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

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.

Case report: A surgically treated case of diaphragmatic clear cell carcinoma without relation to endometriosis.

INTRODUCTION AND IMPORTANCE: Diaphragmatic tumor is a rare neoplastic disease. Only three reports have revealed diaphragmatic primary clear cell carcinoma. On the other hand, secondary membranous nephropathy is sometimes triggered by the carcinoma. We describe a case of primary diaphragmatic clear cell carcinoma without relation to endometriosis or ovarian malignancies, and secondary membranous nephropathy was triggered by diaphragmatic primary clear cell carcinoma. CASE PRESENTATION: A 67-year-old woman was found to have membranous nephropathy due to examination for renal dysfunction. A rare diaphragmatic tumor was identified on CT scan for rule out secondary membranous nephropathy. She had underwent resection of the right diaphragm tumor and reconstruction with expanded polyterafluoroethylene (e-PTFE). CLINICAL DISCUSSION: Pathological examination revealed the presence of clear cells with papillary arrangement and no findings of the endometriosis. Immunohistochemistry revealed that the tumor was positive for CK7, p53, and HNF-1-beta. And there had been no evidence of ovarian malignancies. A diagnosed of clear cell carcinoma of the right diaphragm without relation to endometriosis or ovarian malignancies was made. After resection of the tumor, it was revealed that her renal function was improvement. CONCLUSION: This is the first report of diaphragmatic clear cell carcinoma without relation to endometriosis or ovarian malignancies that caused secondary membranous nephropathy. One year after the resection of the tumor, she is being followed up and has shown no signs of recurrence.

Three-dimensional image simulation of primary diaphragmatic hemangioma: A case report.

BACKGROUND: Fewer than 200 cases of diaphragmatic tumors have been reported in the past century. Diaphragmatic hemangiomas are extremely rare. Only nine cases have been reported in English literature to date. We report a case of cavernous hemangioma arising from the diaphragm. Pre-operative three-dimensional (3D) simulation and minimal invasive thoracoscopic excision were performed successfully, and we describe the radiologic findings and the surgical procedure in the following article. CASE SUMMARY: A 40-year-old man was referred for further examination of a mass over the right basal lung without specific symptoms. Contrast-enhanced computed tomography revealed a poorly-enhanced lesion in the right basal lung, abutting to the diaphragm, measuring 3.1 cm × 1.5 cm in size. The mediastinum showed a clear appearance without evidence of abnormal mass or lymphadenopathy. A preoperative 3D image was reconstructed, which revealed a diaphragmatic lesion. Video-assisted thoracic surgery was performed, and a red papillary tumor was found, originating from the right diaphragm. The tumor was resected, and the pathological diagnosis was cavernous hemangioma. CONCLUSION: In this rare case of diaphragmatic hemangioma, 3D image simulation was helpful for the preoperative evaluation and surgical decision making.

Primary liposarcoma of the diaphragm: a rare intra-abdominal mass.

Primary malignant tumors of the diaphragm are rare, and primary liposarcoma of the diaphragm is extremely rare. The role of imaging is description of the anatomic relationships of the tumor as well as a suggestion of histologic diagnosis based on the presence of fatty and/or nonfatty components.

Rare diaphragmatic tumor mimicking liver mass.

Primary tumors of the diaphragm are quite rare. About 150 cases have been reported in the literature. Fibrosarcomas are the commonest malignant neoplasms of the diaphragm; however, only a few (less than 20) cases have been reported to date. We present the case of an extremely rare tumor of the diaphragm mimicking a liver mass. The patient, a young 28-year-old woman, presented with an 8-month-history of mildly progressive upper abdominal pain and early fullness after meals. Computed tomography scan of the abdomen revealed a mass located in the region of the left lobe of the liver with non visualized left lobe and partial vascular supply of the mass from the left hepatic artery. The tumor was also seen to draw its vascularity from bilateral internal mammary arteries. Surgical excision and hepatectomy was planned, keeping in mind the diagnosis of an atypical left hepatic mass. Laparotomy revealed a left diaphragmatic tumor growing caudally into the upper abdomen, compressing and splaying the liver along the left medial surface where the tumor was virtually adherent to it. Successful excision of the mass and subsequent histopathological and immunochemistry examination of the specimen revealed low grade fibromyxoid sarcoma of the diaphragm. This case highlights the unusual presentation of a diaphragmatic mesenchymal tumor and how it can be mistaken as an atypical liver mass. It also emphasizes the tumoral vascular supply as an indicator of its organ of origin.

Laparoscopic phrenectomy for a diaphragmatic neurilemmoma.

Diaphragmatic neurilemmoma (schwannoma) is an extremely rare tumor that is often discovered incidentally. Even when diagnosed, patients are commonly advised only to attend regular follow-up appointments as conventional tumorectomy is enormously invasive and confers relatively few benefits. Here, we report a unique case of a diaphragmatic neurilemmoma with concomitant symptomatic cholecystolithiasis, who was treated successfully by pure laparoscopy. The entire operation lasted 65 min, and patient was discharged uneventfully on the 3(rd) post-operative day. The follow-up for 29 months has shown with no recurrence or symptoms.