From Soft tissue pathology

Detecting beta-catenin mutations in desmoid-type fibromatoses

Next generation gene sequencing is a very impressive technology that has a lot of potential but is only just beginning to find its uses in diagnostic histopathology. Adrienne Flanagan and her team at University College London have published an excellent study on the use of next-gen sequencing in the detection of beta-catenin mutations in desmoid-type fibromatoses. The clinical importance of detecting these mutations is that they define the entity of desmoid-type fibromatoses which are locally aggressive and tend to recur when compared to non-desmoid fibromatoses. Prof. Flanagan and her team found that next-gen sequencing detected beta-catenin mutations with a sensitivity of 92.36% and a specificity of 100%. All the mutations that were detected by the older technology of enzyme digestion and polymerase chain reaction were also detected by next-gen sequencing but additional, probably clinical-relevant, mutations were discovered by the sequencing methodology. This study begins to show how next-gen sequencing will affect diagnostic histopathology in the next few years.