Advanced Invasive Extramammary Paget's Disease Concomitant with Cecal Cancer Possessing Rare Variant of TP53 Single Nucleotide Polymorphism

Yumi Kambayashi; Taku Fujimura; Kentaro Ohuchi; Hisayuki Tono; Yoshihiro Ishida; Atsushi Otsuka; Setsuya Aiba

doi:10.1159/000504339

Advanced Invasive Extramammary Paget's Disease Concomitant with Cecal Cancer Possessing Rare Variant of TP53 Single Nucleotide Polymorphism

Case Rep Oncol. 2019 Nov 6;12(3):855-860. doi: 10.1159/000504339. eCollection 2019 Sep-Dec.

Authors

Yumi Kambayashi¹, Taku Fujimura¹, Kentaro Ohuchi¹, Hisayuki Tono¹, Yoshihiro Ishida², Atsushi Otsuka², Setsuya Aiba¹

Affiliations

¹ Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
² Department of Dermatology, Kyoto University, Kyoto, Japan.

Abstract

Patients with invasive extramammary Paget's disease have an increased risk of secondary malignancy, mostly occurring colorectal carcinoma. TP53 is a regulator of apoptosis, cell cycle arrest, and DNA damage response pathways, and has been reported as one of the genetic biomarkers for colorectal carcinoma. In this report, we describe a case of advanced invasive EMPD concomitant with cecal cancer with a rare variant of TP53 single nucleotide polymorphism (rs121912665). To our knowledge, there is no English report that presents EMPD concomitant with cecal carcinoma.

Keywords: CK20; CK7; Cecal carcinoma; EMPD; Immunohistochemical staining; TP53 SNP.

Publication types

Case Reports