Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies

被引：147

作者：

Tiu, Ramon V. ^{[3
]}

Gondek, Lukasz P.

O'Keefe, Christine L.

Elson, Paul ^{[1
]}

Huh, Jungwon ^{[4
]}

Mohamedali, Azim ^{[5
]}

Kulasekararaj, Austin ^{[5
]}

Advani, Anjali S. ^{[3
]}

Paquette, Ronald ^{[6
]}

List, Alan F. ^{[7
,8
]}

Sekeres, Mikkael A. ^{[3
]}

McDevitt, Michael A. ^{[9
,10
,11
,12
]}

Mufti, Ghulam J. ^{[5
]}

Maciejewski, Jaroslaw P. ^{[2
,3
]}

机构：

[1] Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44195 USA

[2] Cleveland Clin, Taussig Canc Inst, Dept Translat Hematol & Oncol Res, Cleveland, OH 44195 USA

[3] Cleveland Clin, Taussig Canc Inst Ctr, Dept Hematol Oncol & Blood Disorders, Cleveland, OH 44195 USA

[4] Ewha Womans Univ, Sch Med, Seoul, South Korea

[5] Kings Coll London Sch Med, Dept Haematol Med, Rayne Inst, London SE5 9NU, England

[6] Univ Calif Los Angeles Med Ctr, Dept Med, Los Angeles, CA USA

[7] H Lee Moffitt Canc Ctr & Res Inst, Immunol Program, Tampa, FL USA

[8] H Lee Moffitt Canc Ctr & Res Inst, Malignant Hematol Program, Tampa, FL USA

[9] Johns Hopkins Univ Sch Med, Div Hematol, Dept Internal Med, Baltimore, MD USA

[10] Johns Hopkins Univ Sch Med, Div Hematol, Dept Oncol, Baltimore, MD USA

[11] Johns Hopkins Univ Sch Med, Div Hematol Malignancy, Dept Internal Med, Baltimore, MD USA

[12] Johns Hopkins Univ Sch Med, Div Hematol Malignancy, Dept Oncol, Baltimore, MD USA

来源：

BLOOD | 2011年 / 117卷 / 17期

基金：

美国国家卫生研究院;

关键词：

ACUTE PROMYELOCYTIC LEUKEMIA; ACQUIRED UNIPARENTAL DISOMY; INTERNATIONAL WORKING GROUP; CYTOGENETIC ABNORMALITIES; RESPONSE CRITERIA; RETINOIC ACID; MUTATIONS; TET2; POLYMORPHISM; MDS;

D O I：

10.1182/blood-2010-07-295857

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Single nucleotide polymorphism arrays (SNP-As) have emerged as an important tool in the identification of chromosomal defects undetected by metaphase cytogenetics (MC) in hematologic cancers, offering superior resolution of unbalanced chromosomal defects and acquired copy-neutral loss of heterozygosity. Myelodysplastic syndromes (MDSs) and related cancers share recurrent chromosomal defects and molecular lesions that predict outcomes. We hypothesized that combining SNP-A and MC could improve diagnosis/prognosis and further the molecular characterization of myeloid malignancies. We analyzed MC/SNP-A results from 430 patients (MDS = 250, MDS/myeloproliferative overlap neoplasm = 95, acute myeloid leukemia from MDS = 85). The frequency and clinical significance of genomic aberrations was compared between MC and MC plus SNP-A. Combined MC/SNP-A karyotyping lead to higher diagnostic yield of chromosomal defects (74% vs 44%, P < .0001), compared with MC alone, often through detection of novel lesions in patients with normal/noninformative (54%) and abnormal (62%) MC results. Newly detected SNP-A defects contributed to poorer prognosis for patients stratified by current morphologic and clinical risk schemes. The presence and number of new SNP-A detected lesions are independent predictors of overall and event-free survival. The significant diagnostic and prognostic contributions of SNP-A-detected defects in MDS and related diseases underscore the utility of SNP-A when combined with MC in hematologic malignancies. (Blood. 2011;117(17):4552-4560)

引用

页码：4552 / 4560

页数：9

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