Clinicopathological features of endometriosis‑associated adenocarcinoma of the rectum: A report of two cases

Zhao,Ke; Hu,Min; Li,Xiaowen; Yang,Runfeng; Huang,Yi

doi:10.3892/ol.2024.14656

Clinicopathological features of endometriosis‑associated adenocarcinoma of the rectum: A report of two cases

Authors:
- Ke Zhao
- Min Hu
- Xiaowen Li
- Runfeng Yang
- Yi Huang
View Affiliations

Affiliations: Department of Gynecologic Oncology, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430079, P.R. China, Department of Pathology, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430079, P.R. China
Published online on: August 30, 2024 https://doi.org/10.3892/ol.2024.14656
Article Number: 523
Copyright: © Zhao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Endometriosis‑associated adenocarcinoma of the rectum is rare and is usually misdiagnosed as colorectal carcinoma or other gynecological tumors. In the current report, the clinicopathological features of endometriosis‑associated adenocarcinoma of the rectum in 2 patients were retrospectively analyzed and a literature review regarding this rare malignancy is presented. Case 1, a 49‑year‑old postmenopausal female patient, was admitted to Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology (Wuhan, China) due to a pelvic mass. Pelvic MRI revealed a 4.5x3.7‑cm mass in the rectal wall, which severely adhered to the uterine wall. Microscopically, moderately differentiated glandular adenocarcinoma diffusely extended throughout all intestinal wall layers. Adenomyosis was found in the uterine body adherent to the rectum. Case 2, a 38‑year‑old reproductive female patient, presented with hematochezia. Histopathology of the resected tumor demonstrated benign endometriosis foci and atypical hyperplasia glands contiguous with endometrioid carcinoma invading the intestinal wall, and no other primary tumor sites were found, which satisfied the criteria for the diagnosis of malignant transformation of endometriosis of the rectum. Immunohistochemical (IHC) staining of both tumors revealed a Müllerian origin but not an intestinal origin. Furthermore, next‑generation sequencing detected mutations of the BRCA1 (c.329dup), KRAS (c.35G>T), PIK3CA (c.3140A>G) and PTEN (c.750_751del) genes, and that microsatellite instability was high in case 1. In conclusion, endometriosis‑associated adenocarcinoma of the rectum is a rare malignant tumor that should be distinguished from colorectal carcinoma for optimal treatment. Surgery and pathologic examination with IHC staining, even with molecular analysis, are essential for the final diagnosis. Primary cytoreductive surgery with resection of all macroscopic detectable lesions should be performed whenever possible. More prospective, multicenter, large‑scale trials are required to examine the regimens and therapeutic value of adjuvant chemotherapy or radiology.

View Figures

View References

1	Simoens S, Dunselman G, Dirksen C, Hummelshoj L, Bokor A, Brandes I, Brodszky V, Canis M, Colombo GL, DeLeire T, et al: The burden of endometriosis: Costs and quality of life of women with endometriosis and treated in referral centres. Hum Reprod. 27:1292–1299. 2012. View Article : Google Scholar : PubMed/NCBI
2	Taylor HS, Kotlyar AM and Flores VA: Endometriosis is a chronic systemic disease: Clinical challenges and novel innovations. Lancet. 397:839–852. 2021. View Article : Google Scholar : PubMed/NCBI
3	Stern RC, Dash R, Bentley RC, Snyder MJ, Haney AF and Robboy SJ: Malignancy in endometriosis: Frequency and comparison of ovarian and extraovarian types. Int J Gynecol Pathol. 20:133–139. 2001. View Article : Google Scholar : PubMed/NCBI
4	Pearce CL, Templeman C, Rossing MA, Lee A, Near AM, Webb PM, Nagle CM, Doherty JA, Cushing-Haugen KL, Wicklund KG, et al: Association between endometriosis and risk of histological subtypes of ovarian cancer: A pooled analysis of case-control studies. Lancet Oncol. 13:385–394. 2012. View Article : Google Scholar : PubMed/NCBI
5	Benoit L, Arnould L, Cheynel N, Diane B, Causeret S, Machado A, Collin F, Fraisse J and Cuisenier J: Malignant extraovarian endometriosis: A review. Eur J Surg Oncol. 32:6–11. 2006. View Article : Google Scholar : PubMed/NCBI
6	Sampson JA: Endometrial carcinoma of the ovary, arising in endometrial tissue of that organ. Arch Surg. 10:1–72. 1925. View Article : Google Scholar
7	Scott RB: Malignant changes in endometriosis. Obstet Gynecol. 2:283–289. 1953.PubMed/NCBI
8	Gadducci A and Zannoni GF: Endometriosis-associated extraovarian malignancies: A challenging question for the clinician and the pathologist. Anticancer Res. 40:2429–2438. 2020. View Article : Google Scholar : PubMed/NCBI
9	Thomas EJ and Campbell IG: Molecular genetic defects in endometriosis. Gynecol Obstet Invest. 50 (Suppl 1):S44–S50. 2000. View Article : Google Scholar
10	Sapalidis K, Machairiotis N, Zarogoulidis P, Vasilakaki S, Sardeli C, Koimtzis G, Pavlidis E, Katsaounis A, Giannakidis D, Michalopoulos N, et al: Genes' interactions: A major contributor to the malignant transformation of endometriosis. Int J Mol Sci. 20:18422019. View Article : Google Scholar : PubMed/NCBI
11	Zhao K, Zhao T, Yang R, Liu J and Hu M: Peroxiredoxin 2 as a potential prognostic biomarker associated with angiogenesis in cervical squamous cell cancer. Oncol Lett. 28:3282024. View Article : Google Scholar : PubMed/NCBI
12	Del Vecchio F, Mastroiaco V, Di Marco A, Compagnoni C, Capece D, Zazzeroni F, Capalbo C, Alesse E and Tessitore A: Next-generation sequencing: Recent applications to the analysis of colorectal cancer. J Transl Med. 15:2462017. View Article : Google Scholar : PubMed/NCBI
13	Ponz de Leon M and Di Gregorio C: Pathology of colorectal cancer. Dig Liver Dis. 33:372–388. 2001. View Article : Google Scholar : PubMed/NCBI
14	Kir G, Gurbuz A, Karateke A and Kir M: Clinicopathologic and immunohistochemical profile of ovarian metastases from colorectal carcinoma. World J Gastrointest Surg. 2:109–116. 2010. View Article : Google Scholar : PubMed/NCBI
15	Arakawa T, Fukuda S, Hirata T, Neriishi K, Wang Y, Takeuchi A, Saeki A, Harada M, Hirota Y, Matsumoto T, et al: PAX8: A highly sensitive marker for the glands in extragenital endometriosis. Reprod Sci. 27:1580–1586. 2020. View Article : Google Scholar : PubMed/NCBI
16	Smith D, Stewart CJR, Clarke EM, Lose F, Davies C, Armes J, Obermair A, Brennan D, Webb PM, Nagle CM and Spurdle AB: ER and PR expression and survival after endometrial cancer. Gynecol Oncol. 148:258–266. 2018. View Article : Google Scholar : PubMed/NCBI
17	Werling RW, Yaziji H, Bacchi CE and Gown AM: CDX2, a highly sensitive and specific marker of adenocarcinomas of intestinal origin: An immunohistochemical survey of 476 primary and metastatic carcinomas. Am J Surg Pathol. 27:303–310. 2003. View Article : Google Scholar : PubMed/NCBI
18	Magnusson K, de Wit M, Brennan DJ, Johnson LB, McGee SF, Lundberg E, Naicker K, Klinger R, Kampf C, Asplund A, et al: SATB2 in combination with cytokeratin 20 identifies over 95% of all colorectal carcinomas. Am J Surg Pathol. 35:937–948. 2011. View Article : Google Scholar : PubMed/NCBI
19	Lott JV, Rubin RJ, Salvati EP and Salazar GH: Endometrioid carcinoma of the rectum arising in endometriosis: Report of a case. Dis Colon Rectum. 21:56–60. 1978. View Article : Google Scholar : PubMed/NCBI
20	Jones KD, Owen E, Berresford A and Sutton C: Endometrial adenocarcinoma arising from endometriosis of the rectosigmoid colon. Gynecol Oncol. 86:220–222. 2002. View Article : Google Scholar : PubMed/NCBI
21	Takeuchi K, Yamanaka Y, Hamana S, Ohara N and Maruo T: Invasive adenocarcinoma arising from uterine adenomyosis involving the rectosigmoid colon. Int J Gynecol Cancer. 14:1004–1006. 2004. View Article : Google Scholar : PubMed/NCBI
22	Kobayashi S, Sasaki M, Goto T, Asakage N, Sekine M, Suzuki T, Tsukada K, Yamasaki S and Ukawa S: Endometrioid adenocarcinoma arising from endometriosis of the rectosigmoid. Dig Endos. 22:59–63. 2010. View Article : Google Scholar
23	García-Marín JA, Pellicer-Franco EM, Soria-Aledo V, Mengual-Ballester M, Valero-Navarro G and Aguayo-Albasini JL: Malignant degeneration of rectal endometriosis. Rev Esp Enferm Dig. 107:761–763. 2015.PubMed/NCBI
24	Palla VV, Karaolanis G, Bliona T, Katafigiotis I, Anastasiou I and Hassiakos D: Endometrioid adenocarcinoma arising from colon endometriosis. SAGE Open Med Case Rep. 5:2050313X177452042017.PubMed/NCBI
25	Li N, Zhou W, Zhao L and Zhou J: Endometriosis-associated recto-sigmoid cancer: A case report. BMC Cancer. 18:9052018. View Article : Google Scholar : PubMed/NCBI
26	Yang H, Gu JJ, Qi Y, Zhao W and Wang XL: Endometrioid adenocarcinoma of the rectovaginal septum with invasion of the rectum: A case report and review of literature. World J Surg Oncol. 17:2062019. View Article : Google Scholar : PubMed/NCBI
27	Li B, Wang Y, Wang Y, Li S and Liu K: Deep infiltrating endometriosis malignant invasion of cervical wall and rectal wall with lynch syndrome: A rare case report and review of literature. Front Oncol. 12:8322282022. View Article : Google Scholar : PubMed/NCBI
28	Ulrich U, Rhiem K, Kaminski M, Wardelmann E, Trog D, Valter M and Richter ON: Parametrial and rectovaginal adenocarcinoma arising from endometriosis. Int J Gynecol Cancer. 15:1206–1209. 2005. View Article : Google Scholar : PubMed/NCBI
29	Knisely A, Huang Y, Li Y, Prabhu VS and Wright JD: Adjuvant and first line chemotherapy use for endometrial cancer. Gynecol Oncol Rep. 41:1010022022. View Article : Google Scholar : PubMed/NCBI