Deep Infiltrating Endometriosis Malignant Invasion of Cervical Wall and Rectal Wall With Lynch Syndrome： A Rare Case Report and Review of Literature

Abstract

BackgroundMalignant transformation of deep infiltrating endometriosis (DIE) invading the cervix and rectum is quite rare, especially in patients combined with Lynch syndrome (LS). We report a rare case of a 49-year-old perimenopausal woman with endometrioid carcinoma arising from the pouch of Douglas, invading the cervix and rectum 1 year after a unilateral salpingo-oophorectomy treatment for ovarian endometriosis. The genetic testing of the patient showed germline mutations in MSH2, which combined with the special family history of colorectal cancer of the patient, was also thought to be associated with LS. We have analyzed the reported cases of DIE malignant transformation over the last 10 years, and reviewed the relevant literature, in order to strengthen the clinical management of patients with endometriosis, particularly patients with DIE, and reveal a possible correlation between malignant transformation of endometriosis and LS.Case PresentationA 49-year-old perimenopausal woman presented with hypogastralgia, diarrhea, and intermittent fever for more than 1 month. A Transvaginal ultrasound (TVS) showed a cervix isthmus mass, and a magnetic resonance imaging (MRI) showed a mass in pouch of Douglas with high suspicion of malignancy, possibly invading the anterior wall of the rectum. Prior to surgery, the patient performed the ultrasound guided pelvic mass biopsy through the vagina, and the pathology of the mass showed endometrioid carcinoma. The patient received a gynecological–surgical laparotomy and enterostomy, and a histopathology revealed endometrioid carcinoma infiltrating the cervical wall and rectal wall. In the family genetic history of the patient, her mother and two sisters suffered from colorectal cancer, so lesion tissue and blood were taken for genetic testing, which showed a germline mutation in MSH2, with LS being considered. After the surgical treatment, the patient received six courses of paclitaxel–carboplatin chemotherapy. During the course of treatment, bone marrow suppression occurred, but was healed after symptomatic treatment. To date, the patient is generally in good health, and imaging examination showed no evidence of recurrence.ConclusionThe risk of malignant transformation of endometriosis is increased in perimenopause and postmenopause, as DIE is a rare malignant transformation of endometriosis. DIE can invade other adjacent organs and cause poor prognosis, thus, comprehensive gynecological–surgical treatment should be necessary. In addition, if histopathology showed endometrioid carcinoma, the possibility of LS should be considered, and if necessary, immunohistochemical staining and gene detection should be improved to provide follow-up targeted therapy and immunotherapy.

At what age endometriosis-associated ovarian cancer is diagnosed? The implications for women in the reproductive age

“…Nevertheless, the available evidence supports EAOC rise mainly from endometrioma ( 1 ). Malignant transformation of extra-gonadal sites, as in superficial or deep endometriosis, is most unusual ( 76 – 78 ). In a recent narrative review of cases with DIE malignant transformation, only eight patients were collected in ten years ( 78 ).…”

Metastasis of endometrial adenocarcinoma masquerading as a primary rectal cancer: A rare case report with literature review

“…As a hereditary nonpolyposis colorectal cancer syndrome, LS is an autosomal dominant disease. [9] The pathogenesis of LS is the mutation of mismatch repair gene, including MLH1, MSH2, MSH6, and PMS2. Duplicated coding gene fragment or noncoding gene fragment may mutate when the function of mismatch repair genes are lost, resulting in MSI.…”

“…Duplicated coding gene fragment or noncoding gene fragment may mutate when the function of mismatch repair genes are lost, resulting in MSI. [9] In consideration of the negative expression of MLH1,PMS2, LS was not excluded in our case. Unfortunately, the gene testing was not carried out due to the financially problem.…”

An exceptional case of degenerative endometriosis of the uterine torus

“…Ferrari et al 14 reported a case of clear cell carcinoma in a parietal endometriosis lesion (post‐cesarean section and transverse laparotomy), while Chen et al 15 reported two cases of high‐grade serous cancer (HGSC) in an endometriosis of the utero‐sacral ligament, followed by Johnson et al 16 and Song et al, 17 each of whom reported a case of HGSC from in a rectal endometriosis. If we add the cases of cervical and rectal degeneration associated with Lynch syndrome, 18 and vaginal degeneration associated with endometrial cancer, 19 , 20 there are less than 10 cases of degeneration described in the literature (Table 1 ).…”