Myeloid neoplasms with MYC-positive double minutes: towards recognition as a distinct entity

作者：Isolde Summerer, Wencke Walter, Manja Meggendorfer, Torsten Haferlach, Frank Dicker, Stephan Hütter, Niroshan Nadarajah, Anna Stengel, Constanze Kuehn, Wolfgang Kern, John M. Bennett, Claudia Haferlach, Christian Pohlkamp · 发表于：Blood Cancer Journal · 年份：2025 · DOI：10.1038/s41408-025-01244-6 · 被引用次数：2 · 研究领域：Acute Myeloid Leukemia Research、Myeloproliferative Neoplasms: Diagnosis and Treatment、Retinoids in leukemia and cellular processes

In hematologic malignancies, the occurrence of double minutes (dmin) is a rare cytogenetic phenomenon, predominantly associated with acute myeloid leukemia (AML). The acentric chromosomal structures usually represent oncogene amplification, such as the MYC gene (Fig. 1A ), highlighting a pivotal aspect of cancer genetics [ 1 , 2 ]. Single case reports have indicated an association of MYC -positive dmin ( MYC dmin) and cytomorphologic features similar to those observed in acute promyelocytic leukemia (APL) [ 3 , 4 , 5 , 6 ], including atypically granulated/hypergranulated promyelocytes with high numbers of Auer rods and even faggot cells [ 7 ]. However, comprehensive studies are missing so far. Our study aims to fill the gap in understanding the genotypical and phenotypical characteristics of myeloid neoplasms (MN) with MYC dmin. We retrospectively reviewed all cases with MN sent to the MLL Munich Leukemia Laboratory between November 2005 and November 2022, where chromosome banding analysis (CBA) was available. Of these 75,839 cases 76 harbored MYC dmin. We conducted a comprehensive characterization of these patients focusing on their cytomorphologic, cytogenetic, mutational, transcriptional and clinical features. Fig. 1: Characterization of MYC -positive double minutes ( MYC dmin) cases of myeloid neoplasms with respect to cytogenetics and cytomorphology. A MYC dmin in chromosome banding analysis (left) and in metaphase-FISH analysis (right) using a dual color probe labeling ...