Primary diaphragmatic clear cell carcinoma associated with endometriosis: A case report and literature review

Matsuki, Mitsuru; Numoto, Isao; Hamakawa, Takefumi; Ishii, Kazunari; Chikugo, Takaaki

doi:10.1016/j.gore.2021.100733

Cited by 5 publications

(5 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, endometrioid carcinoma in the diaphragm associated with endometriosis has also been reported only in two cases (21,22). Matsuki et al reviewed cases of CCC in the peritoneum and diaphragm, and reported that 40% (6/15) of the patients had a history of, or currently had, endometriosis or adenomyosis (1). In 1925, Sampson defined three criteria for the diagnosis of malignant transformation of endometriosis: i) Demonstration of endometriosis within the tumor; ii) absence of other primary tumors; and iii) histological appearance consistent with an endometrial origin (23).…”

Section: Discussionmentioning

confidence: 99%

“…Clear cell carcinoma (CCC) in the diaphragm is extremely rare and, to the best of our knowledge, only four cases have been reported in the worldwide literature (1)(2)(3)(4). The origin of CCC is reported to be associated with malignant transformation of extrapelvic endometriosis (1,2). Endometriosis is defined as the histological presence of endometrial glands and stroma outside the uterine cavity (5).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report

Ueda,

Watanabe,

Momma

et al. 2024

Mol Clin Oncol

View full text Add to dashboard Cite

Clear cell carcinoma (CCC) of the diaphragm is rare, with an origin that is reported to be associated with malignant transformation of extraperitoneal endometriosis. Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by germline pathogenic variants in one of the DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2. Women with LS have a significantly increased lifetime risk of endometrial and ovarian cancer. CCC is a common histology of endometriosis-and LS-associated malignancy. The present study describes the case of a 51-year-old woman with an intra-abdominal mass found during a routine physical examination. The patient had undergone total hysterectomy and bilateral adnexectomy for atypical endometrial hyperplasia (AEH) and ovarian endometriosis, respectively, 3 years previously. Enhanced computed tomography showed a mass on the surface of the liver. Laparoscopic examination of the abdominal cavity revealed a tumor on the underside of the right diaphragm, which was then surgically excised. Pathological examination of the excised tumor, along with immunohistochemistry, led to a diagnosis of CCC. Since LS was suspected due to the genetic family history of the patient, microsatellite instability analysis was performed on the diaphragmatic tumor, and the results were positive. Immunohistochemistry was performed for MMR proteins in AEH and CCC cells, both of which revealed loss of MSH2 and MSH6 expression. Following detailed genetic counseling, genetic testing of MMR genes was performed, revealing a germline pathogenic variant in MSH2 (c.1000C>T, p.Gln344*), thus confirming the diagnosis of LS. To the best of our knowledge, this is the first case report of concurrent diaphragmatic CCC and LS. Patients with LS and endometriosis are at risk of developing ovarian cancer or intra-abdominal malignant tumors. In addition, immunohistochemistry screening for MMR proteins should be considered in patients with AEH and a family history of LS-related cancer, to enable early clinical intervention in cases of endometrial cancer.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report

Ueda,

Watanabe,

Momma

et al. 2024

Mol Clin Oncol

View full text Add to dashboard Cite

show abstract

“…[9] HNF-1β has a high specific specificity for the diagnosis of ovarian CCC. [2] The joint applications of immunohistochemical markers WT-1, Napsina, and HNF1-β have high specificity in distinguishing high-grade serous carcinoma and CCC. WT-1negative Napsina, and HNF1-β positive indicate CCC.…”

Section: Discussionmentioning

confidence: 99%

“…Women's reproductive tract clear cell carcinoma (CCC) can occur in the ovarian, endometrium, cervical-vaginal area, and other parts of the pelvic cavity, such as the peritoneum and diaphragm. [1,2] Yet, the CCC in the vaginal rectal septum is extremely rare, [3] and, so far, only 2 cases have been reported. [3,4] Tumor resection combined with chemotherapy is considered the main treatment for CCC in the vaginal rectal septum.…”

Section: Introductionmentioning

confidence: 99%

Primary clear cell adenocarcinoma of the rectovaginal septum: A rare case report

Zhou

Duan

et al. 2023

Medicine

View full text Add to dashboard Cite

Rationale: Primary clear cell adenocarcinoma of the rectovaginal septum is a very rare event. Patient Concerns: We reported a case of a 55-year-old woman diagnosed with a lump in the vaginal rectal septum after undergoing hysterectomy with bilateral salpingo-oophorectomy in 2017, who was admitted to our department due to vaginal bleeding. Magnetic resonance imaging of the pelvis indicated the vaginal rectal space cystic and solid mass about 110 mm × 100 mm × 140 mm in size. Diagnosis: The pathological diagnosis of postoperative was clear cell adenocarcinoma. Interventions: Abdominal laparotomy showed a solid block of the vaginal rectal septum. Surgery was performed to reduce the tumor. Outcomes: This patient received 8 courses of combined chemotherapy courses after surgery for the residual lesion and achieved a complete response. Lessons: Due to the rare observation of the growth pattern, the cell morphology and immune phenotype are not specific, and clinical and pathological diagnosis is difficult. Introducing the diagnosis and treatment of this case and reviewing the literature provide a relevant reference for clinicians identification and diagnosis and treatment of this rare case.

show abstract

“…Microscopically, the ovarian findings can be one of the following: ovaries should not have evidence of disease, ovarian surface can be involved but without evidence of cortical invasion, and tumor may involve the ovarian surface and cortex but any tumor is less than 5 × 5 mm , and lastly, microscopically the tumor should be predominantly of a serous cell type that is similar or identical to ovarian serous papillary adenocarcinoma of any grade 3 . Seventeen cases of primary peritoneal carcinoma of clear cell type have been reported in the English language literature ( online supplemental table 1 5 6). They are typically high-grade tumors with poor prognosis.…”

Section: Case Presentationmentioning

confidence: 99%

Primary peritoneal clear cell carcinoma

Γιαννακόπουλος¹,

Henning

Svensson

et al. 2022

International Journal of Gynecological Cancer

View full text Add to dashboard Cite

Primary diaphragmatic clear cell carcinoma associated with endometriosis: A case report and literature review

Abstract: Highlights Diaphragmatic clear cell carcinoma (CCC) from endometriosis is extremely rare. Diaphragmatic CCC from endometriosis shows cystic mass with solid component. MR and serial images are useful in the diagnosis of diaphragmatic CCCs.

Cited by 5 publications

References 14 publications

Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report

Diaphragmatic clear cell carcinoma with Lynch syndrome after surgery for atypical endometrial hyperplasia and ovarian endometriosis: A case report

Primary clear cell adenocarcinoma of the rectovaginal septum: A rare case report

Primary peritoneal clear cell carcinoma

Contact Info

Product

Resources

About