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Advanced Endometrial Cancer in Phenylketonuria

Jun Kido, Hiroshi Mitsubuchi, Fumiko Itoh, Takanobu Yoshida, Shirou Matsumoto, Rieko Sakamoto, Fumio Endo, Kimitoshi Nakamura

(Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan)

Med Sci Case Rep 2016; 3:108-111

DOI: 10.12659/MSCR.901499


BACKGROUND: Patients with phenylketonuria (PKU) present with hyperphenylalaninemia and hypotyrosinemia due to a deficiency of phenylalanine hydroxylase. There are no reports of patients with PKU who have survived long-term and subsequently developed uterine corpus cancer. We encountered the case of a patient with PKU who died of advanced uterine corpus cancer with systemic metastasis one year after cancer detection and operation, and we discuss the relationship between PKU and uterine corpus cancer.
CASE REPORT: A 45-year-old woman with PKU presenting with irregular vaginal bleeding was diagnosed with uterine corpus cancer (mixed endometrioid adenocarcinoma G2 and serous adenocarcinoma). Although metastasis to the lymph nodes and other organs was not recognized at the time of the operation, she developed advanced cancer with systemic metastasis one year postoperatively. She received terminal care and died at the age of 47 years.
CONCLUSIONS: The number of patients with PKU experiencing good long-term outcomes has increased since newborn mass screening was introduced. However, it is currently contentious whether the pathogenesis of PKU affects the development and/or progression of endometrial cancer. In the future, with increasing long-term survival for patients with PKU, the relationship between PKU and cancer can be more fully examined.

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
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