Macroglobulinemia, Waldenstrom, Susceptibility To, 2

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

MYD88, IL6, BTK, PAX5, CXCR4, BCL2, IGH, KRT20, CD19, MS4A1, MIR155, TP53, CXCL12, IRAK1, STOML2, IL4, IRF4, UCHL5, CD40LG, CD27, HAS1, MYOM2, USP14, SDC1, CDR3, SYK, TP73, ZAP70, IL10, ANPEP

MYD88, IL6, BTK, PAX5, CXCR4, BCL2, IGH, KRT20, CD19, MS4A1, MIR155, TP53, CXCL12, IRAK1, STOML2, IL4, IRF4, UCHL5, CD40LG, CD27, HAS1, MYOM2, USP14, SDC1, CDR3, SYK, TP73, ZAP70, IL10, ANPEP, MALT1, NAMPT, TNFSF13B, LPL, TNFSF13, MYC, PIK3CD, SMUG1, AKT1, BACH2, MTOR, AICDA, FCGR3A, FCER2, BCR, TCL1A, RAPH1, ARHGAP24, SLC28A1, EGLN3, TNFSF10, TNFRSF13C, TNFSF11, ARID1A, PRIMA1, IGHV3OR16-7, AIMP2, GRAP2, SLC35B2, LAPTM5, MIR206, MIR23B, XPO1, XBP1, VWF, VEGFA, MIR363, LOC102723407, CLEC12A, HDAC9, TCL1B, ANP32B, POLDIP2, IBTK, RNF19A, IGHV4-34, MAPK8IP2, TNFAIP3, ACSBG1, IGHV3-69-1, IGHV3-23, CD274, BLNK, ZHX2, ADAMTS13, IRAK4, LEF1, TLR7, AHSA1, COLEC10, CXCL13, EGLN1, EXOC2, TNFRSF13B, PXN, TNF, CD70, HCK, HAS2, GLI2, FGFR3, EFNB2, CTRL, CTNNB1, MAPK14, CRP, CRK, CD52, CDKN2A, CD79B, CD79A, CD40, HMMR, CD38, TNFRSF8, CD22, CD6, CCND3, CBL, SERPING1, BSG, BRAF, BLM, BCL9, BCL6, CCND1, ANXA5, HCLS1, IL1B, AURKA, PLCG2, STAT5B, STAT5A, SPIB, SPI1, SOAT1, CCL3, RAF1, PTPRC, MAPK3, MAPK1, PRKCD, POU2F2, POU2F1, POU2AF1, PIK3CG, IL2RA, PIK3CB, PIK3CA, NOTCH2, NOS2, NOS1, NCAM1, CD200, MMP8, MCL1, KIT, ITGAM, ITGA4, ISG20, IL4R, LOC102724971

Drugs

18-(p-(, Acalabrutinib ( CALQUENCE ), Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus

18-(p-(, Acalabrutinib ( CALQUENCE ), Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Bendamustine for 50 ml admixture ( BENDEKA ), Cladribine ( LITAK ), Everolimus ( AFINITOR, VOTUBIA ), Ibrutinib ( IMBRUVICA ), Idelalisib ( ZYDELIG ), Iodine (131I) tositumomab, Oprozomib, 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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For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to Waldenstrom macroglobulinemia, see 153600.

Mapping

McMaster et al. (2006) performed a genomewide linkage analysis in 11 high-risk families with WM that were informative for linkage, for a total of 122 individuals with DNA samples, including 34 patients with WM and 10 patients with IgM monoclonal gammopathy of undetermined significance (IgM MGUS). The strongest evidence of linkage was found on chromosome 1q and 4q when patients with WM and with IgM MGUS were both considered affected; nonparametric linkage scores were 2.5 (p = 0.0089) and 3.1 (p = 0.004), respectively. Other locations suggestive of linkage were found on chromosomes 3 and 6. Results of 2-locus linkage analysis were consistent with independent effects.

Molecular Genetics

See WM1 (153600) and MYD88 (602170.0004) for discussion of a commonly recurring somatic mutation in patients with Waldenstrom macroglobulinemia.