Abstract

DNA samples from patients with hairy cell leukemia (HCL) and splenic marginal zone B-cell lymphoma (MZBCL) for BRAF and MAP2K1 activating mutations were analyzed. V600E mutation of BRAF was detected in 39 (98 %) of 40 patients with hairy cell leukemia, and no patient with MZBCL. In none of the patients in this study any other activating mutations than V600E in exons 11 and 15 of BRAF gene were revealed. MAP2K1 Q56P mutation characterized by IGHV4-34 expression was detected in 1 (2 %) of 40 patients with HCL. In none of the patients with MZBCL activating mutations in the 2, 3 or 11 exons of MAR2K1 gene have been identified, including those with IGHV4-34 expression.

Highlights

  • BRAF and MAP2K1 mutations in hairy cell leukemia and splenic marginal zone B-cell lymphoma I.

  • National Research Center for Hematology, Ministry of Health of Russia; 4 Novyy Zykovskiy Proezd, Moscow, 125167, Russia DNA samples from patients with hairy cell leukemia (HCL) and splenic marginal zone B-cell lymphoma (MZBCL) for BRAF and MAP2K1 activating mutations were analyzed.

  • Ранее с помощью полноэкзомного секвенирования было продемонстрировано, что му­ тация в гене BRAF, приводящая к аминокислотной замене V600E, выявляется у 100 % больных ВКЛ [1], а также была показана конститутивная активация RAF-MEK-ERK-каскада [2, 3].

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Summary

Introduction

BRAF and MAP2K1 mutations in hairy cell leukemia and splenic marginal zone B-cell lymphoma I. National Research Center for Hematology, Ministry of Health of Russia; 4 Novyy Zykovskiy Proezd, Moscow, 125167, Russia DNA samples from patients with hairy cell leukemia (HCL) and splenic marginal zone B-cell lymphoma (MZBCL) for BRAF and MAP2K1 activating mutations were analyzed. Ранее с помощью полноэкзомного секвенирования было продемонстрировано, что му­ тация в гене BRAF, приводящая к аминокислотной замене V600E, выявляется у 100 % больных ВКЛ [1], а также была показана конститутивная активация RAF-MEK-ERK-каскада [2, 3].

Results
Conclusion

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