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. 2010 Oct;95(10):1797-8.
doi: 10.3324/haematol.2010.024430. Epub 2010 Jun 9.

IDH1 R132H mutation is a rare event in myeloproliferative neoplasms as determined by a mutation specific antibody

Mindaugas Andrulis, David Capper, Jochen Meyer, Roland Penzel, Christian Hartmann, Hanswalter Zentgraf, Andreas von Deimling

IDH1 R132H mutation is a rare event in myeloproliferative neoplasms as determined by a mutation specific antibody

Mindaugas Andrulis et al. Haematologica. 2010 Oct.
No abstract available

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Figures

Figure 1.
Figure 1.
Detection of IDH1R132H mutation in myeloproliferative neoplasms. BM biopsies of MPN cases stained with IDH1R132H mutation specific antibody (upper row; magnification x400; colors corrected with Adobe Photoshop), corresponding IDH1 DNA sequences (middle row; the position of IDH1 R132 mutated base and corresponding amino acid exchange is indicated by the DNA and amino acid sequences above) and amplification products of normal and V617F-mutant alleles of JAK2 (lower row) assessed using the amplification refractory mutation system (ARMS) as previously described; lane 1 – positive control for JAK2V617F with mut/wt allele ratio of >90%; lane 2 – the JAK2V617F ARMS product of our corresponding cases; lane 3 – b-actin control of our corresponding cases; the products of mutated allele and wt allele are indicated by mut and wt. Almost all hematopoietic cells demonstrate strong binding of the antibody in consecutive bone marrow biopsies from case A taken at diagnosis (A1) and two years later (A2) and the R132H mutation is detectable by direct sequencing in both lesions. In contrast, the JAK2V617F allele is not detectable in the bone marrow biopsy taken at diagnosis (A1) whereas JAK2V617F allele is dominant in the follow-up biopsy (A2). In cases B and C, the antibody binding is evident in few positive cells (arrowheads) but no R132H mutation is found by direct sequencing.
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