生物学检测技术在多发性骨髓瘤临床应用中的意义_West China Medical Journal

Authors：

 杨竹 ¹ , 汪林 ² ,  牛挺 ¹

1. ;
2. ;

Corresponding author：

牛挺, Email: tingniu@sina.com

Keywords：

多发性骨髓瘤; 生物学检测技术; 诊断; 治疗

DOI：

10.7507/1002-0179.20140358

Video：

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Abstract Full text Figures/Tables Video References Cited by

多发性骨髓瘤（MM），又称浆细胞骨髓瘤，是起源于浆细胞克隆扩张的高异质性的肿瘤，是血液系统第二大常见的恶性疾病，然而临床上对其认识至今仍止于表面。目前，现代生物学检测技术在肿瘤中的应用已能帮助我们从新的角度与层面去深入认识和了解MM，这将有希望改变目前临床上千篇一律的诊治模式，指导更为个体化的评估及治疗。

Citation： 杨竹, 汪林, 牛挺. 生物学检测技术在多发性骨髓瘤临床应用中的意义. West China Medical Journal, 2014, 29(6): 1163-1166. doi: 10.7507/1002-0179.20140358 Copy

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7.	Rio-Machin A, Ferreira BI, Henry T, et al. Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype[J]. Leukemia, 2013, 27(4): 925-931.
8.	Demchenko YN, Glebov OK, Zingone A, et al. Classical and/or alternative NF-kappaB pathway activation in multiple myeloma[J]. Blood, 2010, 115(17): 3541-3552.
9.	Annunziata CM, Davis RE, Demchenko Y, et al. Frequent engagement of the classical and alternative NF-kappaB pathways by diverse genetic abnormalities in multiple myeloma[J]. Cancer Cell, 2007, 12(2): 115-130.
10.	Walker BA, Leone PE, Chiecchio L, et al. A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value[J]. Blood, 2010, 116(15): e56-e65.
11.	Walker BA, Wardell CP, Chiecchio L, et al. Aberrant global methylation patterns affect the molecular pathogenesis and prognosis of multiple myeloma[J]. Blood, 2011, 117(2): 553-562.
12.	Hu Y, Chen L, Sun CY, et al. Clinical significance of chromosomal abnormalities detected by interphase fluorescence in situ hybridization in newly diagnosed multiple myeloma patients[J]. Chin Med J, 2011, 124(19): 2981-2985.
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14.	Lim AS, Lim TH, See KH, et al. Cytogenetic and molecular aberrations of multiple myeloma patients: a single-center study in Singapore[J]. Chin Med J, 2013, 126(10): 1872-1877.
15.	Neben K, Jauch A, Hielscher T, et al. Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del (17p), t (4; 14), gain 1q, hyperdiploidy, and tumor load[J]. J Clin Oncol, 2013, 31(34): 4325-4332.
16.	Liebisch P, Scheck D, Erné SA, et al. Duplication of chromosome arms 9q and 11q: evidence for a novel, 14q32 translocation-independent pathogenetic pathway in multiple myeloma[J]. Genes Chromosomes Cancer, 2005, 42(1): 78-81.
17.	Munshi NC, Anderson KC, Bergsagel PL, et al. Consensus recommendations for risk stratification in multiple myeloma: report of the International Myeloma Workshop Consensus Panel 2[J]. Blood. 2011, 117(18): 4696-4700.
18.	Shaughnessy JD, Zhan FH, Burington BE, et al. A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1[J]. Blood, 2007, 109(6): 2276-2284.
19.	Decaux O, Lodé L, Magrangeas F, et al. Prediction of survival in multiple myeloma based on gene expression profiles reveals cell cycle and chromosomal instability signatures in high-risk patients and hyperdiploid signatures in low-risk patients: a study of the Intergroupe Francophone du Myélome[J]. J Clin Oncol, 2008, 26(29): 4798-4805.
20.	Smetana J, Dementyeva E, Kryukov F, et al. Incidence of cytogenetic aberrations in two B lineage subpopulations in multiple myeloma patients analyzed by combination of whole-genome profiling and FISH[J]. Neoplasma, 2014, 61(1): 48-55.
21.	Smetana J, Fröhlich J, Vranová V, et al. Oligonucleotide-based array CGH as a diagnostic tool in multiple myeloma patients[J]. Klio Onkol, 2011, 24(Suppl): 43-48.
22.	Zhan FH, Huang YS, Colla S, et al. The molecular classification of multiple myeloma[J]. Blood, 2006, 108(6): 2020-2028.
23.	Avet-Loiseau H, Li C, Magrangeas F, et al. Prognostic significance of copy-number alterations in multiple myeloma[J]. J Clin Oncol, 2009, 27(27): 4585-4590.
24.	Barlogie B, Pineda-Roman M, Van Rhee F, et al. Thalidomide arm of Total Therapy 2 improves complete remission duration and survival in myeloma patients with metaphase cytogenetic abnormalities[J]. Blood, 2008, 112(8): 3115-3121.
25.	Avet-Loiseau H, Leleu X, Roussel M, et al. Bortezomib plus dexamethasone induction improves outcome of patients with t (4; 14) myeloma but not outcome of patients with del(17p)[J]. J Clin Oncol, 2010, 28(30): 4630-4634.
26.	Ito T, Ando H, Suzuki T, et al. Identification of a primary target of Thalidomide teratogenicity[J]. Science, 2010, 327(5971): 1345-1350.
27.	Broyl A, Kuiper R, Van Duin M, et al. High cereblon expression is associated with better survival in patients with newly diagnosed multiple myeloma treated with Thalidomide maintenance[J]. Blood, 2013, 121(4): 624-627.
28.	Zhu YX, Braggio E, Shi CX, et al. Cereblon expression is required for the antimyeloma activity of lenalidomide and pomalidomide[J]. Blood, 2011, 118(18): 4771-4779.
29.	Oerlemans R, Franke NE, Assaraf YG, et al. Molecular basis of bortezomib resistance: proteasome subunit beta5(PSMB5) gene mutation and overexpression of PSMB5 protein[J]. Blood, 2008, 112(6): 2489-2499.
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32.	Kuhn DJ, Berkova Z, Jones RJ, et al. Targeting the insulin-like growth factor-1 receptor to overcome bortezomib resistance in preclinical models of multiple myeloma[J]. Blood, 2012, 120(16): 3260-3270.
33.	Brown CO, Schibler J, Fitzgerald MP, et al. Scavenger receptor class A member 3(SCARA3) in disease progression and therapy resistance in multiple myeloma[J]. Leuk Res, 2013, 37(8): 963-969.
34.	Que W, Li S, Chen J. NS-398 enhances the efficacy of bortezomib against RPMI8226 human multiple myeloma cells[J]. Mol Med Rep, 2013, 7(5): 1641-1645.
35.	Fuchs O. Targeting of NF-kappaB signaling pathway, other signaling pathways and epigenetics in therapy of multiple myeloma[J]. Cardiovasc Hematol Disord Drug Targets, 2013, 13(1): 16-34.

1. Kenneth K, Marshall AL, Ernest B, et al. Williams Hematology[M]. 8th ed. New York: McGraw-Hill Education, 2010: 1527-1532.
2. Chng WJ, Kumar S, Vanwier S, et al. Molecular dissection of hyperdiploid multiple myeloma by gene expression profiling[J]. Cancer Res, 2007, 67(7): 2982-2989.
3. Fonseca R, Barlogie B, Bataille R, et al. Genetics and cytogenetics of multiple myeloma: a workshop report[J]. Cancer Res, 2004, 64(4): 1546-1558.
4. Agnelli L, Fabris S, Bicciato S, et al. Upregulation of translational machinery and distinct genetic subgroups characterise hyperdiploidy in multiple myeloma[J]. Br J Haematol, 2007, 136(4): 565-573.
5. Bergsagel PL, Kuehl WM, Zhan FH, et al. Cyclin D dysregulation: an early and unifying pathogenic event in multiple myeloma[J]. Blood, 2005, 106(1): 296-303.
6. Gonzalez D, Van Der Burg M, Garcia-Sanz RA, et al. Immunoglobulin gene rearrangements and the pathogenesis of multiple myeloma[J]. Blood, 2007, 110(9): 3112-3121.
7. Rio-Machin A, Ferreira BI, Henry T, et al. Downregulation of specific miRNAs in hyperdiploid multiple myeloma mimics the oncogenic effect of IgH translocations occurring in the non-hyperdiploid subtype[J]. Leukemia, 2013, 27(4): 925-931.
8. Demchenko YN, Glebov OK, Zingone A, et al. Classical and/or alternative NF-kappaB pathway activation in multiple myeloma[J]. Blood, 2010, 115(17): 3541-3552.
9. Annunziata CM, Davis RE, Demchenko Y, et al. Frequent engagement of the classical and alternative NF-kappaB pathways by diverse genetic abnormalities in multiple myeloma[J]. Cancer Cell, 2007, 12(2): 115-130.
10. Walker BA, Leone PE, Chiecchio L, et al. A compendium of myeloma-associated chromosomal copy number abnormalities and their prognostic value[J]. Blood, 2010, 116(15): e56-e65.
11. Walker BA, Wardell CP, Chiecchio L, et al. Aberrant global methylation patterns affect the molecular pathogenesis and prognosis of multiple myeloma[J]. Blood, 2011, 117(2): 553-562.
12. Hu Y, Chen L, Sun CY, et al. Clinical significance of chromosomal abnormalities detected by interphase fluorescence in situ hybridization in newly diagnosed multiple myeloma patients[J]. Chin Med J, 2011, 124(19): 2981-2985.
13. Gao X, Li C, Zhang R, et al. Fluorescence in situ hybridization analysis of chromosome aberrations in 60 Chinese patients with multiple myeloma[J]. Med Oncol, 2012, 29(3): 2200-2206.
14. Lim AS, Lim TH, See KH, et al. Cytogenetic and molecular aberrations of multiple myeloma patients: a single-center study in Singapore[J]. Chin Med J, 2013, 126(10): 1872-1877.
15. Neben K, Jauch A, Hielscher T, et al. Progression in smoldering myeloma is independently determined by the chromosomal abnormalities del (17p), t (4; 14), gain 1q, hyperdiploidy, and tumor load[J]. J Clin Oncol, 2013, 31(34): 4325-4332.
16. Liebisch P, Scheck D, Erné SA, et al. Duplication of chromosome arms 9q and 11q: evidence for a novel, 14q32 translocation-independent pathogenetic pathway in multiple myeloma[J]. Genes Chromosomes Cancer, 2005, 42(1): 78-81.
17. Munshi NC, Anderson KC, Bergsagel PL, et al. Consensus recommendations for risk stratification in multiple myeloma: report of the International Myeloma Workshop Consensus Panel 2[J]. Blood. 2011, 117(18): 4696-4700.
18. Shaughnessy JD, Zhan FH, Burington BE, et al. A validated gene expression model of high-risk multiple myeloma is defined by deregulated expression of genes mapping to chromosome 1[J]. Blood, 2007, 109(6): 2276-2284.
19. Decaux O, Lodé L, Magrangeas F, et al. Prediction of survival in multiple myeloma based on gene expression profiles reveals cell cycle and chromosomal instability signatures in high-risk patients and hyperdiploid signatures in low-risk patients: a study of the Intergroupe Francophone du Myélome[J]. J Clin Oncol, 2008, 26(29): 4798-4805.
20. Smetana J, Dementyeva E, Kryukov F, et al. Incidence of cytogenetic aberrations in two B lineage subpopulations in multiple myeloma patients analyzed by combination of whole-genome profiling and FISH[J]. Neoplasma, 2014, 61(1): 48-55.
21. Smetana J, Fröhlich J, Vranová V, et al. Oligonucleotide-based array CGH as a diagnostic tool in multiple myeloma patients[J]. Klio Onkol, 2011, 24(Suppl): 43-48.
22. Zhan FH, Huang YS, Colla S, et al. The molecular classification of multiple myeloma[J]. Blood, 2006, 108(6): 2020-2028.
23. Avet-Loiseau H, Li C, Magrangeas F, et al. Prognostic significance of copy-number alterations in multiple myeloma[J]. J Clin Oncol, 2009, 27(27): 4585-4590.
24. Barlogie B, Pineda-Roman M, Van Rhee F, et al. Thalidomide arm of Total Therapy 2 improves complete remission duration and survival in myeloma patients with metaphase cytogenetic abnormalities[J]. Blood, 2008, 112(8): 3115-3121.
25. Avet-Loiseau H, Leleu X, Roussel M, et al. Bortezomib plus dexamethasone induction improves outcome of patients with t (4; 14) myeloma but not outcome of patients with del(17p)[J]. J Clin Oncol, 2010, 28(30): 4630-4634.
26. Ito T, Ando H, Suzuki T, et al. Identification of a primary target of Thalidomide teratogenicity[J]. Science, 2010, 327(5971): 1345-1350.
27. Broyl A, Kuiper R, Van Duin M, et al. High cereblon expression is associated with better survival in patients with newly diagnosed multiple myeloma treated with Thalidomide maintenance[J]. Blood, 2013, 121(4): 624-627.
28. Zhu YX, Braggio E, Shi CX, et al. Cereblon expression is required for the antimyeloma activity of lenalidomide and pomalidomide[J]. Blood, 2011, 118(18): 4771-4779.
29. Oerlemans R, Franke NE, Assaraf YG, et al. Molecular basis of bortezomib resistance: proteasome subunit beta5(PSMB5) gene mutation and overexpression of PSMB5 protein[J]. Blood, 2008, 112(6): 2489-2499.
30. Kuhn DJ, Hunsucker SA, Chen Q, et al. Targeted inhibition of the immunoproteasome is a potent strategy against models of multiple myeloma that overcomes resistance to conventional drugs and nonspecific proteasome inhibitors[J]. Blood, 2009, 113(19): 4667-4676.
31. Jagannath S, Richardson PG, Barlogie B, et al. Bortezomib in combination with dexamethasone for the treatment of patients with relapsed and/or refractory multiple myeloma with less than optimal response to bortezomib alone[J]. Haematologica, 2006, 91(7): 929-934.
32. Kuhn DJ, Berkova Z, Jones RJ, et al. Targeting the insulin-like growth factor-1 receptor to overcome bortezomib resistance in preclinical models of multiple myeloma[J]. Blood, 2012, 120(16): 3260-3270.
33. Brown CO, Schibler J, Fitzgerald MP, et al. Scavenger receptor class A member 3(SCARA3) in disease progression and therapy resistance in multiple myeloma[J]. Leuk Res, 2013, 37(8): 963-969.
34. Que W, Li S, Chen J. NS-398 enhances the efficacy of bortezomib against RPMI8226 human multiple myeloma cells[J]. Mol Med Rep, 2013, 7(5): 1641-1645.
35. Fuchs O. Targeting of NF-kappaB signaling pathway, other signaling pathways and epigenetics in therapy of multiple myeloma[J]. Cardiovasc Hematol Disord Drug Targets, 2013, 13(1): 16-34.

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生物学检测技术在多发性骨髓瘤临床应用中的意义

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