Details

Autor(en) / Beteiligte

• Tiu, Ramon V.
• Gondek, Lukasz P.
• O'Keefe, Christine L.
• Elson, Paul
• Huh, Jungwon
• Mohamedali, Azim
• Kulasekararaj, Austin
• Advani, Anjali S.
• Paquette, Ronald
• List, Alan F.
• Sekeres, Mikkael A.
• McDevitt, Michael A.
• Mufti, Ghulam J.
• Maciejewski, Jaroslaw P.

Titel

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

Ist Teil von

• Blood, 2011-04, Vol.117 (17), p.4552-4560

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.