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Blood, 15 November 2005, Vol. 106, No. 10, pp. 3553-3558.
Prepublished online as a Blood First Edition Paper on July 19, 2005; DOI 10.1182/blood-2005-05-1981.
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Submitted May 17, 2005
Accepted July 8, 2005
Relationship of patient survival and chromosome anomalies detected in metaphase and/or interphase cells at diagnosis of myeloma
Gordon Dewald*, Terry Therneau, Dirk Larson, You Kyoung Lee, Stephanie Fink, Stephanie Smoley, Sarah Paternoster, Adewale Adeyinka, Rhett Ketterling, Daniel L Van Dyke, Rafael Fonseca, and Robert Kyle
Cytogenetics Laboratory, Mayo Clinic, Rochester, MN, USA
Biostatistics, Mayo Clinic, Rochester, MN, USA
Clinical Laboratory Medicine, Soon Chun Hyang University Bucheon Hospital, Seoul, Korea, Republic of
Division of Hematology, Mayo Clinic, Rochester, MN, USA
* Corresponding author; email: gdewald{at}mayo.edu.
Abstract
The clinical efficacy of evaluating genetic anomalies in metaphase cells versus interphase nuclei for multiple myeloma (MM) is poorly understood. Therefore, survival for 154 patients with newly diagnosed untreated MM was compared with results from analysis of metaphase and interphase cells. Metaphases were studied by conventional cytogenetics and fluorescent-labeled DNA probes (FISH) while interphase nuclei were evaluated only by FISH. All FISH studies were done using DNA probes to detect t(4;14)(p16;q32), t(11;14)(q13;q32), t(14;16)(q32;q23), del(17)(p13.1) and chromosome 13 anomalies. Metaphases were abnormal by cytogenetics and/or metaphase FISH in 61 (40%) patients. Abnormal interphase nuclei were observed in 133 (86%) patients, including each patient with abnormal metaphases. FISH was a necessary adjunct to cytogenetics to detect t(4;14) and t(14;16) in metaphase cells. Patient survival was especially poor for patients with >50% abnormal interphase nuclei, though this result was more likely due to level of plasma cells than specific chromosome anomalies. For metaphase data, patients with t(4;14), t(14;16), del(17)(p13.1) and/or chromosome 13 anomalies (primarily monosomy 13) had poor survival. A different outcome was observed for interphase data as patients with t(4;14) or t(14;16) had poor survival while patients with chromosome 13 anomalies had intermediate survival: interphase FISH did not substitute for metaphase analysis.
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