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

被引：27

作者：

Forconi, Francesco ^{[1
]}

Poretti, Giulia ^{[3
,4
]}

Kwee, Ivo ^{[2
,3
,4
]}

Sozzi, Elisa ^{[1
]}

Rossi, Davide ^{[5
,6
]}

Rancoita, Paola M. V. ^{[2
,3
,4
]}

Capello, Daniela ^{[5
,6
]}

Rinaldi, Andrea ^{[3
,4
]}

Zucca, Emanuele ^{[3
,4
]}

Raspadori, Donatella ^{[1
]}

Spina, Valeria ^{[5
]}

Lauria, Francesco ^{[1
]}

Gaidano, Gianluca ^{[5
,6
]}

Bertoni, Francesco ^{[3
,4
]}

机构：

[1] Univ Siena, Dipartmento Med Clin & Sci Immunol, Sez Ematol & Trapianti, I-53100 Siena, Italy

[2] Ist Dalle Molle Studi Intelligenza Artificale, Manno, Switzerland

[3] Oncol Inst So Switzerland, Expt Oncol Lab, IOSI, Bellinzona, Switzerland

[4] Oncol Inst So Switzerland, IOSI, Lymphoma Unit, Bellinzona, Switzerland

[5] Univ Piemonte Orientale Amedeo Avogadro, Div Ematol, Dipartmento Med Clin & Sperimentale, Novara, Italy

[6] Univ Piemonte Orientale Amedeo Avogadro, Ctr Interdisciplinare & Biotecnol Ricerca Med App, Novara, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2008年 / 141卷 / 05期

关键词：

hairy cell leukaemia; gene arrays; genome-wide DNA profile; whole comparative genomic hybridization; B-cell neoplasms;

D O I：

10.1111/j.1365-2141.2008.07106.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：622 / 630

页数：9

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