Genome-wide Interrogation of Germline Genetic Variation Associated With Treatment Response in Childhood Acute Lymphoblastic Leukemia

Yang, Jun J.; Cheng, Cheng; Yang, Wenjian; Pei, Deqing; Cao, Xueyuan; Fan, Yiping; Pounds, Stanley; Neale, Geoffrey; Treviño, Lisa R.; French, Deborah; Campana, Dario; Downing, James R.; Evans, William E.; Pui, Ching‐Hon; Devidas, Meenakshi; Bowman, W. Paul; Camitta, Bruce M.; Willman, Cheryl L.; Davies, Stella M.; Borowitz, Michael J.; Carroll, William L.; Hunger, Stephen P.; Relling, Mary V.

doi:10.1001/jama.2009.7

Cited by 202 publications

(169 citation statements)

References 67 publications

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“…[68][69][70][71][72][73][74][75][76][77][78] While in the era of genomics the number of papers in the field of leukemia has risen amazingly, it remains difficult to filter out the information, which can be used for improved treatment quality and better prevention of disease recurrence. Certainly one prerequisite is reproducibility of data, and thus, uniform approaches are needed if such techniques shall be used routinely in clinical diagnostics and for risk assessment.…”

Section: Discussionmentioning

confidence: 99%

Long-term results of five consecutive trials in childhood acute lymphoblastic leukemia performed by the ALL-BFM study group from 1981 to 2000

Möricke¹,

Zimmermann

Reiter³

et al. 2009

Leukemia

465

303

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Section: Discussionmentioning

confidence: 99%

Long-term results of five consecutive trials in childhood acute lymphoblastic leukemia performed by the ALL-BFM study group from 1981 to 2000

Möricke¹,

Zimmermann

Reiter³

et al. 2009

Leukemia

465

303

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“…[31][32][33] We will also study inherited genetic variations of the patients to elucidate (i) the pharmacogenetic basis for the observed differences in treatment responses and (ii) the biology of the leukemic cells. 34 Figure 1 Event-free survival (EFS), survival, and cumulative incidence of isolated or any CNS relapse in TPOG-97. …”

Section: -Year Efs (%)mentioning

confidence: 99%

Long-term results of Taiwan Pediatric Oncology Group studies 1997 and 2002 for childhood acute lymphoblastic leukemia

et al. 2009

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The long-term outcome of 1390 children with acute lymphoblastic leukemia (ALL), treated in two successive clinical trials (Taiwan Pediatric Oncology Group (TPOG)-ALL-97 and TPOG-ALL-2002) between 1997 and 2007, is reported. The event-free survival improved significantly (P ¼ 0.0004) over this period, 69.3±1.9% in 1997-2001 to 77.4±1.7% in 2002-2007. A randomized trial in TPOG-97 testing L-asparaginase versus epidoxorubicin in combination with vincristine and prednisolone for remission induction in standard-risk (SR; low-risk) patients yielded similar outcomes. Another randomized trial, in TPOG-2002, showed that for SR patients, two reinduction courses did not improve long-term outcome over one course. Decreasing use of prophylactic cranial irradiation in the period 1997-2008 was not associated with increased rates of CNS relapse, prompting complete omission of prophylactic cranial irradiation from TPOG protocols, beginning in 2009. Decreased use of etoposide and cranial irradiation likely contributed to the low incidence of second cancers. High-risk B-lineage ALL, T-cell, CD10 negativity, t(9;22), infant, and higher leukocyte count were consistently adverse factors, whereas hyperdiploidy 450 was a consistently favorable factor. Higher leukocyte count and t(9;22) retained prognostic significance in both TPOG-97 and TPOG-2002 by multivariate analysis. Although long-term outcome in TPOG clinical trials is comparable with results being reported worldwide, the persistent strength of certain prognostic variables and the lower frequencies of favorable outcome predictors, such as ETV6-RUNX1 and hyperdiploidy 450, in Taiwanese children warrant renewed effort to cure a higher proportion of patients while preserving their quality of life.

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“…Toward this end, GWAS has been particularly successful in identifying pharmacogenetic (PGx) loci by SNP genotyping and expression quantitative trait loci (eQTL) analysis. Notable examples include mutations in Interleukin-15 (IL15) associated with altered disposition of antileukemic chemotherapy (pediatric ALL), as well as those in CYP2C9 associated with bisphosphonate-induced jaw osteonecrosis (multiple myeloma), among others [34][35][36] (see Table 2 for a detailed list of known PGx loci). In part, the success of GWAS is related to the fact that many ADR-associated mutations are relatively common in the population, since these 'evoked' phenotypes are otherwise not deleterious, such mutations are typically not under negative selection pressure.…”

Section: Application Of Pharmacogenomics (Pgx) To Hctmentioning

confidence: 99%

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation

Levine

Hákonarson

et al. 2013

Eur J Hum Genet

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Recent developments in second-generation sequencing (SGS) technologies provide an avenue for achieving rapid and accurate high-throughput analysis of human and microbial genomic diversity. SGS technologies have the potential to transform existing medical management of complex and life-threatening medical conditions by enabling clinicians to develop disease-targeted clinical care plans for each patient. In this review, we outline how innovative SGS-based approaches can improve the care of recipients of allogeneic hematopoietic cell transplantation (HCT), a life-saving procedure that carries a 1-year mortality risk of over 30%. We specifically evaluate foreseeable applications of SGS-based technology in facilitating rapid, phase-sensitive human leukocyte antigen (HLA) typing, assessment of non-HLA genomic compatibility, identifying patients at high risk for adverse drug reactions, and post-HCT monitoring for engraftment, minimal residual disease and infection. We conclude that innovative SGS approaches have the capacity to revolutionize the HCT recipient risk assessment process, support non-invasive clinical monitoring and improve patient outcomes, thereby setting the stage for a new era of genomically informed patient-centered medicine.

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Genome-wide Interrogation of Germline Genetic Variation Associated With Treatment Response in Childhood Acute Lymphoblastic Leukemia

Cited by 202 publications

References 67 publications

Long-term results of five consecutive trials in childhood acute lymphoblastic leukemia performed by the ALL-BFM study group from 1981 to 2000

Long-term results of five consecutive trials in childhood acute lymphoblastic leukemia performed by the ALL-BFM study group from 1981 to 2000

Long-term results of Taiwan Pediatric Oncology Group studies 1997 and 2002 for childhood acute lymphoblastic leukemia

Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation

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