Abstract
BackgroundExtragonadal endometriosis is a rare condition, and its disease manifestation and long-term prognosis have not been elucidated. We report an extragonadal endometriosis case controlled by drug therapy for 14 years with analysis of the sex hormone receptor expression and PIK3CA mutation.Case presentationThe patient was diagnosed with bladder endometriosis at age of 30 years, and underwent bilateral nephrostomy and GnRHa therapy with add-back therapy. The patient was switched to dienogest therapy at age 35 and had hematuria and bloody stools at age 38. PET-CT revealed a 6-cm mass in the bladder with fluorodeoxyglucose accumulation and the diagnosis of endometriosis in the bladder, sigmoid colon, and cecum was confirmed after the biopsy result. The lesion’s tubular structures were positive for the estrogen receptor, but only 30% positive for the progesterone receptor, and the H1047R mutation in PIK3CA was found in tubular structures of the bladder lesion. GnRHa therapy caused the tumors to shrink.ConclusionDecreased progesterone receptor expression and oncogenic mutations may influence the course of less common and rare site endometriosis. Rare site endometriosis often requires long-term hormone therapy, and management should be tailored to the patient's life stage, keeping in mind complications, such as decreased bone density.
Highlights
ConclusionDecreased progesterone receptor expression and oncogenic mutations may influence the course of less common and rare site endometriosis
Extragonadal endometriosis is a rare condition, and its disease manifestation and long-term prognosis have not been elucidated
Endometriosis occurs in 10% of sexually active women, 50% of infertile women, and 70% of women suffering from pelvic pain, and requires long-term management [1]
Summary
The present case report suggests that when endometriosis in the bladder or intestine diagnosed; (i) FDG accumulation on PET-CT should be investigated for visual differentiation from malignancy, (ii) ER and PGR expression on biopsy sample is useful to determine the course of treatment, and (iii) oncogenic mutations, such as PIK3CA mutation affect proliferation.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
