ATRX

This study characterized the genomic landscape of leiomyosarcoma, a rare and aggressive tumor, by analyzing a large dataset from the AACR Project GENIE. Researchers examined over 1,000 tumor samples, identifying the most frequent somatic mutations and copy number alterations. TP53, RB1, and ATRX were the most commonly altered genes, with homozygous deletions of RB1 and TP53, and MAP2K4 amplifications. The study also highlighted enriched IGF2 and AXIN1 alterations in metastatic samples, suggesting their potential role in disease progression. These findings enhance the understanding of leiomyosarcoma biology and could guide future precision oncology strategies.

Clear cell adenocarcinoma of the urinary tract (CCA-UT) is a rare and aggressive tumor with limited understanding of its clinicopathologic and molecular features. This multi-institutional study characterized 35 cases, showing a female predominance and advanced stage at presentation. Genomic alterations were found in 91% of cases, frequently involving chromatin modifiers such as ATRX, KMT2C, ARID1A, and ARID1B. The heterogeneous molecular profile of these tumors highlights the critical role of molecular analysis in identifying potential therapeutic targets.