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Myelodysplastic syndrome with excess blasts-1

MedGen UID:
231145
•Concept ID:
C1318550
•
Neoplastic Process
Synonyms: MDS-EB-1; MDS-EB-1 - myelodysplastic syndrome with excess blasts-1; Myelodysplastic neoplasm with increased blasts-1; Myelodysplastic Syndrome with Excess Blasts-1; myelodysplastic syndrome with excess blasts-1; myelodysplastic syndrome with Excess blasts-1; RAEB-1; RAEB-I; refractory anaemia with excess blasts type 1; Refractory anemia with excess blasts I; refractory anemia with excess blasts type 1; Refractory anemia with excess blasts type 1; Refractory anemia with excess blasts-1
SNOMED CT: Refractory anemia with excess blasts I (397338009); Refractory anemia with excess blasts-1 (415283002); Myelodysplastic syndrome with excess blasts-1 (415283002); MDS-EB-1 - myelodysplastic syndrome with excess blasts-1 (415283002); MDS-EB-1 - myelodysplastic syndrome with excess blasts-1 (397338009); Myelodysplastic syndrome with excess blasts-1 (397338009); Myelodysplastic neoplasm with increased blasts-1 (397338009)
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:0015040
Orphanet: ORPHA100019

Definition

A severe type of RAEB characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no 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-1
Follow this link to review classifications for Myelodysplastic syndrome with excess blasts-1 in Orphanet.

Recent clinical studies

Diagnosis

A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.
Mallik N, Singh N, Jamwal M, Chhabra S, Hira JK, Malhotra P, Das R, Sharma P
Cancer Genet 2022 Jan;260-261:53-56. Epub 2021 Jul 20 doi: 10.1016/j.cancergen.2021.07.001. PMID: 34330696

Prognosis

A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.
Mallik N, Singh N, Jamwal M, Chhabra S, Hira JK, Malhotra P, Das R, Sharma P
Cancer Genet 2022 Jan;260-261:53-56. Epub 2021 Jul 20 doi: 10.1016/j.cancergen.2021.07.001. PMID: 34330696

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