Fig. 1: Pathological view of the colorectal cancers, pedigree, and schematic diagram of a novel MLH1 mutation.
From: A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
a MLH1 immunostaining of the rectal cancer specimen demonstrated normal expression within the inflammatory cells and interstitial cells, but null expression in the cancer cells, which were found partially floating in a mucinous lake (×200). b Pathology of the ascending colon cancer showed moderate to poor differentiation within the mucosa (H&E, ×100). c The patient’s parents divorced when he was young, and his father’s subsequent health condition was unknown. No maternal relatives were cancer sufferers. P proband. d A novel heterozygous mutation was detected by whole-exome sequencing in the MLH1 intron 6 splice site [NM_000249.3:c.545+2T>C (IVS6+2T>C); localization was Chr3:37050398] and confirmed by the Sanger method
