Rapid Detection and Quantitation of BRAF Mutations in Hairy Cell Leukemia Using a Sensitive Pyrosequencing Assay

Overview

Journal Am J Clin Pathol

Publisher Oxford University Press

Specialty Pathology

Date 2012 Jun 19

PMID 22706871

Citations 16

Authors

Shalini Verma

Wesley O Greaves

Farhad Ravandi

Neelima Reddy

Carlos E Bueso-Ramos

Susan OBrien

Deborah A Thomas

Hagop Kantarjian

L Jeffrey Medeiros

Rajyalakshmi Luthra

Keyur P Patel

Affiliations

Soon will be listed here.

Abstract

BRAF protooncogene is an important mediator of cell proliferation and survival signals. BRAF p.V600E mutation was recently described as a molecular marker of hairy cell leukemia (HCL). We developed and validated a pyrosequencing-based approach that covers BRAF mutational hotspots in exons 11 (codon 468) and 15 (codons 595 to 600). The assay detects BRAF mutations at an analytical sensitivity of 5%. We screened 16 unenriched archived bone marrow aspirate samples from patients with a diagnosis of HCL (n = 12) and hairy cell leukemia-variant (HCL-v) (n = 4) using pyrosequencing. BRAF p.V600E mutation was present in all HCL cases and absent in all HCL-v. Our data support the recent finding that BRAF p.V600E mutation is universally present in HCL. Moreover, our pyrosequencing-based assay provides a convenient, rapid, sensitive, and quantitative tool for the detection of BRAF p.V600E mutations in HCL for clinical diagnostic testing.

Citing Articles

Real-time detection of BRAF V600E mutation from archival hairy cell leukemia FFPE tissue by nanopore sequencing.

Vacca D, Cancila V, Gulino A, Lo Bosco G, Belmonte B, Di Napoli A Mol Biol Rep. 2017; 45(1):1-7.

PMID: 29238890 DOI: 10.1007/s11033-017-4133-0.

Langerhans cell histiocytosis associated with lymphoma: an incidental finding that is not associated with BRAF or MAP2K1 mutations.

Pina-Oviedo S, Medeiros L, Li S, Khoury J, Patel K, Alayed K Mod Pathol. 2017; 30(5):734-744.

PMID: 28084334 PMC: 5839484. DOI: 10.1038/modpathol.2016.235.

Potential role of AKT/mTOR signalling proteins in hairy cell leukaemia: association with BRAF/ERK activation and clinical outcome.

Lakiotaki E, Levidou G, Angelopoulou M, Adamopoulos C, Pangalis G, Rassidakis G Sci Rep. 2016; 6:21252.

PMID: 26893254 PMC: 4759548. DOI: 10.1038/srep21252.

BRAF Mutation in Hairy Cell Leukemia.

Ahmadzadeh A, Shahrabi S, Jaseb K, Norozi F, Shahjahani M, Vosoughi T Oncol Rev. 2015; 8(2):253.

PMID: 25992240 PMC: 4419648. DOI: 10.4081/oncol.2014.253.

BRAF V600E and MAP2K1 mutations in hairy cell leukemia and splenic marginal zone lymphoma cases.

Shin S, Lee S, Kim H, Ki C, Jung C, Kim J Ann Lab Med. 2015; 35(2):257-9.

PMID: 25729732 PMC: 4330180. DOI: 10.3343/alm.2015.35.2.257.

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