High rate of PIK3CA mutations but no TP53 mutation in low-grade adenosquamous carcinoma of the breast

Abstract

Low-grade adenosquamous carcinoma of the breast (LGASC) is a rare variant of metaplastic carcinoma characterized by a favorable outcome and histologically composed of glandular and squamous elements in a spindle cell background typically associated with a lymphocytic stromal reaction. Due to its rarity, the immunophenoptypical and genetic profile LGASC has not been sufficiently characterized. The aim of this study was to gain insight into the molecular and phenotypic characteristics of LGASC. We reviewed the clinical, morphological features and detailed the immunohistochemical characteristics of a retrospective series of 13 LGASCs. Targeted sequencing of 50 genes was performed in 10/13 cases. Identified mutations were further assessed by Sanger sequencing in a validation series of 11 additional cases.

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