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Chromosomal rearrangements of the human MLL (mixed lineage leukemia) gene are associated with high-risk infant, pediatric, adult and therapy-induced acute leukemias. We used long-distance inverse-polymerase chain reaction to characterize the chromosomal rearrangement of individual acute leukemia patients. We present data of the molecular characterization of 1590 MLL-rearranged biopsy samples obtained from acute leukemia patients. The precise localization of genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and novel TPGs identified. All patients were classified according to their gender (852 females and 745 males), age at diagnosis (558 infant, 416 pediatric and 616 adult leukemia patients) and other clinical criteria. Combined data of our study and recently published data revealed a total of 121 different MLL rearrangements, of which 79 TPGs are now characterized at the molecular level. However, only seven rearrangements seem to be predominantly associated with illegitimate recombinations of the MLL gene (~ 90%): AFF1/AF4, MLLT3/AF9, MLLT1/ENL, MLLT10/AF10, ELL, partial tandem duplications (MLL PTDs) and MLLT4/AF6, respectively. The MLL breakpoint distributions for all clinical relevant subtypes (gender, disease type, age at diagnosis, reciprocal, complex and therapy-induced translocations) are presented. Finally, we present the extending network of reciprocal MLL fusions deriving from complex rearrangements.
Objective. To investigate if histogram analysis and visually assessed heterogeneity of diffusion-weighted imaging (DWI) with apparent diffusion coefficient (ADC) mapping can predict molecular subtypes of invasive breast cancers.
Materials and Methods. In this retrospective study, 91 patients with invasive breast carcinoma who underwent preoperative magnetic resonance imaging (MRI) with DWI at our institution were included. Two radiologists delineated a 2-D region of interest (ROI) on ADC maps in consensus. Tumors were also independently classified into low and high heterogeneity based on visual assessment of DWI. First-order statistics extracted through histogram analysis within the ROI of the ADC maps (mean, 10th percentile, 50th percentile, 90th percentile, standard deviation, kurtosis, and skewness) and visually assessed heterogeneity were evaluated for associations with tumor receptor status (ER, PR, and HER2 status) as well as molecular subtype.
esults. HER2-positive lesions demonstrated significantly higher mean (), Perc50 (), and Perc90 (), with AUCs of 0.605, 0.592, and 0.652, respectively, than HER2-negative lesions. No significant differences were found in the histogram values for ER and PR statuses. Neither quantitative histogram analysis based on ADC maps nor qualitative visual heterogeneity assessment of DWI images was able to significantly differentiate between molecular subtypes, i.e., luminal A versus all other subtypes (luminal B, HER2-enriched, and triple negative) combined, luminal A and B combined versus HER2-enriched and triple negative combined, and triple negative versus all other types combined.
Conclusion. Histogram analysis and visual heterogeneity assessment cannot be used to differentiate molecular subtypes of invasive breast cancer.