
Immunol Lett 2014 Oct;161(2):222-5. Epub 2013 Dec 4 doi: 10.1016/j.imlet.2013.11.018. PMID: 24316408

Therapy

Mechanisms of resistance to hypomethylating agents and BCL-2 inhibitors.
Desai SR, Chakraborty S, Shastri A
Best Pract Res Clin Haematol 2023 Dec;36(4):101521. Epub 2023 Oct 20 doi: 10.1016/j.beha.2023.101521. PMID: 38092478
Venetoclax/decitabine for a pediatric patient with chronic myelomonocytic leukemia.
Molina JC, Asare JM, Tuschong L, West RR, Calvo KR, Persky R, Boyce AM, Hammoud DA, Holland SM, Hickstein D, Shah NN
Pediatr Blood Cancer 2021 Mar;68(3):e28865. Epub 2020 Dec 27 doi: 10.1002/pbc.28865. PMID: 33369023Free PMC Article
Disseminated Mycosis by Arthrocladium fulminans Jeopardizing a Patient with GATA2 Deficiency.
Egenlauf B, Schuhmann M, Giese T, Junghanss T, Stojkovic M, Tintelnot K, de Hoog S, Greil J, Richter E, Vehresschild M, Heussel CP, Herth FJF, Kreuter M
Respiration 2019;97(5):472-475. Epub 2019 Mar 29 doi: 10.1159/000493429. PMID: 30928982
GATA2 Deficiency in a Pediatric Patient.
Mojica AM, Elizalde A
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):2021-2022. Epub 2019 Mar 17 doi: 10.1016/j.jaip.2019.02.024. PMID: 30894283
Monozygotic twins with GATA2 deficiency: same haploidentical-related donor, different severity of GvHD.
Shah NN, Parta M, Baird K, Rafei H, Cole K, Holland SM, Hickstein DD
Bone Marrow Transplant 2017 Nov;52(11):1580-1582. Epub 2017 Aug 21 doi: 10.1038/bmt.2017.180. PMID: 28825694Free PMC Article

Prognosis

Mechanisms of resistance to hypomethylating agents and BCL-2 inhibitors.
Desai SR, Chakraborty S, Shastri A
Best Pract Res Clin Haematol 2023 Dec;36(4):101521. Epub 2023 Oct 20 doi: 10.1016/j.beha.2023.101521. PMID: 38092478
Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Cuccuini W, Collonge-Rame MA, Auger N, Douet-Guilbert N, Coster L, Lafage-Pochitaloff M
Curr Res Transl Med 2023 Oct-Dec;71(4):103423. Epub 2023 Oct 18 doi: 10.1016/j.retram.2023.103423. PMID: 38016422
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Human dendritic cell immunodeficiencies.
Bigley V, Cytlak U, Collin M
Semin Cell Dev Biol 2019 Feb;86:50-61. Epub 2018 Feb 23 doi: 10.1016/j.semcdb.2018.02.020. PMID: 29452225
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.
Freeman AF
J Pediatric Infect Dis Soc 2018 Dec 26;7(suppl_2):S79-S82. doi: 10.1093/jpids/piy114. PMID: 30590619Free PMC Article

Clinical prediction guides

Mechanisms of resistance to hypomethylating agents and BCL-2 inhibitors.
Desai SR, Chakraborty S, Shastri A
Best Pract Res Clin Haematol 2023 Dec;36(4):101521. Epub 2023 Oct 20 doi: 10.1016/j.beha.2023.101521. PMID: 38092478
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV, Arnold DE
Curr Hematol Malig Rep 2023 Aug;18(4):89-97. Epub 2023 May 29 doi: 10.1007/s11899-023-00695-7. PMID: 37247092
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A
Br J Haematol 2022 Nov;199(4):482-495. Epub 2022 Jun 26 doi: 10.1111/bjh.18330. PMID: 35753998Free PMC Article
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS, Kozyra EJ, Wlodarski MW
Best Pract Res Clin Haematol 2020 Sep;33(3):101197. Epub 2020 Jul 29 doi: 10.1016/j.beha.2020.101197. PMID: 33038986Free PMC Article
Human dendritic cell immunodeficiencies.
Bigley V, Cytlak U, Collin M
Semin Cell Dev Biol 2019 Feb;86:50-61. Epub 2018 Feb 23 doi: 10.1016/j.semcdb.2018.02.020. PMID: 29452225

Recent systematic reviews

GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
Rukerd MRZ, Mirkamali H, Nakhaie M, Alizadeh SD
BMC Infect Dis 2024 Nov 4;24(1):1239. doi: 10.1186/s12879-024-10145-1. PMID: 39497062Free PMC Article
Prognostic significance of GATA2 in patients with MDS/AML: a systematic review and meta-analysis.
Han X, Liu W, Kang Z, Li D
Ann Hematol 2024 Dec;103(12):4943-4952. Epub 2024 Jul 19 doi: 10.1007/s00277-024-05899-2. PMID: 39026028
"Oral Manifestations of Patients with Inherited Defect in Phagocyte Number or Function" a systematic review.
Ziaei H, Tonkaboni A, Shamshiri A, Rezaei N
Clin Immunol 2021 Aug;229:108796. Epub 2021 Jul 14 doi: 10.1016/j.clim.2021.108796. PMID: 34271191
Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review.
Johnson JA, Yu SS, Elist M, Arkfeld D, Panush RS
Clin Rheumatol 2015 Sep;34(9):1643-5. Epub 2015 Mar 5 doi: 10.1007/s10067-015-2905-2. PMID: 25739845

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    Clinical resources

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    Curated

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

    Reviews

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