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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 Chang
Published 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.
Keyphrases
  • small cell lung cancer
  • epidermal growth factor receptor
  • tyrosine kinase
  • acute myeloid leukemia
  • acute lymphoblastic leukemia
  • gene expression
  • dna methylation
  • protein kinase
  • wild type