Data on MECOM rearrangement-driven chromosomal aberrations in myeloid malignancies

Abstract

Data in this article presents the results of conventional cytogenetics and fluorescence in situ hybridization (FISH) analyses in 129 patients with confirmed MECOM rearrangement ( https://doi.org/10.1016/j.cancergen.2019.03.002 ) [1]. Generally, the MECOM rearrangement has arisen through translocation, inversion, and insertion and/or unknown mechanism. In addition to the typical chromosomal aberrations, inv(3)(q21q26.2) and t(3; 3)(q21; q26.6) [2–4], over 50% of cases presented here exhibit a wide spectrum of MECOM rearrangement-driven, atypical chromosomal aberrations, including inv(3) with breakpoint other than 3q21; t(1; 3); t(2; 3); t(3; 6); t(3; 8); t(3; 12); t(3; 17); t(3; 21) as well as an insertion of 3q26.2 into different chromosomes. These cases are thoroughly characterized by karyotyping, interphase-, metaphase-, map-back FISH and whole chromosomal painting (WCP) analyses.

Comparison of myeloid neoplasms with nonclassic 3q26.2/MECOM versus classic inv(3)/t(3;3) rearrangements reveals diverse clinicopathologic features, genetic profiles, and molecular mechanisms of MECOM activation

“…MECOM rearrangements were reported not only in classic types, t(3;3)(q21;q26.2) or inv(3)(q21q26.2), recognized by WHO, but also in nonclassic types involving variable partner genes 5,7,21 . Two largest studies of MECOM ‐rearranged myeloid neoplasms, one from MD Anderson group and another from Dutch–Belgian Hemato‐Oncology Cooperative Group/Swiss Group for Clinical Cancer Research (HOVON/SAKK) and German–Austrian AML Study Group, 5,7,21 described nonclassic 3q26.2/ MECOM rearrangements, including translocations t(3;21)(q26.2;q22), t(2;3)(p23;q26.2), t(3;12)(q26.2;p13), t(3;8)(q26.2;q24), t(3;6)(q26.2;q25), t(3;17)(q26.2;q22), and t(1;3)(p36;q26.2), inversions, insertions, or cryptic rearrangements detected by FISH analysis in 54% and 43% of study cases, 5,7 respectively. Cases with t(3;8)(q26.2;q24), t(3;12)(q26.2;p13) or t(3;21)(q26.2;q22) may involve MYC , ETV6 or RUNX1 as the common partners.…”