Recurrent EGFR alterations in NTRK3 fusion negative congenital mesoblastic nephroma.

ABSTRACT:

Objectives

To identify oncogenic driver mutations in congenital mesoblastic nephroma (CMN) cases lacking ETV6-NTRK3 fusion and discuss their diagnostic value.

Design

The institutional pathology database was queried for cases with a morphologic diagnosis of CMN. Cases positive for ETV6 rearrangement or with unavailable blocks were excluded. Four cases met the inclusion criteria and were sequenced by next-generation sequencing. Three additional cases were contributed by our collaborators.

Results

Three of four internal cases harbor an EGFR kinase domain duplication (KDD), which is known to be oncogenic yet exceedingly rare in other histologies. All three outside cases are positive for EGFR alterations, including KDD in two and a splici

SUBMITTER: Lei L 

PROVIDER: S-EPMC7260589 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature