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本文引用的文献

1
Multiple myeloma involving central nervous system: high frequency of chromosome 17p13.1 (p53) deletions.累及中枢神经系统的多发性骨髓瘤:17号染色体p13.1(p53)缺失的高频率
Br J Haematol. 2004 Nov;127(3):280-4. doi: 10.1111/j.1365-2141.2004.05199.x.
2
Utility of Interphase FISH Panels for Routine Clinical Cytogenetic Evaluation of Chronic Lymphocytic Leukemia and Multiple Myeloma.间期荧光原位杂交检测组合在慢性淋巴细胞白血病和多发性骨髓瘤常规临床细胞遗传学评估中的应用
J Assoc Genet Technol. 2004;30(3):77-81.
3
Correlation of TACC3, FGFR3, MMSET and p21 expression with the t(4;14)(p16.3;q32) in multiple myeloma.TACC3、FGFR3、MMSET和p21表达与多发性骨髓瘤中t(4;14)(p16.3;q32)的相关性
Br J Haematol. 2004 Jul;126(1):72-6. doi: 10.1111/j.1365-2141.2004.04996.x.
4
t(11;14) and t(4;14) translocations correlated with mature lymphoplasmacytoid and immature morphology, respectively, in multiple myeloma.在多发性骨髓瘤中,t(11;14)和t(4;14)易位分别与成熟淋巴浆细胞样形态和未成熟形态相关。
Leukemia. 2003 Oct;17(10):2032-5. doi: 10.1038/sj.leu.2403091.
5
Cyclin D1 overexpression is a favorable prognostic variable for newly diagnosed multiple myeloma patients treated with high-dose chemotherapy and single or double autologous transplantation.细胞周期蛋白D1过表达对于接受大剂量化疗及单次或双次自体移植治疗的新诊断多发性骨髓瘤患者而言是一个有利的预后变量。
Blood. 2003 Sep 1;102(5):1588-94. doi: 10.1182/blood-2002-12-3789. Epub 2003 May 1.
6
CD20 is associated with a small mature plasma cell morphology and t(11;14) in multiple myeloma.CD20与多发性骨髓瘤中的小成熟浆细胞形态及t(11;14)相关。
Blood. 2003 Aug 1;102(3):1070-1. doi: 10.1182/blood-2002-11-3333. Epub 2003 Apr 17.
7
In multiple myeloma, t(4;14)(p16;q32) is an adverse prognostic factor irrespective of FGFR3 expression.在多发性骨髓瘤中,t(4;14)(p16;q32)是一种不良预后因素,与成纤维细胞生长因子受体3(FGFR3)的表达无关。
Blood. 2003 Feb 15;101(4):1520-9. doi: 10.1182/blood-2002-06-1675. Epub 2002 Oct 3.
8
Translocation t(11;14)(q13;q32) is the hallmark of IgM, IgE, and nonsecretory multiple myeloma variants.易位t(11;14)(q13;q32)是IgM、IgE和非分泌型多发性骨髓瘤变异型的标志。
Blood. 2003 Feb 15;101(4):1570-1. doi: 10.1182/blood-2002-08-2436. Epub 2002 Oct 3.
9
Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end sequenced probes.使用末端测序探针检测B细胞恶性肿瘤中免疫球蛋白轻链基因座内的非法重排。
Leukemia. 2002 Oct;16(10):2148-55. doi: 10.1038/sj.leu.2402648.
10
Recurrent 14q32 translocations determine the prognosis of multiple myeloma, especially in patients receiving intensive chemotherapy.复发性14号染色体长臂32区易位决定多发性骨髓瘤的预后,尤其是在接受强化化疗的患者中。
Blood. 2002 Sep 1;100(5):1579-83. doi: 10.1182/blood-2002-03-0749.

接受大剂量治疗的骨髓瘤患者中t(11;14)(q13;q32)、t(4;14)(p16.3;q32)和-17p13的临床意义

Clinical implications of t(11;14)(q13;q32), t(4;14)(p16.3;q32), and -17p13 in myeloma patients treated with high-dose therapy.

作者信息

Gertz Morie A, Lacy Martha Q, Dispenzieri Angela, Greipp Philip R, Litzow Mark R, Henderson Kimberly J, Van Wier Scott A, Ahmann Greg J, Fonseca Rafael

机构信息

Division of Hematology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

出版信息

Blood. 2005 Oct 15;106(8):2837-40. doi: 10.1182/blood-2005-04-1411. Epub 2005 Jun 23.

DOI:10.1182/blood-2005-04-1411
PMID:15976175
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1895302/
Abstract

Fluorescence in situ hybridization (FISH) is more sensitive than conventional cytogenetics for recognizing chromosomal changes. Several FISH-detected abnormalities have been associated with inferior prognosis, including deletion of chromosomes 17 and 13 (Delta13) and t(4;14)(p16.3;q32). We analyzed the prognostic value of FISH testing in 238 patients who received high-dose therapy between January 1990 and September 2001. All patients had pretransplantation cytoplasmic immunoglobulin FISH done on cytospin slides from bone marrow aspirates for t(11;14), t(4;14), and -17(p13.1) (TP53). Time to progression and overall survival were significantly shorter for patients with t(4;14) and those with -17(p13.1) but were not affected by t(11;14). Overall survival was significantly shorter for patients with both t(4;14) and Delta13 abnormalities than for those with Delta13 alone (26.8 vs 18.8 months). In a multivariable analysis of the effect of Delta13 and t(4;14), the risk ratio for t(4;14) was greater than for Delta13 (2.6 vs 1.5). For high-dose therapy patients, -17(p13) and t(4;14) have clinical importance for estimating time to progression and overall survival. The presence of t(4;14) identifies a subset of patients whose time to progression is only 8.2 months. These patients receive minimal benefit from autologous stem cell transplantation and are candidates for novel therapeutic approaches.

摘要

荧光原位杂交(FISH)在识别染色体变化方面比传统细胞遗传学更敏感。几种FISH检测到的异常与预后不良相关,包括17号和13号染色体缺失(Delta13)以及t(4;14)(p16.3;q32)。我们分析了1990年1月至2001年9月期间接受高剂量治疗的238例患者中FISH检测的预后价值。所有患者在移植前对骨髓穿刺液的细胞涂片进行了细胞质免疫球蛋白FISH检测,以检测t(11;14)、t(4;14)和-17(p13.1)(TP53)。t(4;14)患者和-17(p13.1)患者的疾病进展时间和总生存期明显较短,但不受t(11;14)影响。同时存在t(4;14)和Delta13异常的患者的总生存期明显短于仅存在Delta13异常的患者(26.8个月对18.8个月)。在对Delta13和t(4;14)影响的多变量分析中,t(4;14)的风险比大于Delta13(2.6对1.5)。对于接受高剂量治疗的患者,-17(p13)和t(4;14)对估计疾病进展时间和总生存期具有临床重要性。t(4;14)的存在确定了一组疾病进展时间仅为8.2个月的患者。这些患者从自体干细胞移植中获益甚微,是新型治疗方法的候选对象。