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. 2012 Apr 5;119(14):3330-2.
doi: 10.1182/blood-2011-09-379339. Epub 2011 Dec 30.

Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation

Liqiang Xi  1 , Evgeny Arons, Winnifred Navarro, Katherine R Calvo, Maryalice Stetler-Stevenson, Mark Raffeld, Robert J Kreitman
Affiliations

Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation

Liqiang Xi et al. Blood. .

Abstract

Recently, the BRAF V600E mutation was reported in all cases of hairy cell leukemia (HCL) but not in other peripheral B-cell neoplasms. We wished to confirm these results and assess BRAF status in well-characterized cases of HCL associated with poor prognosis, including the immunophenotypically defined HCL variant (HCLv) and HCL expressing the IGHV4-34 immunoglobulin rearrangement. Fifty-three classic HCL (HCLc) and 16 HCLv cases were analyzed for BRAF, including 5 HCLc and 8 HCLv expressing IGHV4-34. BRAF was mutated in 42 (79%) HCLc, but wild-type in 11 (21%) HCLc and 16 (100%) HCLv. All 13 IGHV4-34(+) HCLs were wild-type. IGHV gene usage in the 11 HCLc BRAF wild-type cases included 5 IGHV4-34, 5 other, and 1 unknown. Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600.

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Figures

Figure 1
Figure 1
BRAF primer design and representative pyrograms. (A) The modified pyrosequencing assay design from Packham et al. The assay detects all mutations in codon 600, including the common V600E (c.1799T > A) mutation as well as the less common variant mutations involving codons 599 through 601. (B-C) Representative pyrograms from an HCLc-expressing IGHV4-34 (case BH18; 92.6% HCL cells) revealing a wild-type result at codon 600 (B), and from an HCLc (case BH21; 77.4% HCL cells) expressing IGHV5-51 showing the c.1799T > A (V600E) mutation (C). The nucleotides on the x-axis (beginning with G) represent their dispensation order during the pyrosequencing reactions, whereas the y-axis displays arbitrary units related to peak height. Peak heights are proportional to the number of nucleotides incorporated into the growing DNA strand. The shaded boxes represent the percentage of nucleotides calculated at a particular interrogated location (AQ score). The arrow in panel C indicates the c.1799T > A mutation. The shaded box represents an AQ score of 41% A and 59% T at that position.
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References

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