Abstract:
:Gene amplification is defined as a copy number (CN) increase in a restricted region of a chromosome arm, and is a mechanism for acquired drug resistance and oncogene activation. In multiple myeloma (MM), high CNs of genes in a 1q12 approximately 23 amplicon have been associated with disease progression and poor prognosis. To investigate the mechanisms for gene amplification in this region in MM, we performed a comprehensive metaphase analysis combining G-banding, fluorescence in situ hybridization, and spectral karyotyping in 67 patients with gain of 1q. In six patients (9%), evidence for at least one breakage-fusion-bridge (BFB) cycle was found. In three patients (4%), extended ladders of 1q12 approximately 23 amplicons were identified. Several key structures that are predicted intermediates in BFB cycles were observed, including: equal-spaced organization of amplicons, inverted repeat organization of amplicons along the same chromosome arm, and deletion of sequences distal to the amplified region. The 1q12 pericentromeric heterochromatin region served as both a recurrent breakpoint as well as a fusion point for sister chromatids, and ultimately bracketed both the proximal and distal boundaries of the amplicon. Our findings provide evidence for a novel BFB mechanism involving 1q12 pericentromeric breakage in the amplification of a large number of genes within a 1q12 approximately 23 amplicon.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Sawyer JR,Tian E,Thomas E,Koller M,Stangeby C,Sammartino G,Goosen L,Swanson C,Binz RL,Barlogie B,Shaughnessy Jdoi
10.1111/j.1365-2141.2009.07869.xsubject
Has Abstractpub_date
2009-11-01 00:00:00pages
484-94issue
4eissn
0007-1048issn
1365-2141pii
BJH7869journal_volume
147pub_type
杂志文章abstract::The bcl-2 gene is rearranged in most cases of follicular lymphoma and the breakpoint clusters into two specific regions: mbr and mcr. Rearrangements to immunoglobulin heavy chain genes (IgH) result in a deregulation of the gene and increased transcription of mRNA for the bcl-2 protein. In chronic lymphocytic leukaemia...
journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.1996.00388.x
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abstract::Immunochemotherapy with cyclophosphamide, adriamycin, vincristine, prednisone and rituximab (R-CHOP) is the standard treatment in non-immunosuppressed patients with diffuse large B-cell lymphoma (DLBCL), but its adequacy has not been definitively established in patients with human immunodeficiency virus (HIV)-related ...
journal_title:British journal of haematology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2141.2007.06943.x
更新日期:2008-02-01 00:00:00
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journal_title:British journal of haematology
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1979.tb03697.x
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journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::Previous studies report conflicting results concerning the potential significance of thrombophilic genotypes in postarthroplasty venous thromboembolism (VTE). This study assessed thrombophilic genotypes, haemostatic and clinical variables as independent risk factors for VTE postarthroplasty. A total number of 569 pati...
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journal_title:British journal of haematology
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abstract::Future progress in the treatment of multiple myeloma (MM) requires both the characterisation of key drivers of the disease and novel, innovative approaches to tackle these vulnerabilities. The present study focussed on the pre-clinical evaluation of a novel drug class, BMI-1 modulators, in MM. We demonstrate potent ac...
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pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1046/j.1365-2141.2002.03823.x
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pub_type: 杂志文章
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journal_title:British journal of haematology
pub_type: 杂志文章
doi:10.1111/j.1365-2141.1987.tb06140.x
更新日期:1987-01-01 00:00:00
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journal_title:British journal of haematology
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journal_title:British journal of haematology
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abstract::An immunotoxin containing an anti-CD30 monoclonal antibody (Ber-H2) and saporin, a ribosome-inactivating protein type 1, is described. It specifically inhibits protein synthesis by Hodgkin derived target cell lines with a very high efficiency (IC50 ranging from 5 x 10(-12) M to 5 x 10(-14) M, as saporin), while irrele...
journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::A 33-year-old man presented with hepatosplenomegaly and lymphadenopathy. Bone marrow findings were consistent with Philadelphia-positive accelerated-phase chronic granulocytic leukaemia (CGL). Lymph node histology and immunhistochemistry were diagnostic of T lymphoblastic lymphoma. Molecular studies on lymph node DNA ...
journal_title:British journal of haematology
pub_type: 杂志文章
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abstract::High-dose chemotherapy with melphalan followed by autologous haematopoietic cell transplantation (AHCT) is a standard of care in young patients (<65 years) with multiple myeloma. Most myeloma patients, however, are older than 65 years at the time of diagnosis, and the findings of numerous single-centre and registry st...
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pub_type: 杂志文章,评审
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
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journal_title:British journal of haematology
pub_type: 临床试验,杂志文章
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abstract::Demand for anticoagulation management is increasing due to an expansion of clinical indications for therapy. One possible model of care to meet demand is patient self-management (PSM), beneficial to patients who need control over their condition. This study aimed to determine the cost and cost-effectiveness of PSM of ...
journal_title:British journal of haematology
pub_type: 杂志文章,随机对照试验
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更新日期:2006-09-01 00:00:00
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journal_title:British journal of haematology
pub_type: 杂志文章
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