Refractory Anemia

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Retrieved

2021-01-23

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Orphanet

Trials

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Genes

TNF, TET2, PTEN, CP, GREM1, MMP1, BMPR1A, FANCB, TBXAS1, COL7A1, RARA, HLA-DRB1, DDX41, MTX1, IL6, TPO, CRP, SF3B1, TP53, GCG, FOXP3, ESR1, ZBTB16, PRTN3, JAK2, EPO, CD34, HLA-DPB1, IL17A, PML

TNF, TET2, PTEN, CP, GREM1, MMP1, BMPR1A, FANCB, TBXAS1, COL7A1, RARA, HLA-DRB1, DDX41, MTX1, IL6, TPO, CRP, SF3B1, TP53, GCG, FOXP3, ESR1, ZBTB16, PRTN3, JAK2, EPO, CD34, HLA-DPB1, IL17A, PML, ZGLP1, EHMT1, CRYGD, GLP1R, IL3, CRABP2, CDKN2A, PRAM1, RBM45, IL4, DMD, TGFB1, BEST1, UQCRFS1, RBP2, RB1, RARS1, F2R, ABCB7, TGM2, THPO, ABCB1, TMEM158, MPO, CXCL8, MMP3, LTA, CDC42EP1, CNTRL, KIT, FADD, IL10, IL1B, XPR1, NAT2, TBC1D9, CD14, CYP26A1, CCR6, ALDH1A1, CDKN2B, PARP1, ACTB, CSF3, DERL1, FTMT, CHD7, RUNX1, MIR221, VDR, TYMS, MIR126, MIR10A, TXNRD1, TRAF2, VEGFA, TICAM2, ILDR1, ASXL1, VIP, COPD, YWHAE, NLRP6, CXCR4, FOSL1, CDR3, NCOA3, TMPRSS6, PPM1D, TNFSF11, STC2, IL34, TRAF1, MIR34A, MIR29B1, MIR29B2, SLC5A5, SLPI, SMS, TRIM21, H3P23, H3P13, LINC02605, STAT5B, TAGLN, TBX1, TBX5, MIR6785, OCLN, TRBV20OR9-2, TDGF1, TDGF1P3, TERT, NR2F1, TGFA, TMED7-TICAM2, MIR642A, TGIF1, MIR421, NCF1, MIR148B, NCOA1, TNFRSF1B, HSD17B6, SAMD9, ZFP42, IL21R, CX3CL1, PADI4, STRA6, ATRNL1, HPSE2, PTPN22, FGF21, PELP1, IL21, PDLIM3, BMP10, G0S2, IL22, ASRGL1, MBL3P, HAMP, REXO1, SOST, RETN, TMED7, CYP26B1, RASL12, WT1-AS, IL23A, CYCS, TREM1, AGBL2, RAB40B, TNFRSF11A, CHST3, NAT10, GGH, ALDH1A2, MTDH, CLDN1, TSLP, USP42, LRAT, IL32, GDPD5, ADIPOQ, AIM2, GDF15, CCL27, CLOCK, MARF1, IRX5, KLF2, NOD1, MYBBP1A, ZNRD2, CXCL13, CD226, DCTN6, EFHC2, TNFSF13B, SHH, PITX2, CCL2, MSH6, LPAR1, ATN1, DRD2, DNMT1, DNASE1L3, NQO1, CD55, CYP2E1, CYP1A2, CYBB, CYBA, CTRB1, CSF2, CSF1R, CSF1, EIF4G1, EPAS1, EPHB2, GATA2, GRN, GRIA1, GLB1, GJA1, GDNF, KAT2A, FUT4, MECOM, FOSB, FOS, FLT3, FHL1, FGF4, F9, CREBBP, CRABP1, CLDN7, ALOX5, AR, FAS, KLK3, APOE, APC, ALPP, ALDH1A3, ATOH1, ALB, ALAS2, AFP, ACTA2, ACR, ACHE, ATHS, BCHE, CCR7, CBL, CDKN2D, CDK2, CDC42, CDK1, CD79B, CD59, C3, CCND1, TSPO, BTK, BSG, BMP4, BMP2, BCL2, GSTM1, GYPA, SCD, GYPB, PIK3CA, PIGR, PDE4D, PAK1, SERPINE1, PAFAH1B1, PCSK6, YBX1, GADD45B, MYCN, MUC4, MOBP, FOXO4, MBL2, LTB, PIK3CB, PIK3CD, PIK3CG, PSMD9, S100A4, RXRA, RET, REG1A, RARG, RAC1, PSEN1, POLD1, PROP1, MAP2K7, MAPK3, MAPK1, PKN1, PPARG, LOXL2, LOX, LEP, HOXD4, ID1, HSPD1, HSPA1B, HSPA1A, HRAS, HOXD9, HOXB2, IFNG, HLA-DRB4, HLA-DRB3, HLA-DPA1, HLA-C, HDC, GYPE, IFI27, IGFBP5, KRT5, ISG20, KLRB1, JUND, JUNB, JUN, ITIH1, ITGAE, IL18, IL1A, IL9, IL7, IL5, IL2RA, IL2, IL1RN, H3P10

Drugs

2-hydroxymethyl-2-methoxymethyl-1-azabicyclo[2,2,2]octan-3-one, Allogeneic ex vivo expanded umbilical cord blood cells, Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Arsenic trioxide ( Arsenic Trioxide Accord, Arsenic trioxide Mylan, Arsenic trioxide medac, TRISENOX ), Asunercept, Azacitidine ( AZACITIDINE ACCORD, AZACITIDINE BETAPHARM, AZACITIDINE CELGENE, AZACITIDINE MYLAN, VIDAZA ), Decitabine ( DACOGEN ), Fully human IgG1 antibody specific for CD33, Humanised IgG4 monoclonal antibody to the human toll-like receptor type 2, Imatinib mesilate ( GLEEVEC, GLIVEC, IMATINIB TEVA, IMATINIB TEVA B.V. ), Lenalidomide ( LENALIDOMIDE ACCORD, REVLIMID ), Lintuzumab, Luspatercept ( REBLOZYL ), Magrolimab, Mocetinostat, NEDD8-activating enzyme (NAE) inhibitor, Rigosertib, Sapacitabine, Sotatercept, Stem/progenitor cells derived from ex vivo expanded allogeneic umbilical cord blood cells, Thalidomide ( THALIDOMIDE CELGENE, THALOMID ), Val-Leu-Gln-Glu-Leu-Asn-Val-Thr-Val (Pr1 nanopeptide, sequence 169-177, of proteinase 3), haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.

Epidemiology

Exact prevalence is unknown but RCUD accounts for about 10% to 20% of patients with MDS which has a prevalence estimated to be 1/25,000 to 1/33,000. The disease tends to occur in older adults with a male predominance.

Clinical description

Clinical features are often nonspecific and are related to the underlying cytopenia. Patients are often asymptomatic and cytopenia is detected on routine blood tests. RCUD often has a prolonged and sometimes indolent course. Most patients with RCUD have refractory anemia (unilineage erythroid dysplasia), and very rarely refractory neutropenia (unilineage granulocytic dysplasia) or thrombocytopenia (unilineage megakaryocytic dysplasia). Anemia may be normocytic/normochromic but is often macrocytic. Blasts are absent or account for less than 1% in peripheral blood or less than 5% in bone marrow, and no Auer rods are present.

Etiology

The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.

Prognosis

Median survival is reported to be 6 to 7 years and 5% to 10% of patients progress to acute leukemia.