Tall cell carcinoma with reversed polarity: case report with gene sequencing and literature review.

Tall cell carcinoma with reversed polarity (TCCRP) is an extremely rare type of invasive breast cancer with only 17 literatures and 75 cases reported. Knowledge on TCCRP is still scanty. The present study reported 2 cases of TCCRP, analyzed their clinicopathological characteristics, and used whole exome sequencing to perform genetic testing. Both two cases were proved to have typical clinicopathological manifestations (solid and papillary architectures lined by tall columnar cells with nuclei displaying "reverse polarization") and hotspot mutations (IDH2 and PIK3CA mutations) of TCCRP. Furthermore, positive expression of TTF-1 was found in a small number of tumor cells nuclei and normal ductal epithelial cells, while the negative rate of TTF-1 in previous case reports was 100%. Attention should be paid in core needle biopsy to avoid misdiagnosis. In addition, this article also reviewed all previous cases and demonstrated that the positive expression of calretinin might have an indicative significance for TCCRP, which could be used as one of the auxiliary diagnosis tools. The diagnosis of TCCRP requires comprehensive analysis of clinical pathology and genetic testing results. There is no clear treatment standard for TCCRP currently, further research should be reported to characterize and deeply investigate the diagnosis and treatment criteria of TCCRP. 2021 Gland Surgery. All rights reserved.