Clinical, Molecular, and Prognostic Significance of WHO Type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and Various Other 3q Abnormalities in Acute Myeloid Leukemia

Abstract

Various categories of 3q abnormalities in AML can be distinguished according to their clinical, hematologic, and genetic features. AML with inv(3)/t(3;3) represents a distinctive subgroup with unfavorable prognosis.

Azacitidine treatment for patients with myelodysplastic syndrome and acute myeloid leukemia with chromosome 3q abnormalities

“…Interestingly, additional chromosome 7 abnormalities did not impaired survival, which is in line with prior reports suggesting a benefit of AZA in patients with monosomy 7 [17]. However, presence of 3q remains associated with a dismal outcome with was short with median survival ranging between 5 and 12 months [4,17,22] underlining the need for effective consolidation therapy.…”

“…This compares favourably with previously published series of 3q AML patients treated with intensive chemotherapy for which CR rates ranged between 30% and 64% [22]. It is worth noting that the AZA treated patients reported here had a significantly higher median age than those treated with intensive chemotherapy and that 31% of them where heavily pretreated, which makes these results even more encouraging.…”

“…Almost half of the patients with 3q abnormalities had a secondary or therapy-related AML/MDS, as previously reported by others [5,22]. Using the categories proposed by Lugthart et al for the classification of 3q abnormalities sub-types [12,22] (ie.…”

“…Almost half of the patients with 3q abnormalities had a secondary or therapy-related AML/MDS, as previously reported by others [5,22]. Using the categories proposed by Lugthart et al for the classification of 3q abnormalities sub-types [12,22] (ie. group A: inv(3)/t(3;3); group B: balanced t(3q26); group C: balanced t(3q21) and group D: other 3q abnormalities), we found comparable frequencies that ranged from 25 to 32%, 18 to 23%, 5 to 7% and 43 to 46% for groups A, B, C and D, respectively.…”

The inv(3)(q21q26)/t(3;3)(q21;q26) is frequently accompanied by alterations of the RUNX1, KRAS and NRAS and NF1 genes and mediates adverse prognosis both in MDS and in AML: a study in 39 cases of MDS or AML

“…Additional chromosomal alterations were detected in 24 of 39 patients (61.5%), more frequently in AML than in MDS (16/23; 69.6% vs 8/16; 50.0%; NS). Corresponding to previous reports, 1,5 aberrations most frequently affected chromosome 7 (16/39 cases; 41.0%; of the total cohort; in detail: isolated À7: n ¼ 11; chromosome 7 alterations plus others: n ¼ 4; del(7q): n ¼ 1). Chromosome 5 alterations were observed in six cases (Table 1 and Supplementary Table S1 Specifying on the different cytomorphological cohorts, alterations of KRAS, NF1 and RUNX1 were more frequent in AML than in MDS patients (KRAS: 6/18; 33.3% in AML vs 0/7; 0% in MDS; NF1: 3/15; 20.0% vs 0/9; 0%; RUNX1: 5/20; 25.0% vs 1/9; 11.1%; JAK2V617F: 1/21; 4.8% vs 0/9; 0%), but statistical significance was not reached.…”