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High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia

High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia
High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia
Hairy cell leukaemia (HCL) is a rare B-cell neoplasm for which the molecular mechanisms are largely unknown. High-density genome-wide DNA profiling was performed with Affymetrix 250K arrays to analyse copy number (CN) changes and loss of heterozygosity (LOH) in 16 cases of HCL. Four of 16 cases (25%) demonstrated gross non-recurrent CN deletions. Within the affected regions, we identified genes involved in bone marrow fibrosis (FGF12) and response to treatment (TP53) in individual cases. Large regions (>5 Mb) of LOH without any concomitant DNA CN changes were identified in 5/16 (31%) HCL and were indicative of uniparental disomy UD. The germline origin of UD was demonstrated in one case for which a matched normal sample was available. Overall analysis of LOH showed that identical loci were recurrently targeted in chromosomes 1, 2 and 6. As a whole, however, HCL showed a remarkably stable genome. This finding adds to several other features that are unique to HCL among mature B-cell tumours.
0007-1048
622-630
Forconi, Francesco
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Poretti, Giulia
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Kwee, Ivo
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Sozzi, Elisa
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Rossi, Davide
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Rancoita, Paola M. V.
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Capello, Daniela
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Rinaldi, Andrea
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Zucca, Emanuele
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Raspadori, Donatella
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Spina, Valeria
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Lauria, Francesco
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Gaidano, Gianluca
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Bertoni, Francesco
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Forconi, Francesco
ce9ed873-58cf-4876-bf3a-9ba1d163edc8
Poretti, Giulia
df334364-1da8-45fb-91ae-85b917c3b00d
Kwee, Ivo
0926a658-8296-4ba4-9a70-abcf8a1aad96
Sozzi, Elisa
e811ff23-6fe9-47ec-b052-fe8d34d1e36b
Rossi, Davide
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Rancoita, Paola M. V.
d082837f-1225-4cb2-ab13-c39224e4d07c
Capello, Daniela
f4d381f4-aaa6-47ae-bebf-53b0aed65055
Rinaldi, Andrea
ae4d2559-25e9-47b8-8c77-308f6cb2a5c4
Zucca, Emanuele
40bd5950-d74e-4169-a2ea-0bfc1058058e
Raspadori, Donatella
185f6866-6d10-4f86-9add-72938cea80b3
Spina, Valeria
bb72602d-3d56-424f-b169-47377aef1d10
Lauria, Francesco
f01f163b-abcb-4aad-b952-f4356692f519
Gaidano, Gianluca
1a6a7107-107b-4891-82e0-5fedadd2f65a
Bertoni, Francesco
13297a2f-854a-4841-a410-d6bfca8afee8

Forconi, Francesco, Poretti, Giulia, Kwee, Ivo, Sozzi, Elisa, Rossi, Davide, Rancoita, Paola M. V., Capello, Daniela, Rinaldi, Andrea, Zucca, Emanuele, Raspadori, Donatella, Spina, Valeria, Lauria, Francesco, Gaidano, Gianluca and Bertoni, Francesco (2008) High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia. British Journal of Haematology, 141 (5), 622-630. (doi:10.1111/j.1365-2141.2008.07106.x).

Record type: Article

Abstract

Hairy cell leukaemia (HCL) is a rare B-cell neoplasm for which the molecular mechanisms are largely unknown. High-density genome-wide DNA profiling was performed with Affymetrix 250K arrays to analyse copy number (CN) changes and loss of heterozygosity (LOH) in 16 cases of HCL. Four of 16 cases (25%) demonstrated gross non-recurrent CN deletions. Within the affected regions, we identified genes involved in bone marrow fibrosis (FGF12) and response to treatment (TP53) in individual cases. Large regions (>5 Mb) of LOH without any concomitant DNA CN changes were identified in 5/16 (31%) HCL and were indicative of uniparental disomy UD. The germline origin of UD was demonstrated in one case for which a matched normal sample was available. Overall analysis of LOH showed that identical loci were recurrently targeted in chromosomes 1, 2 and 6. As a whole, however, HCL showed a remarkably stable genome. This finding adds to several other features that are unique to HCL among mature B-cell tumours.

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Published date: 7 April 2008
Organisations: Cancer Sciences

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Local EPrints ID: 341677
URI: https://eprints.soton.ac.uk/id/eprint/341677
ISSN: 0007-1048
PURE UUID: 637a4e15-6b05-4624-a588-c928a3d9fb13

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Date deposited: 02 Aug 2012 14:11
Last modified: 18 Jul 2017 05:33

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Contributors

Author: Giulia Poretti
Author: Ivo Kwee
Author: Elisa Sozzi
Author: Davide Rossi
Author: Paola M. V. Rancoita
Author: Daniela Capello
Author: Andrea Rinaldi
Author: Emanuele Zucca
Author: Donatella Raspadori
Author: Valeria Spina
Author: Francesco Lauria
Author: Gianluca Gaidano
Author: Francesco Bertoni

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