Case report
Open access
Aug 2026
Muir–Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole‐Genome Sequencing: A Case Report
It is illustrated that concordant mismatch repair protein loss across multiple tumors provides compelling morphological evidence to guide pathologists in reconsidering negative panel results and pursuing comprehensive genomic investigation to identify pathogenic intronic variants.
Keisuke Noda, H. Kurohama, Katsuya Matsuda et al.
· Pathology international (Pri... · 0 citations