Cytogenetics and their prognostic value in de novo acute myeloid leukaemia: a report on 283 cases

Abstract

Cytogenetic analysis was successfully performed at diagnosis in 283 patients with de novo acute myeloid leukaemia (AML), including eight children aged 6-15 and 275 adults. Mean age was 50.3 (range 6-86) and the M/F ratio was 1.23. 214 patients were treated by intensive chemotherapy and 75.2% achieved complete remission. Patients with inv(16) and t(8;21) had very high CR rates whereas those with complex cytogenetic abnormalities (with or without involvement of chromosomes 5 and/or 7) had a poor response to therapy. Other karyotypic abnormalities and normal karyotypes were associated with intermediate CR rates. In a multivariate analysis, cytogenetics were the best prognostic factor of the achievement of CR, followed by age and platelet count. Median actuarial disease-free survival (DFS) of the patients who achieved CR was 19 months. No significant differences in actuarial DFS were found according to karyotype. However, no relapses were seen in patients with inv(16) and t(9;11) or its variants. Conversely, the median DFS was only 12.5 months in patients with t(15;17). Median actuarial DFS was 24 months in patients with t(8;21), but a high incidence of early relapses were seen, and the actuarial DFS was only 54% at 12 months. Patients with trisomy 8 also had a median actuarial DFS of 24 months. Our findings do not support the previously reported 'favourable' prognosis of t(15;17) translocations. They suggest that, although it is characterized by a high CR rate, t(8;21) might be associated with a high incidence of early relapses and that, finally, inv(16) might be the only 'favourable' cytogenetic rearrangement in AML. Furthermore, the prognosis associated with t(9;11) or its variants (at least in adults), and trisomy 8 might be less severe than suggested in other studies.

Cytogenetic profile of de novo acute myeloid leukemia: a study based on 1432 patients in a single institution of China

“…However, because the telomeres were heavily painted using R-banding, theoretically, it should be a more sensitive method than G-banding in detecting abnormalities that involve the ends of chromosomes, such as t (15;17). In support of this, a French report showed a high incidence of t(15;17) in their M3 cases (97%), 27 indicating that this abnormality would seldom be missed by the technique. Thus, the discrepancies between the frequencies of t(15;17) might be attributed to other factors: (1) Molecular analysis was not initially applied for the detection of cytogenetic abnormalities.…”

Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML

“…3 This type of AML has a high complete remission (CR) rate with standard chemotherapy, and a prolonged survival when sequential high-dose cytarabine is administered. [4][5][6][7] Previous reports including ours have demonstrated that t(8;21)AML shows high levels of CD34 and DR expression, with a prevalent positivity for CD19 and CD56 surface markers and a low expression of CD33 and CD7 when compared to AML with normal or other aberrant karyotypes, and eosinophilia is also often observed in t(8;21) AML. [8][9][10][11][12][13][14][15] Cytogenetically, the t(8;21) AML is frequently associated with a loss of the sex chromosome Y in males and inactive X in females; 3 3.4% of the cases are variant translocations.…”

The prognostic impact of 17p (p53) deletion in 2272 adults with acute myeloid leukemia

“…On the one hand, large studies confirmed the independent prognostic role of cytogenetics for therapy outcome. [1][2][3][4][5][6] Most of the recurring chromosomal aberrations can be associated with individual prognosis. On the other hand, there are more infrequent aberrations of which the prognosis has not been evaluated so far.…”