Is amplification of c-MYC, MLL and RUNX1 genes in AML and MDS patients with trisomy 8, 11 and 21 a factor for a clonal evolution in the karyotype?

Cytogenetic Profile in 7209 Indian Patients with <i>de novo</i> Acute Leukemia: A Single Centre Study from India

“…The aberrations of chromosome 5, 7 and 8 were comparable with other studies however, these aberrations occurred with higher frequency compared to that in both adult and pediatric Chinese population [6] [31] [39] [40] [47]. The RUNX1 and MLL amplification frequencies (both 1%) of adult AML in our study have been reported as rare secondary events with dismal outcome [49] [50].…”

Repeated Lineage Switches in an Elderly Case of Refractory B-Cell Acute Lymphoblastic Leukemia With MLL Gene Amplification: A Case Report and Literature Review

“…These clinical observations support the hypothesis that MLL -fusion leukemia is prone to lineage ambiguity. Considering that the overexpression of the wild-type MLL protein produced by MLL gene amplification shares some target genes (e.g., HOXA , MEIS1 ) as well as an epigenetic regulatory system (e.g., histone H3K4 trimethylation) with MLL fusion proteins ( 13 , 25 – 28 ), MLL amplification may potentially play a role in leukemia lineage plasticity. Nevertheless, the differences and redundancies between MLL rearrangements and MLL amplification remain controversial.…”

“…MLL gene amplification is found in approximately 1% of AML cases ( 12 – 14 , 29 ). Unlike the broad immunophenotypic repertoire of MLL -rearranged leukemias, MLL -amplified leukemia has been reported mostly in myeloid cases, including AML, MDS, and therapy-related myeloid neoplasms (t-MNs) previously treated with alkylating agents ( 12 – 15 , 25 , 26 , 28 – 30 ). B-ALL with MLL amplification is extremely rare, with only a few cases described in the literature to date ( 29 – 31 ).…”

dup(1)(q11-q44) in myeloid malignancies

“…In 8 patients dup(1q) was found in association with t(9;22)(q34;q11) (Kohno and Sandberg 1980;Smadja et al, 1984;Hild and Fonatsch., 1990;Lee et al, 2003;Schoch et al, 2003;Palandri et al, 2009;Sun et al, 2011;Fabarius et al, 2011) and it was detected in a Ph-negative clone while on imatinib therapy in 3 patients (Gozzetti et al, 2003;Herens et al, 2003;Abruzzese et al, 2007). Acute myeloid leukemia: There were 53 patients diagnosed with various forms of AML: 1 AML-M0 (Angelova et al, 2015), 4 AML-M1 (Pui et al, 1990;Tanaka et al, 1997;Taylor et al, 2000;Jekarl et al, 2010), 9 AML-M2 (CG et al, 1988;Tien et al, 1988;Kobayashi et al, 1990;Stuppia et al, 1990;Kudoh et al, 1995;Tamura et al, 1998;Lee et al, 2004;Kim et al, 2009;Beach et al, 2012), 3 AML-M3 (Berger et al, 1988Cuneo et al 1992;Batzios et al, 2009), 7 AML-M4 (Haas et al, 1985;Misawa et al, 1988;Raynaud et al, 1994;Hda et al, 1996;Forestier et al, 2003;Schmidt et al, 2004;Bao et al, 2006), 5 AML-M5 (Orazi et al, 1988;Soekarman et al, 1992;Harrison et al, 1998;Panagopoulos et al, 2000;Gmidene et al, 2012), 2 AML-M6 ...…”