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. 2018 May;103(5):e207-e210.
doi: 10.3324/haematol.2017.177444. Epub 2018 Jan 25.

IGHV segment utilization in immunoglobulin gene rearrangement differentiates patients with anti-myelin-associated glycoprotein neuropathy from others immunoglobulin M-gammopathies

Affiliations

IGHV segment utilization in immunoglobulin gene rearrangement differentiates patients with anti-myelin-associated glycoprotein neuropathy from others immunoglobulin M-gammopathies

Jean-Sebastien Allain et al. Haematologica. 2018 May.
No abstract available

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Figures

Figure 1.
Figure 1.
Genomic profile of anti-MAG neuropathy. (A) Comparison of MYD88, CXCR4, and TP53 gene mutational status in the anti-MAG, WM and IgM-MGUS control groups. All patients were tested with both HTS and AS-PCR for MYD88L265P and CXCR4S338X. Below, results of clonality assessment with IGH gene rearrangement sequencing revealed an over-representation of VH4-34 segments (red circles) in the anti-MAG group (P=0.008). (B) Sunburst representation of the utilization of VDJ segments in the dominant clonotypes identified in the anti-MAG, WM and IgM-MGUS groups (C) Heatmap showing the IGHV segment utilization frequency (% of dominant clonotypes) in anti-MAG samples, as compared to the WM and IgM-MGUS control groups. *indicates a significant VH4-34 over-representation in anti-MAG clonotypes vs. WM (P=0.002) and IgM-MGUS clonotypes (P=0.019). CTL: control; MAG: myelin associated glycoprotein; WT: wild-type; WM: Waldenström macroglobulinemia; IgM-MGUS: monoclonal gammopathy of undetermined significance; VAF: variant allele frequency; AS-PCR: allele specific-polymerase chain reaction; HTS: high-throughput sequencing.

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