A Case of Uterine Adenosarcoma and Colonic Endometriosis Masquerading as Inflammatory Bowel Disease

Abstract

Background

Endometriosis is a prevalent gynecological condition that primarily affects women of reproductive age. When the gastrointestinal system is involved, it can lead to bowel dysfunction and pose diagnostic challenges.

Aims

To present a rare case of gastrointestinal endometriosis with concurrent uterine adenosarcoma, highlighting the diagnostic complexities and therapeutic considerations.

Methods

A 42-year-old female presented with refractory bloody diarrhea, abdominal pain, and significant unintentional weight loss for several months. Initial investigations, including stool studies and inflammatory markers, ruled out infectious and common inflammatory causes. Endoscopic evaluation revealed multiple polypoid lesions, prompting further imaging. Magnetic resonance enterography (MRE) identified a uterine mass with suspected extrauterine involvement and a rectal nodule, raising concerns for malignancy or extensive gastrointestinal endometriosis. The patient underwent surgical management, including total hysterectomy, bilateral salpingo-oophorectomy, and lower anterior resection.

Results

Histopathological analysis confirmed the coexistence of uterine adenosarcoma and rectal endometriosis. The patient fully recovered after surgery without complications. At her 12-month follow-up, she remained asymptomatic, with no evidence of recurrence or residual disease.

Conclusions

This case underscores the diagnostic and therapeutic challenges of gastrointestinal endometriosis, particularly in the presence of coexisting malignancy. A multidisciplinary approach is essential for early recognition and prompt intervention, which are crucial for improving patient outcomes and quality of life.

A 42-year-old woman presented with a month-long history of mucoid bloody diarrhea, weight loss, and worsening bowel symptoms. Despite empirical treatment, her condition deteriorated, prompting further evaluation. Initial tests ruled out infections, and colonoscopy showed no active inflammation. However, magnetic resonance enterography (MRE) revealed an 8 cm uterine mass suspicious for malignancy and a rectal nodule suggesting endometriosis [1, 2] (Fig. 1). Elevated CA-125 and CA19-9 supported these findings. She underwent hysterectomy, bilateral salpingo-oophorectomy, and rectal tumor resection (Fig. 2). Pathology confirmed uterine adenosarcoma (FIGO stage I) [3] and rectal endometriosis (Fig. 3). Post-surgery, she remained disease-free for 12 months, with complete resolution of symptoms.

Fig. 1.

Magnetic resonance enterography findings. A Axial half-Fourier acquisition single-shot turbo spin-echo (HASTE) image shows ill-defined T2-hypointensity lesions of the uterus, suggestive of adenomyosis (white arrowheads). At the posterior aspect of uterus, there is a large irregular mass with heterogeneous T2-hyperintensity (arrows), suspicious for malignancy. In addition, there is a T2-hypointense submucosal nodule (2.3 cm in size) at the anterior wall of the rectum, suggestive of endometriosis (black arrowhead). B Coronal HASTE image shows the irregular T2-hyperintense uterine mass (arrows). C Axial diffusion-weighted image shows focal high signal intensity of the mass (arrow), suggestive of increased cellularity. D Axial post-contrast T1-weighted image shows heterogeneous enhancement of the uterine mass (arrows) with focal non-enhancing necrotic areas. The rectal nodule (arrowhead) shows mild enhancement

Fig. 2.

Operative findings and the excised specimen. A On entry of abdomen, severe adhesion of descending colon on posterior uterine wall noted. The uterine corpus showed extensive adenomyosis. B Rectal endometriosis with full penetration into the mucosa

Fig. 3.

Representative images of H&E, IHC staining and FISH analysis in surgical specimens. A The uterus exhibited extensive adenomyosis with endometrial glands and stroma surrounded by hypertrophic smooth muscle cells. B In adenomyosis without atypical changes (B1), stromal cells showed focal p16 (B2) but no CDK4 protein expression (B3). Foci of atypical stromal cells with pleomorphic hyperchromatic nuclei arise in and spreading along adenomyosis (B4). These atypical stromal cells are diffusely positive for p16 (B5) and CDK4 (B6) expression. C Evident necrosis in atypical stromal cells with focally but strongly MDM2 protein expression (C1, C2). Fluorescent in situ hybridization showed MDM2 and CDK4 amplification consistent with the diagnosis of adenosarcoma (C3: MDM2-red signals, CEP12-green signals, C4: 3' DDIT3-orange signals, 5' DDIT3-green signals). D Endometriosis in rectal tumor (inset figure) comprised bland-appearing stromal cells (H&E)

Author Contributions

Conceptualization, data curation, formal analysis, methodology: Lin CJ. Project administration: Wei SC. Resources: Tai YJ, Chiang YC, Su TH, Shih IL, Kuo KT, Wei SC. Supervision: Kuo KT, Wei SC. Visualization: Tai YJ, Chiang YC, Su TH. Writing—original draft: Lin CJ, Tai YJ. Writing—review & editing: all authors. Approval of final manuscript: all authors.

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

Data Availability

No datasets were generated or analyzed during the current study.

Declarations

Conflict of interest

The authors declare no competing interests.