Central review of cytogenetics is necessary for cooperative group correlative and clinical studies of adult acute leukemia: the Cancer and Leukemia Group B experience

Abstract

Abstract. The Cancer and Leukemia Group B has performed central review of karyotypes submitted by institutional cytogenetics laboratories from patients with acute myeloid (AML) and acute lymphoblastic (ALL) leukemia since 1986. We assessed the role of central karyotype review in maintaining accurate, high quality cytogenetic data for clinical and translational studies using two criteria: the proportion of karyotypes rejected (i.e. inadequate), and, among accepted (i.e. adequate) cases, the proportion of karyotypes whose interpretation was changed on central karyotype review. We compared the first four years during which central karyotype review was performed with a recent 4-year period and found that the proportion of rejected samples decreased significantly for both AML and ALL. However, during the latter period, central karyotype reviews still found 8% of AML and 16% of ALL karyotypes inadequate. Among adequate cases, the karyotype was revised in 26% of both AML and ALL samples. Some revisions resulted in changing the patients' assignment to particular World Health Organization diagnostic categories and/or moving patients from one prognostic group to another. Overall, when both data on rejection rates and data on karyotype revisions made in accepted cases were considered together, 32% of AML and 38% of ALL samples submitted were either rejected or revised on central karyotype review during the recent 4-year period. These data underscore the necessity of continued central karyotype review in multiinstitutional cooperative group studies.

Expression and prognostic impact of lncRNAs in acute myeloid leukemia

“…Tables S1 and S8. Cytogenetic analyses were performed in CALGB/Alliance approved institutional laboratories and confirmed by central karyotype review (49), and the diagnosis of normal karyotype was based on ≥20 metaphase cells analyzed in BM specimens subjected to short-term (24 h or 48 h) unstimulated cultures. Molecular studies shown in Tables S1 and S8 were performed as described in SI Methods and Data and elsewhere (11)(12)(13)(14)(15)(16)(17)(18).…”

Clinical outcome of de novo acute myeloid leukaemia patients with normal cytogenetics is affected by molecular genetic alterations: a concise review

“…A recent Cancer and Leukemia Group B report documented cases that were submitted as cytogenetically normal but, upon central karyotype review, were determined to carry such prognostically relevant chromosome aberrations as inv(3)(q21q26), inv(16)(p13q22), t(9;11) (p22;q23) or t(11;19)(q23;p13AE1) (Mró zek et al, 2004b). To further ensure that the karyotype is normal, some, but not all, studies subjected patient specimens to additional tests such as fluorescence in situ hybridisation (FISH) with a comprehensive set of genomic DNA probes capable of detection of the most relevant AML-associated genomic aberrations Döhner et al, 2005) or RT-PCR for the detection of fusion genes, e.g.…”

Ten-year outcome of patients with acute myeloid leukemia not treated with allogeneic transplantation in first complete remission

“…Karyotypes were reported according to the International System for Human Cytogenetic Nomenclature 14 and karyotypes underwent central review. 15 Patients were divided into 4 groups: (1) CBF-AML [inv(16)(p13.1q22)/t(16;16)(p13.1;q22) and t(8;21)(q22;q22)]; (2) normal cytogenetics (CN-AML); (3) other abnormal karyotypes (excluding CBF-AML); and (4) unknown karyotype (due to inadequate mitoses).…”