Huge retroperitoneal epithelioid angiomyolipoma: A case report.
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ABSTRACT:
SUBMITTER: Tsai HY
PROVIDER: S-EPMC5737944 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Retroperitoneal cystic mass is a rare surgical condition that is often misdiagnosed preoperatively. Here, we report a case of a 56-year-old woman who presented with abdominal swelling for a 1-year duration, which was associated with lower abdominal pain for 6 months. Her abdominal radiograph showed a huge radiopaque lesion, and contrast-enhanced computed tomography scan of the abdomen reported it as a left ovarian serous cystadenoma causing local mass effect to the left ureter leading to mild left hydronephrosis. She underwent exploratory laparotomy and noted there was a huge retroperitoneal cystic mass. The histopathological assessment finding was consistent with a benign retroperitoneal cyst. This case report aims to share the rare case of primary retroperitoneal lesions, which can cause a diagnostic challenge preoperatively to all clinicians despite advanced achievement in medical imaging.
| S-EPMC7642373 | biostudies-literature
Project description:Hepatic epithelioid angiomyolipoma (HEAML) is a rare tumour of mesenchymal tissue with a malignant tendency. Occurring most frequently in women, the relative incidence in men and women, according to incomplete statistics, is approximately 1:5. In rare cases, disease occurrence and development is hidden. Lesions are generally discovered as chance findings by patients; abdominal pain is the first symptom, and imaging has no specificity in diagnosing the disease. Therefore, great difficulties exist in the diagnosis and treatment of HEAML. Here, the case of a 51-year-old female patient with a history of hepatitis B, and abdominal pain over 8 months as the initial symptom, is described. The patient was found to have multiple intrahepatic angiomyolipoma. Due to the small and scattered foci, complete resection was impossible, and because of her history of hepatitis B, conservative treatment was undertaken, with the patient undergoing regular follow-up. When hepatic cell carcinoma could not be excluded, the patient was treated with transcatheter arterial chemoembolization. No tumour neogenesis or metastasis was detected at the 1-year follow-up.
| S-EPMC9936533 | biostudies-literature
Project description:IntroductionRetroperitoneal cystic lesions are uncommon heterogeneous clinical entities with no definite incidence. Their clinical presentations are different and their diagnosis is challenging. The management necessitates complete surgical excision, usually via laparotomy. Recently, laparoscopic approach is being increasingly used.Case presentationA 29-year-old female patient was referred for an incidentally-discovered huge retroperitoneal cyst. Imaging studies revealed a retroperitoneal cyst, measuring 13 * 11?cm. Diagnostic laparoscopy showed a retroperitoneal cyst displacing the small bowel and the right colon to the left side. The peritoneal covering was dissected from the cyst with caution not to cause cyst rupture. The cyst was removed partially using Endobag, then aspiration of its content to facilitate its delivery. The patient had a smooth uneventful postoperative course.DiscussionThe retroperitoneal space is large, expandable space which enables retroperitoneal cystic lesions to grow asymptomatic. CT scan remains the best imaging modality. Aspiration of its content is not routinely done as its sensitivity and specificity has been reported low. Moreover, it carries the risk of leakage of the cyst content into the peritoneal space. Open surgical complete excision is the traditional management and remains of choice. However, laparoscopic management can be tried with caution not to cause content spillage. Intraoperatively, controlled aspiration of the cyst helps in its retrieval.ConclusionPrimary retoperitoneal mucinous cystadenoma is a rare clinical entity that is usually incidentally discovered. Laparoscopic excision is safe and feasible if done by an expert laparoscopic surgeon. Care should always be taken not to cause spillage of its content.
| S-EPMC6698316 | biostudies-literature
Project description:Epithelioid angiomyolipoma (EAML) is a rare type of mesenchymal angiomyolipoma with potential malignancy in the kidney that can cause lymph node metastases, local recurrence, and distant metastases. Herein, we describe a case of EAML in the right kidney of a 51-year-old man who was admitted to the hospital with a right abdominal mass. Computed tomography revealed a heterogeneously enhanced mass with blurred margins, which was considered a malignant tumor. A radical nephrectomy was then performed. Two years later, the patient developed liver metastases from EAML and was administered sintilimab combined with bevacizumab. The patient survived after 6 months of follow-up. Histologically, the tumors showed clear boundaries and no obvious capsules. The tumor tissue mainly consisted of epithelioid tumor cells, thick-walled blood vessels, and a small amount of adipose tissue. Tumor cells with lipid vacuoles and acinar areas were large, round, polygonal, eosinophilic, or transparent in the cytoplasm. The enlarged and hyperchromatic nuclei were accompanied by distinct nucleoli and pathological mitosis. These histopathological findings resembled those of renal cell carcinoma, and immunohistochemical analysis was performed. The tumor cells were diffusely positive for HMB45, Melan-A, CK20, vimentin antibodies, and TFE3, suggesting that the tumor originated from perivascular epithelioid cells, excluding renal cell carcinoma. The Ki-67 index was 10%. These histopathological features were observed in liver mass puncture tissues. We also summarized 46 cases of EAML with distant metastasis and explored the clinicopathological features of EAML to improve the treatment of the disease. EAML is often ignored in the clinical setting, leading to metastasis and recurrence. Therefore, EAMLs require long-term follow-up, and timely detection of recurrent disease can improve the prognosis.
| S-EPMC10477911 | biostudies-literature
Project description:Retroperitoneal extrarenal angiomyolipoma (RERAML) are rare and close mimickers of retroperitoneal liposarcoma on both imaging and histopathology. However, imaging findings including heterogeneity, hyperdensity on unenhanced computed tomography, intralesional hemorrhage, absence of calcifications, low signal intensity on T2-weighted magnetic resonance imaging, and dilated intratumoral vessels can lead to the diagnosis of RERAML. Diagnosis of RERAML can avoid unnecessary surgery since conservative medical management with continued surveillance has been proven to be effective for RERAML whereas surgical resection is the treatment for liposarcoma. Imaging and laboratory follow-up for at least 5 years has been recommended in patients who underwent surgical resection of angiomyolipoma (AML). We present a case of RERAML in an asymptomatic patient whose AML recurred in the surgical bed 8 years after an ipsilateral nephrectomy for renal AML.
| S-EPMC5532902 | biostudies-other
Project description:BackgroundTo evaluate the efficacy and safety of everolimus, a mTOR inhibitor, on invasive malignant renal epithelioid angiomyolipoma (EAML).Materials and methodsFrom Oct 2014 to May 2019, we collected data from seven patients with a definite (clinical and pathological) diagnosis of EAML received everolimus in our hospital. Targeted sequence capture array technique with next-generation of high throughput sequencing (NGS) were performed to detect mutations of TSC1/2 genes. All patients had received surgery and everolimus. The clinical efficacy and safety of the therapy were evaluated.ResultsMutations of TSC1 and TSC2 were detected in two and three patients though targeted sequence capture array technique with NGS, respectively. Among seven patients, three had missense mutations, one had nonsense mutation, and one had the large fragment deletion mutation. Five patients accompanied with tuberous sclerosis complex (TSC) were identified. All patients were administered 10mg everolimus once daily, the treatment duration lasted for 3 to 28 months. The objective response was assessed 3 months later, five partial response, two stable disease (SD), the mean greatest tumor diameter of all patients decreased from 9.6 to 5.2cm. Six patients stayed SD and one patient died during follow up. Patients accompanying with TSC had better responses to everolimus compared with non-TSC.ConclusionThe mTOR inhibitor can be an effective treatment for patients with invasive malignant renal EAML. Patients with TSC may benefit more from the therapy.
| S-EPMC7870865 | biostudies-literature
Project description:Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with limited clinical data that can guide treatment choices. The diagnosis of EHE is based on its unique histological, immunohistochemical, and molecular characteristics. Differential diagnoses are broad and include autoimmune diseases. Treatments include hepatic resection, liver transplantation, systemic/regional chemotherapy, and radiotherapy. We describe EHE in a patient with weight loss and general weakness. The prognosis of EHE is variable, with few cases demonstrating an indolent clinical course, whereas others tend to metastasize. In our case, hepatic EHE had metastasized to the lungs and brain. Histopathological examination of the liver tissue revealed an epithelial hemangioendothelioma. On CK7 staining, hepatocytes were clearly reactive and arranged in the plates (CK7: negative), with positive immunohistochemical staining for CD34 (CD34: positive) alone. Surveillance was conducted and the clinical course was better than expected, probably due to her relatively good general condition, the lack of genetic factors associated with her familial medical history, and normal levels of tumor markers such as α-fetoprotein and carcinoembryonic antigen (CEA). During a follow-up examination, she was asymptomatic with a healthy general appearance. The prognosis of EHE is variable, with few cases demonstrating an indolent clinical course, whereas others tend to metastasize. The treatment method for EHE should be determined according to the patient's condition.
| S-EPMC11292091 | biostudies-literature
Project description:Epithelioid angiomyolipoma (EAML) is a rare variant of angiomyolipoma (AML). Previous studies have demonstrated that epithelial (E-)cadherin is expressed in two subtypes of AML, EAML and triphasic AML; however, the expression pattern of E-cadherin remains unclear. In the present study, a preliminary case-control study was conducted to determine the expression pattern of E-cadherin between EAML and triphasic AML, the control, focusing on the subcellular localization and expression category of E-cadherin. No significant difference was identified in the age, sex, history of tuberous sclerosis, smoking and alcohol consumption between the two groups (P>0.05). In EAML, 9 patients were categorized as exhibiting a low risk of malignant behavior and the other two were categorized as exhibiting an intermediate or high risk of malignant behavior. The proportion of cases expressing E-cadherin, human melanoma black-45 (HMB45), melanoma antigen recognized by T cells 1 (Mart1/Melan A), smooth muscle actin and progesterone receptor were 95.5 (21/22), 95.5 (21/22), 86.4 (19/22), 77.3 (17/22) and 86.4% (19/22), respectively. E-cadherin was identified to be localized, using staining techniques, in the cell membrane and/or cytoplasm. The subcellular localization of E-cadherin was significantly different between EAML and triphasic AML; the majority of EAML cases revealed membranous and cytoplasmic staining, whereas triphasic AML cases demonstrated cytoplasmic staining (P=0.0093). The expression of E-cadherin may be positively associated with HMB45 (P=0.0044) and Mart1/Melan A (P=0.0049). The results of the present study identified that the subcellular localization of E-cadherin may be different between EAML and the control group of triphasic AML. Additionally, E-cadherin and melanocytic markers may be co-expressed in distinct subtypes of AML. A follow-up study with a large sample size to validate the results of the present study, followed by a mechanistic study based on cell lines to determine any significance, are warranted.
| S-EPMC5494718 | biostudies-other
Project description:Lipomas are mesenchymal tumors characterized by the abnormal proliferation of adipocytes. We describe a case of retroperitoneal lipomas in a patient with chronic lymphatic leukemia, who was referred to our sonography unit for a regular (6-month) follow-up scan. She had no abdominal symptoms of note. The sonographic examination revealed two well-defined, hyperechoic, oval-shaped masses: the first situated between the posterior wall of the stomach, the duodenum, and the head of the pancreas; the second lying craniomedial to the left kidney. Neither of the masses exhibited intralesional vascularization on color Doppler imaging. Retrospective examination of previous CT scans revealed that the lesions had been present for the past 4 years. Their slow growth was consistent with the suspicion of retroperitoneal lipomas, and this diagnosis was confirmed by magnetic resonance imaging. CT and MRI are the imaging studies of choice for diagnosing retroperitoneal lipomas, but ultrasonography is ideal for the follow-up of these patients because it is repeatable and relatively low in cost.
| S-EPMC3558100 | biostudies-literature
Project description:IntroductionSchwannomas are tumors that arise from Schwann cells of the peripheral nerve sheath and rarely occur in the retroperitoneum (3% of all schwannomas). Patients are usually asymptomatic or have nonspecific symptoms, making accurate preoperative diagnosis difficult. Schwannomas are usually benign, but infrequently undergo malignant transformation. Herein, we report a case of retroperitoneal schwannoma and review the relevant literature.Presentation of caseA 25-year-old woman presented to our department with a 2-year history of abdominal pain that was localized in the right flank without radiation, constipation/diarrhea or externalized digestive hemorrhage. On physical examination, we found a painless palpable mass in the right hypochondrium extending to the right iliac fossa, measuring approximately 10 cm. The MRI and CT scan showed the presence of a large intra-abdominal oval formation in the right para-umbilical region. It was well limited, measuring 110*69mm with discrete irregular contours, thickened wall and heterogeneous content mostly fluid. They also showed the presence of a cystic formation in the right ovary measuring 84*52mm and extending over 76mm. The procedure consisted of resection of the retroperitoneal solid cystic mass, right ovariectomy and drainage of the right parietal-colic gutter by Salem sump tube. A laparotomy with a median incision above and below the umbilicus was performed. After the resection, the specimens were sent for anatomopathological examination which concluded that the retroperitoneal mass was a schwannoma and the ovarian mass was a serous cystadenoma.DiscussionRetroperitoneal schwannomas are rare tumors and a pre-operative diagnosis is often difficult. The diagnosis is most often fortuitous and late, given the latency of the tumor's evolution, and the definitive diagnosis is based on histopathologic examination. Herein we presented a case of retroperitoneal schwannoma and studied the features of this phenomenon on the basis of the literature.ConclusionRetroperitoneal schwannomas are rare. The diagnosis is often late at the stage of a large tumor. Radiologic findings are usually nondiagnostic. The treatment of choice is complete surgical excision. Prognosis is good but because of the risk of recurrence and malignant transformation, further follow-up is necessary.
| S-EPMC8519761 | biostudies-literature