title: ETV6-NTRK3 gene fusion in a secretory carcinoma of the breast of a male-to-female transsexual.
abstract: Secretory carcinomas of the breast were first described as "juvenile carcinoma" by McDivitt and Stewart in a cohort of children. This term has been replaced by the term "secretory breast carcinoma", because the entity can occur at any time of life. Carcinoma of the male breast is uncommon and accounts for approximately 1% of all cancers in men. Recently, it has been reported that human secretory breast carcinoma expresses the ETV6-NTRK3 gene fusion that was previously cloned in pediatric mesenchymal cancers. We present the case of a 46-year-old male-to-female transsexual in whom a secretory breast carcinoma was an incidental finding. As confirmation of the histopathological diagnosis we detected the novel ETV6-NTRK3 gene fusion in this tumor.
authors.affiliation: Institute of Pathology, University Hospital of Essen, Hufelandstrasse 55, D-45122 Essen, Germany. florian.grabellus@medizin.uni-essen.de
authors.forename: F
authors.initials: F
authors.lastname: Grabellus
authors.forename: K
authors.initials: K
authors.lastname: Worm
authors.forename: A
authors.initials: A
authors.lastname: Willruth
authors.forename: K J
authors.initials: KJ
authors.lastname: Schmitz
authors.forename: F
authors.initials: F
authors.lastname: Otterbach
authors.forename: H A
authors.initials: HA
authors.lastname: Baba
authors.forename: R
authors.initials: R
authors.lastname: Kimmig
authors.forename: K A
authors.initials: KA
authors.lastname: Metz
mesh_terms: D018567:Breast Neoplasms, Male / Q000235:genetics* / Q000473:pathology*; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology*; D004273:DNA, Neoplasm / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000032:analysis / Q000096:biosynthesis*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014189:Transsexualism; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004273:DNA, Neoplasm; D015514:Oncogene Proteins, Fusion; C484319:ETV6-NTRK3 fusion protein, human; D020812:Receptor, trkC; D000097764:ETS Translocation Variant 6 Protein