Solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (solid papillary carcinomas with reverse polarity) harbour recurrent mutations affecting IDH2 and PIK3CA: a validation cohort

• DOI: 10.1111/his.13522
• Publication Date: 2018-03-31T06:27:55Z
• Authors: John R Lozada; Thais Basili; Fresia Pareja; Barbara Alemar; Arnaud Da Cruz Paula; Rodrigo Gularte‐M...; Dilip D Giri; Patricia Querzoli; Gabor Cserni; Emad A Rakha; Maria P Foschini; Jorge S Reis‐Filho; Edi Brogi; Britta Weigelt; Felipe C Geyer
• Keywords: IDH2

Aims Solid papillary breast carcinoma resembling the tall cell variant of thyroid neoplasms ( BPTC ), also known as solid with reverse polarity, is a rare histological type cancer that resembles morphologically carcinoma. s are characterised by IDH 2 R172 hotspot somatic mutations or mutually exclusive TET mutations, concurrently affecting PI 3K pathway‐related genes. We sought to characterise their histology and investigate frequency PIK 3 CA in an independent cohort s, well conventional carcinomas SPC s). Methods results Six not previously analysed molecularly, 10 were reviewed centrally. Tumour DNA was extracted from microdissected sections subjected Sanger sequencing locus exons 9 20 . All six solid, follicular architecture circumscribed, invasive tumour nodules composed epithelial cells polarity. identified all (three R172S, two R172T one R172G), four which harboured (two H1047R, Q546K Q546R). By contrast, lacked while mutation (H1047R). Conclusion validated presence 100% 67% tested, respectively, documented absence s. These findings confirm genotypical–phenotypical correlation reported , constitutes entity distinct