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Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation

Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation
Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation
Hairy cell leukemia (HCL) is a distinct clinicopathologic entity that responds well to purine analogs but is sometimes difficult to differentiate from HCL-like disorders (e.g., splenic marginal zone lymphoma and HCL variant). We recently identified the BRAF-V600E mutation as the disease-defining genetic event in HCL. In this study, we describe a new, simple, and inexpensive test for genetics-based diagnosis of HCL in whole-blood samples that detects BRAF-V600E through a sensitive allele-specific PCR qualitative assay followed by agarose-gel electrophoresis. This approach detected BRAF-V600E in all 123 leukemic HCL samples investigated containing as few as 0.1% leukemic cells. BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. Conversely, 115 non-HCL chronic B-cell neoplasms, including 79 HCL-like disorders, were invariably negative for BRAF-V600E. This molecular assay is a powerful tool for improving the diagnostic accuracy in HCL.
0006-4971
192-195
Tiacci, Enrico
ac6f3e84-4c46-4b83-9910-c7a6e34e5ae1
Schiavoni, Gianluca
6d3821a9-bd22-416c-8aeb-5fab1ca85840
Forconi, Francesco
ce9ed873-58cf-4876-bf3a-9ba1d163edc8
Santi, Alessia
52956495-e9f2-4759-8186-8bb51346854a
Trentin, Livio
457595df-2d40-4392-931c-3919eb5620ec
Ambrosetti, Achille
d843ef25-58db-4165-b85f-deb97239bcaa
Cecchini, Debora
b12c2885-94c8-408e-be67-0dc1dee75f12
Sozzi, Elisa
e811ff23-6fe9-47ec-b052-fe8d34d1e36b
Francia di Celle, Paola
3dd039c1-69a3-4337-98a0-525f9120b2ef
Di Bello, Cristiana
2fbddb29-b504-48db-8bd7-e6e7c4edb03c
Pulsoni, Alessandro
7ac8f4ba-98fe-4bbc-a6a5-babf9493bd78
Foà, Robin
1e05d518-cb40-4f40-9e0e-e734caacb2e9
Inghirami, Giorgio
d6810adb-392a-43cd-9ed3-434bb36aa4df
Falini, Brunangelo
a074b4b4-0ee2-4905-8000-5dfbd6d8af37
Tiacci, Enrico
ac6f3e84-4c46-4b83-9910-c7a6e34e5ae1
Schiavoni, Gianluca
6d3821a9-bd22-416c-8aeb-5fab1ca85840
Forconi, Francesco
ce9ed873-58cf-4876-bf3a-9ba1d163edc8
Santi, Alessia
52956495-e9f2-4759-8186-8bb51346854a
Trentin, Livio
457595df-2d40-4392-931c-3919eb5620ec
Ambrosetti, Achille
d843ef25-58db-4165-b85f-deb97239bcaa
Cecchini, Debora
b12c2885-94c8-408e-be67-0dc1dee75f12
Sozzi, Elisa
e811ff23-6fe9-47ec-b052-fe8d34d1e36b
Francia di Celle, Paola
3dd039c1-69a3-4337-98a0-525f9120b2ef
Di Bello, Cristiana
2fbddb29-b504-48db-8bd7-e6e7c4edb03c
Pulsoni, Alessandro
7ac8f4ba-98fe-4bbc-a6a5-babf9493bd78
Foà, Robin
1e05d518-cb40-4f40-9e0e-e734caacb2e9
Inghirami, Giorgio
d6810adb-392a-43cd-9ed3-434bb36aa4df
Falini, Brunangelo
a074b4b4-0ee2-4905-8000-5dfbd6d8af37

Tiacci, Enrico, Schiavoni, Gianluca, Forconi, Francesco, Santi, Alessia, Trentin, Livio, Ambrosetti, Achille, Cecchini, Debora, Sozzi, Elisa, Francia di Celle, Paola, Di Bello, Cristiana, Pulsoni, Alessandro, Foà, Robin, Inghirami, Giorgio and Falini, Brunangelo (2012) Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation. Blood, 119 (1), 192-195. (doi:10.1182/blood-2011-08-371179). (PMID:22028477)

Record type: Article

Abstract

Hairy cell leukemia (HCL) is a distinct clinicopathologic entity that responds well to purine analogs but is sometimes difficult to differentiate from HCL-like disorders (e.g., splenic marginal zone lymphoma and HCL variant). We recently identified the BRAF-V600E mutation as the disease-defining genetic event in HCL. In this study, we describe a new, simple, and inexpensive test for genetics-based diagnosis of HCL in whole-blood samples that detects BRAF-V600E through a sensitive allele-specific PCR qualitative assay followed by agarose-gel electrophoresis. This approach detected BRAF-V600E in all 123 leukemic HCL samples investigated containing as few as 0.1% leukemic cells. BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. Conversely, 115 non-HCL chronic B-cell neoplasms, including 79 HCL-like disorders, were invariably negative for BRAF-V600E. This molecular assay is a powerful tool for improving the diagnostic accuracy in HCL.

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e-pub ahead of print date: 25 October 2011
Published date: 5 January 2012
Organisations: Cancer Sciences

Identifiers

Local EPrints ID: 358116
URI: https://eprints.soton.ac.uk/id/eprint/358116
ISSN: 0006-4971
PURE UUID: 765345c9-db62-48a3-9233-e396d6dc5c75

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Date deposited: 04 Oct 2013 11:05
Last modified: 18 Jul 2017 03:31

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Contributors

Author: Enrico Tiacci
Author: Gianluca Schiavoni
Author: Alessia Santi
Author: Livio Trentin
Author: Achille Ambrosetti
Author: Debora Cecchini
Author: Elisa Sozzi
Author: Paola Francia di Celle
Author: Cristiana Di Bello
Author: Alessandro Pulsoni
Author: Robin Foà
Author: Giorgio Inghirami
Author: Brunangelo Falini

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