Yolk Sac Tumor in a Recurrence of Colonic Adenocarcinoma With Shared Mutations in APC and TP53 Genes: A Case Report

• Published in: International journal of surgical pathology 2022-09, Vol.30 (6), p.646-651
• Main Authors: Otani, Tomoyuki, Kanemura, Hiroaki, Kimura, Masatomo, Mitani, Seiichiro, Takeda, Masayuki, Matsuki, Mitsuru, Matsumura, Noriomi, Satou, Takao, Nakagawa, Kazuhiko, Ito, Akihiko
• Format: Article
• Language: English
• Subjects: Case reports; Colorectal cancer; Mutation; Tumors
• ISSN: 1066-8969; 1940-2465
• DOI: 10.1177/10668969211069963

Only four cases of colorectal adenocarcinoma with a yolk sac tumor (YST) component have been reported in the English literature. No genetic investigation has been performed in these cases. We report a case of colorectal adenocarcinoma in which the recurrent tumor had a YST component. A 49-year-old woman presented with a pelvic tumor three years after endoscopic mucosal resection of sigmoid colon adenocarcinoma. The pelvic tumor consisted of an undifferentiated carcinoma component and a YST component. The serum alpha-fetoprotein level was elevated to 42 ng/mL. Treatment as conventional colorectal carcinoma produced some anticancer effects, but the patient died 14 months after the recurrence and 49 months after the EMR. With the help of the next-generation sequencing results of the recurrent tumor, APC c.835 − 8A > G and TP53 c.524G > A (p.R175H) mutations were identified by direct sequencing in both the primary and the recurrent tumors, confirming the relationship between the two metachronous tumors.