Congenital mesoblastic nephroma is characterised by kinase mutations including EGFR internal tandem duplications, the ETV6-NTRK3 fusion, and the rare KLHL7-BRAF fusion.
Manli ZhaoMinzhi YinChik Hong KuickHuiyi ChenSze Jet AwKhurshid MerchantEileen Hui Qi NgSandini GunaratneAmos Hong Pheng LohWeizhong GuHongfeng TangKenneth Tou-En ChangPublished in: Histopathology (2020)
EGFR ITD is a consistent genetic event in classic CMN. A majority of cellular CMNs have the ETV6-NTRK3 fusion. Rare cellular CMNs may harbour non-canonical mutations such as the KLHL7-BRAF fusion, which was found in one case. Mixed CMNs may have either EGFR ITD or the ETV6-NTRK3 fusion. Pan-Trk immunohistochemistry is a sensitive, albeit not perfectly specific, marker for NTRK rearrangement. EGFR immunohistochemistry is not helpful as a marker of EGFR ITD.