Clinical Application of Targeted and Genome-wide Technologies: Can We Predict Treatment Responses in Chronic Lymphocytic Leukemia?

Overview

Journal Per Med

Specialties General Medicine
Genetics

Date 2014 Mar 11

PMID 24611071

Citations 4

Authors

Reem Alsolami

Samantha Jl Knight

Anna Schuh

Affiliations

Soon will be listed here.

Abstract

Chronic lymphocytic leukemia (CLL) is low-grade lymphoma of mature B cells and it is considered to be the most common type of hematological malignancy in the western world. CLL is characterized by a chronically relapsing course and clinical and biological heterogeneity. Many patients do not require any treatment for years. Although important progress has been made in the treatment of CLL, none of the conventional treatment options are curative. Recurrent chromosomal abnormalities have been identified and are associated with prognosis and pathogenesis of the disease. More recently, unbiased genome-wide technologies have identified multiple additional recurrent aberrations. The precise predictive value of these has not been established, but it is likely that the genetic heterogeneity observed at least partly reflects the clinical variability. The present article reviews our current knowledge of predictive markers in CLL using whole-genome technologies.

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References

Conlin L, Thiel B, Bonnemann C, Medne L, Ernst L, Zackai E . Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010; 19(7):1263-75. PMC: 3146011. DOI: 10.1093/hmg/ddq003. View

Oscier D, Gardiner A, Mould S, Glide S, Davis Z, Ibbotson R . Multivariate analysis of prognostic factors in CLL: clinical stage, IGVH gene mutational status, and loss or mutation of the p53 gene are independent prognostic factors. Blood. 2002; 100(4):1177-84. View

Alkan C, Coe B, Eichler E . Genome structural variation discovery and genotyping. Nat Rev Genet. 2011; 12(5):363-76. PMC: 4108431. DOI: 10.1038/nrg2958. View

OMalley D, Giudice C, Chang A, Chang D, Barry T, Hibbard M . Comparison of array comparative genomic hybridization (aCGH) to FISH and cytogenetics in prognostic evaluation of chronic lymphocytic leukemia. Int J Lab Hematol. 2010; 33(3):238-44. DOI: 10.1111/j.1751-553X.2010.01284.x. View

Gargis A, Kalman L, Berry M, Bick D, Dimmock D, Hambuch T . Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol. 2012; 30(11):1033-6. PMC: 3827024. DOI: 10.1038/nbt.2403. View

Sellick G, Wade R, Richards S, Oscier D, Catovsky D, Houlston R . Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis. Blood. 2007; 111(3):1625-33. DOI: 10.1182/blood-2007-08-110130. View

Bruno D, Stark Z, Amor D, Burgess T, Butler K, Corrie S . Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. Hum Mutat. 2011; 32(12):1500-6. DOI: 10.1002/humu.21581. View

Hallek M, Fischer K, Fingerle-Rowson G, Fink A, Busch R, Mayer J . Addition of rituximab to fludarabine and cyclophosphamide in patients with chronic lymphocytic leukaemia: a randomised, open-label, phase 3 trial. Lancet. 2010; 376(9747):1164-74. DOI: 10.1016/S0140-6736(10)61381-5. View

Hagenkord J, Monzon F, Kash S, Lilleberg S, Xie Q, Kant J . Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays. J Mol Diagn. 2010; 12(2):184-96. PMC: 2871725. DOI: 10.2353/jmoldx.2010.090118. View

10.

Sportoletti P, Baldoni S, Cavalli L, Del Papa B, Bonifacio E, Ciurnelli R . NOTCH1 PEST domain mutation is an adverse prognostic factor in B-CLL. Br J Haematol. 2010; 151(4):404-6. DOI: 10.1111/j.1365-2141.2010.08368.x. View

11.

Stankovic T, Kidd A, Sutcliffe A, McGuire G, Robinson P, Weber P . ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. Am J Hum Genet. 1998; 62(2):334-45. PMC: 1376883. DOI: 10.1086/301706. View

12.

Barrett M, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R . Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci U S A. 2004; 101(51):17765-70. PMC: 535426. DOI: 10.1073/pnas.0407979101. View

13.

Wang L, Lawrence M, Wan Y, Stojanov P, Sougnez C, Stevenson K . SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med. 2011; 365(26):2497-506. PMC: 3685413. DOI: 10.1056/NEJMoa1109016. View

14.

Edelmann J, Holzmann K, Miller F, Winkler D, Buhler A, Zenz T . High-resolution genomic profiling of chronic lymphocytic leukemia reveals new recurrent genomic alterations. Blood. 2012; 120(24):4783-94. DOI: 10.1182/blood-2012-04-423517. View

15.

Knight S, Yau C, Clifford R, Timbs A, Sadighi Akha E, Dreau H . Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia. Leukemia. 2012; 26(7):1564-75. PMC: 3505832. DOI: 10.1038/leu.2012.13. View

16.

Gonzalez D, Martinez P, Wade R, Hockley S, Oscier D, Matutes E . Mutational status of the TP53 gene as a predictor of response and survival in patients with chronic lymphocytic leukemia: results from the LRF CLL4 trial. J Clin Oncol. 2011; 29(16):2223-9. DOI: 10.1200/JCO.2010.32.0838. View

17.

Clark M, Chen R, Lam H, Karczewski K, Chen R, Euskirchen G . Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011; 29(10):908-14. PMC: 4127531. DOI: 10.1038/nbt.1975. View

18.

Gunderson K, Steemers F, Lee G, Mendoza L, Chee M . A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet. 2005; 37(5):549-54. DOI: 10.1038/ng1547. View

19.

Rosati E, Sabatini R, Rampino G, Tabilio A, Di Ianni M, Fettucciari K . Constitutively activated Notch signaling is involved in survival and apoptosis resistance of B-CLL cells. Blood. 2008; 113(4):856-65. DOI: 10.1182/blood-2008-02-139725. View

20.

Hertlein E, Wagner A, Jones J, Lin T, Maddocks K, Towns 3rd W . 17-DMAG targets the nuclear factor-kappaB family of proteins to induce apoptosis in chronic lymphocytic leukemia: clinical implications of HSP90 inhibition. Blood. 2010; 116(1):45-53. PMC: 2904580. DOI: 10.1182/blood-2010-01-263756. View