Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis

OBJECTIVE: To determine whether renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis (LAM) express estrogen receptor (ER) and progesterone receptor (PR). DESIGN: Retrospective study of archival tissue. PATIENTS: Twelve women with LAM and angiomyolipomas. SETTING: Fox Chase Cancer Center. INTERVENTIONS: ER and PR expression was studied using immunohistochemistry. The hormonal status of the patients at the time of resection of the angiomyolipoma was determined. RESULTS: Ten of the angiomyolipomas had ER immunoreactivity (83%), and all 12 had PR immunoreactivity (100%). The ER and PR positivity was in the smooth muscle component of the angiomyolipomas only. For five women, pulmonary LAM specimens were also available; two were ER positive (40%), and all five were PR positive (100%). All four angiomyolipomas from women receiving progesterone therapy were ER and PR positive. One tumor from a woman receiving tamoxifen was ER negative and strongly PR positive. One woman was pregnant; her tumor was ER and PR positive. CONCLUSIONS: ER and PR expression is frequent in renal angiomyolipoma cells from women with LAM. PR was more consistently present than ER in angiomyolipomas and in LAM. Our data suggest that angiomyolipoma growth could be affected by hormonal factors. If the growth of LAM-associated angiomyolipomas slows during hormonal therapy, there are two potential implications for LAM patients: first, angiomyolipoma size could serve as a measurable indication of response to hormonal therapy; and second, surgical removal of angiomyolipomas might be avoided in some cases.     

Case report of angiomyolipoma of the posterior upper mediastinum]

A case of posterior upper mediastinal angiomyolipoma is reported. The patient was an asymptomatic 63-year-old female, in whom an abnormal shadow was detected on chest x-ray at medical examination. On computed tomogram, the mass was located in the right paravertebral upper mediastinum, and its density had a CT-number of 12. It had high MRI intensity. Since there remained a possibility of malignancy, thoracotomy was carried out. The resected tumor was soft in consistency and the size was 20 x 23 x 37 mm. Histological examination showed that the mass was composed of fatty tissue, smooth muscle, and vascular tissue. Therefore, the tumor was diagnosed as angiomyolipoma. Although angiomyolipomas are often found in the kidney, those in the mediastinum are very rare and there have been only 2 cases reported in the literature. We consider that angiomyolipoma is rare, but important in the differential diagnosis of mediastinal tumors.     

Tuberous sclerosis associated with multiple hepatic lipomatous tumors and hemorrhagic renal angiomyolipoma.

We report a case of tuberous sclerosis associated with hepatic lipomatous tumors and renal angiomyolipomas. Abdominal ultrasonography revealed a high echoic large tumor in the left kidney. A provisional diagnosis of angiomyolipomas of the kidney was made based on computed tomography. Subsequent laparotomy revealed that the extracted tumor was renal angiomyolipoma. It was also revealed that there was an association with hepatic lipomatous tumors thought to be lipomas or angiomyolipomas by liver biopsy. Nearly half of all cases of angiomyolipoma in the kidney are reported as occasional association with tuberous sclerosis complex, but lipomatous tumors in the liver are rare.     

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a progressive and often fatal interstitial lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. LAM is of unusual interest biologically because it affects almost exclusively young women. LAM can occur as an isolated disorder (sporadic LAM) or in association with tuberous sclerosis complex. Renal angiomyolipomas, which are found in most tuberous sclerosis patients, also occur in 60% of sporadic LAM patients. We previously found TSC2 loss of heterozygosity in 7 of 13 (54%) of angiomyolipomas from sporadic LAM patients, suggesting that LAM and TSC could have a common genetic basis. In this study, we report the identification of somatic TSC2 mutations in five of seven angiomyolipomas from sporadic LAM patients. In all four patients from whom lung tissue was available, the same mutation found in the angiomyolipoma was present in the abnormal pulmonary smooth muscle cells. In no case was the mutation present in normal kidney, morphologically normal lung, or lymphoblastoid cells. Our data demonstrate that somatic mutations in the TSC2 gene occur in the angiomyolipomas and pulmonary LAM cells of women with sporadic LAM, strongly supporting a direct role of TSC2 in the pathogenesis of this disease.     

Late recurrence of a hepatic angiomyolipoma

Angiomyolipomas are benign mesenchymal tumours, mostly of renal origin. Hepatic angiomyolipomas are rare, and radiological and pathological diagnoses may be difficult We report on the first case of hepatic angiomyolipoma recurrence known to us, 6 years after surgical treatment of the initial tumour. Moreover, this hepatic recurrence was associated with renal angiomyolipoma without any stigmata of tuberous sclerosis.     

Hepatic angiomyolipoma--a rare liver tumor

A 22-year-old woman was treated for a hepatic lesion with a high suspicion of a liver adenoma at another hospital. The patient presented with unspecific abdominal pain. Further physical examination was unremarkable. A biopsy of the liver lesion revealed hepatic adenoma. Because of the increasing tumour size over a one-year period the patient was referred to our department for surgical therapy. On MRI scan, the liver mass measured 10 x 9 x 9 cm in the right liver lobe with contact to the right hilum. Because of the histological signs of adenoma a right hepatic lobectomy was performed. Postoperative follow-up was uneventful. The pathological diagnosis of hepatic angiomyolipoma was obtained. Angiomyolipoma of the liver is a rare benign mesenchymal tumour often mimicking other hepatic lesions. Histological features are thick-walled blood vessels, mature fat and smooth muscle in various proportions. The biological behaviour of the tumour is benign, although distant metastases are occasionally possible. Due to the potential for malignant transformation, tumour resection should be performed.     

An autopsy case of pulmonary embolism due to renal angiomyolipoma in an elderly woman]

An 86-year-old woman with a 13-year history of hypertension was admitted because of consciousness disturbance, hypotension, tachycardia, and cyanosis at her extremities. Enhanced computed tomography showed a thrombus in the truncus pulmonalis and right pulmonary artery, and also showed a left renal mass and a right renal cyst. Under a diagnosis of pulmonary embolism we started anticoagulant therapy, but the patient died five days after admission. At autopsy, a saddle-like thrombus was found in the truncus pulmonalis and bilateral trunks of pulmonary arteries. Microscopic examination showed smooth muscle cells in the thrombus. We could not find any other thrombus in the inferior vena cava, intrapelvic veins, nor in veins of lower extremities by milking. We also found tumors in both kidneys. Microscopically all tumors were diagnosed as angiomyolipoma. There were many fibrin thrombi in the sinuses of the tumors but there was no evidence of malignancy. We finally diagnosed pulmonary embolism due to renal angiomyolipoma because there was no other thrombus origin and microscopically the same smooth muscle cells were found both in the renal tumor and the pulmonary thrombus. There is only one case report concerning pulmonary embolism due to renal angiomyolipoma which happened during operative treatment. The treatment method of renal angiomyolipoma is determined by tumor size and symptoms, and usually intensive treatment is not performed in cases without symptoms. Our patient had no symptoms until the onset of severe complication of pulmonary embolism, suggesting that radical treatment is necessary for renal angiomyolipoma with a thrombus even when there are no symptoms.     

Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex： A case report

Tuberous sclerosis complex （TSC） is a dominantly inherited disorder which characterized by the growth of harmatomatous in multiple organs. Unlike the common development of renal angiomyolipoma, hepatic angiomyolipoma rarely occur in patients with TSC. We report here a patient with hepatic angiomyolipomas and concurrent hepatocellular carcinoma in TSC. This represents the first reported case in English literature. In this patient, multiple hepatic angiomyolipomas were diagnosed with recognition of their fat components and typical clinical settings. Hepatocellular carcinoma in the left liver lobe was definitely diagnosed by US guided biopsy. In such clinical settings, fat containing lesions in liver can be reasonably treated as angiomyolipomas, but non fat containing lesions must be differentiated from hepatocellular carcinoma, imaging guided biopsy can be adopted to confirm the diagnosis.     

Angiomyolipoma of the liver: Case report and collective review of cases diagnosed from fine needle aspiration biopsy specimens

We experienced a rare case of primary angiomyolipoma (AML) of the liver, preoperatively diagnosed by fine needle aspiration biopsy (FNAB). Radiographic imaging revealed characteristic features of an angiomyolipoma. The diagnosis was confirmed by the presence of epithelioid smooth muscle cells, mature fat cells and blood vessels in the biopsy tissue. Our review of the literature showed this to be the eleventh case to be diagnosed in this way. Despite this preoperative diagnosis, the lesion was resected because of its pleomorphic histological features. Histologically, the epithelioid smooth muscle component included cells with a bizarre appearance and occasional hyperchromatic nuclei, and furthermore, occasional mitotic figures were observed. In own MEDLINE search of the literature we found 11 cases of AML of the liver for which the diagnoses were established by FNAB, and the same features were present in 5 cases for which surgical excision was contemplated.     

Incidental discovery of an anterior mediastinal angiomyolipoma

Angiomyolipomas are benign mesenchymal tumors consisting of blood vessels, smooth muscle, and fat. These noninvasive lesions characteristically manifest in renal tissue but may arise less frequently in extrarenal locations including the mediastinum. Only 8 cases of mediastinal angiomyolipomas have been reported in the literature, 3 of which were reported in the English literature, and only 2 of which were located in the anterior mediastinum. We report a surgically confirmed case of an anterior mediastinal angiomyolipoma incidentally discovered in an asymptomatic patient, in whom a screening breast magnetic resonance imaging revealed an incidental 5.7 cm anterior mediastinal mass. Further characterization with contrast-enhanced chest computed tomography confirmed a heterogeneously enhancing anterior mediastinal mass, suggestive of thymoma or lymphoma. The mass was resected and histopathologic evaluation revealed an angiomyolipoma.     

Angiomyolipoma of the Liver

The case of a 59-year-old woman with angiomyolipoma who was diagnosed by CT appearance and attenuation values before surgery is reported. The patient underwent a right hepatic lobectomy and has been well for 2 years and 7 months since surgery. The present paper may be the first report of angiomyolipoma of the liver diagnosed by CT scan before surgery and successfully treated by hepatic resection.     

Epstein-Barr virus negative primary hepatic leiomyoma: Case report and literature review

Primary hepatic leiomyoma is a neoplasm of mesen-chymal origin and occurs only rarely. Secondary to benign smooth muscle proliferation, it is usually found in adult women and is associated with Epstein-Barr virus (EBV) infection. Here, we report the 29 th case of primary hepatic leiomyoma with its unique features related to diagnosis, treatment and developmental biology. A 48-year-old man, with an immunocompromised status, complained of pain in the upper quadrant of the abdomen. Serological analysis indicated no presence of hepatitis virus, no human immunodeficiency virus, and no EBV infection. The levels of α-fetoproteinand carcinoembryonic antigen were normal. A mass was detected in segment Ⅲ of the hepatic lobe by ultrasonography and an abdominal computed tomography scan. Endoscopy had negative findings. Exploratory laparotomy found no existing extrahepatic tumor and left lateral lobectomy was performed. Pathological examination showed the mass to be a typical leiomyoma. The cells were positive for α-smooth muscle actin and desmin, and negative for the makers of gastrointestinal stromal tumor (GIST), including CD117, CD34 and DOG1 (discovered on GIST1). In situ hybridization revealed negative status for EBV-encoded small RNA. After left lateral lobectomy, the patient was not given chemotherapy or radiotherapy. During a 2-year follow- up, no sign of local recurrence or distant metastasis was observed. In conclusion, we report a rare case of primary hepatic leiomyoma in a male patient without EBV infection. Hepatic resection was curative. This case presents data to expand our knowledge concerning the complex and heterogeneous nature of primary liver leiomyoma, indicating that EBV infection is important but neither necessary nor sufficient for the development of primary liver leiomyoma.     

Intraductal papillary neoplasm of the bile duct extending superficially from the intrahepatic to extrahepatic bile duct

Intraductal papillary neoplasm of the bile duct (IPNB) or liver is a recently noted rare disease, and its pathogenesis remains unclear. Here we present a case of IPNB with an interesting morphology, which was treated by resection of the right hemiliver and extrahepatic bile duct. A 79-year-old woman was found to have a high alkaline phosphatase level and slight dilatation of the right intrahepatic bile duct on imaging studies. The right intrahepatic bile duct became dilated over a 2-year period; however, no solid mass could be detected, and tumor markers were not elevated. Hepatic resection was scheduled because a mucin-producing bile duct carcinoma of the liver was suspected. A right hemihepatectomy was conducted, and the extrahepatic bile duct was also resected after malignant cells were found in the surgical stump of the right bile duct and in the bile itself. Macroscopically, diffuse dilatation of the intrahepatic bile duct was noted, but no solid component or mucin within the duct was found. Histopathological findings revealed carcinoma in situ, IPNB, in the majority of intrahepatic bile ducts, with no lymph node metastasis, and it extended continuously to the epithelium of the common bile duct. No tumor recurrence or biliary dilatation was observed at follow-up 2 years after surgery. It is important to consider malignancy in the presence of a dilated bile duct and in the absence of any cause of occlusion. Complete resection of IPNB results in a good prognosis and no recurrence.     

Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare disease categorized by an overgrowth of atypical smooth muscle cells (LAM cells) in the lungs and axial lymphatics, which is associated with the mesenchymal tumor angiomyolipoma. The disease occurs in women generally in their mid thirties with a prevalence approximately 1 per million in the general population but is much more frequent in women with tuberous sclerosis complex (TSC). LAM is categorized by airflow obstruction, lung cysts, recurrent pneumothorax, and pleural and abdominal chylous collections. The disease is progressive, generally resulting in respiratory failure and death. The TSC-2 gene is abnormal in LAM cells and may be responsible for their disordered growth. These cells are of an unusual phenotype, expressing smooth muscle proteins, melanoma proteins, estrogen and progesterone receptors. Although at present of unknown significance these are useful in diagnosis. Treatment is largely supportive, being directed at airflow obstruction, pneumothorax, chylous complications, and bleeding from angiomyolipomas. In patients with rapidly progressive disease, hormone manipulation is frequently tried in the form of progesterone or antiestrogen therapies although no firm evidence of their efficacy exists.     

Hepatocellular carcinoma with concomitant hepatic angiomyolipoma and cavernous hemangioma in one patient

The risk of developing hepatocellular carcinoma(HCC) is strongly associated with hepatitis B virus infection.Hepatic angiomyolipoma(AML),a rare benign tumor,is composed of a heterogeneous mixture of adipose cells,smooth muscle cells and blood vessels.Here,we report the case of a 44-year-old man who developed HCC with a concomitant hepatic AML and a cavernous hemangioma,in the absence of cirrhosis.To our knowledge,based on an extensive literature search using the www.pubmed.gov website,this is the first report of an HCC case with both concomitant AML and cavernous hemangioma at the same position in the liver.The presence of the hepatitis B surface antigen was detected,but the liver function was normal.Clinical and pathological data were collected before and during the treatment.Hepatic AML was diagnosed based on the typical histological characteristics and immunohistochemical staining,which revealed,a positive staining with a melanocytic cell-specific monoclonal antibody.There was no evidence of tuberous sclerosis complex in this patient.Although the HCC was poor- to moderately-differentiated,the characteristics of the AML and the cavernous hemangioma in this patient did not match any criteria for malignancy.Hepatectomy followed by transarterial chemoembolization treatment were effective therapeutic methods for the adjacent lesions in this patient.This case is an interesting coincidence.     

Renal involvement in tuberous sclerosis

Three patients are described with renal angiomyolipoma without accompaning central nervous system involvement. Each patient presented in a different manner; the first with signs and symptoms of renal insufficiency, the second with gross hematuria, and the third with flank pain. All patients had replacement of renal parenchyma by hamartomatous tumors composed of blood vessels, adipose tissue and smooth muscle cells. The first case is the fifth report of the development of renal failure in tuberous sclerosis. In the latter two cases, intravenous pyelograms suggested polycystic kidney disease but renal arteriography was diagnostic of diffuse angiomyolipomas. Malignant transformation of these tumors is rare, but hemorrhagic complications following renal biopsy is a major problem in these patients.     

Giant extrarenal retroperitoneal angiomyolipoma: a case report and literature review

Extrarenal angiomyolipoma is an uncommon disease entity and is rare in the retroperitoneum. We report a case of giant extrarenal retroperitoneal angiomyolipoma mimicking liposarcoma. A 35-year-old woman presented with a history of increased abdominal circumference and urinary frequency. Abdominal computerized tomography demonstrated a 24 x 21 x 16 cm retroperitoneal fatty tumor displacing the right kidney to the left upper quadrant of the abdomen. At laparotomy, the tumor was widely excised and the right kidney was successfully preserved. Final histologic examination identified the tumor as an angiomyolipoma. At 4-month postoperative follow-up, no evidence of tumor recurrence was found and the right kidney was fully functional.     

Primary leiomyoma of the liver: a rare benign tumor

Primary hepatic leiomyoma is a very rare tumor secondary to benign smooth muscle proliferation. The primary location in the liver is usually found in adult women. A 36-year-old woman with right upper quadrant abdominal pain had primary hepatic leiomyoma. The presenting features of primary leiomyoma and the diagnostic approach for these lesions are discussed, in particular the role of immunohistochemistry.     

Liver resection in cases of isolated hepatic actinomycosis: case report and review of the literature

Hepatic actinomycosis is an uncommon entity that forms communicating abscesses and fistulae. We report a 53-y-old immunocompetent male patient with hepatic actinomycosis. Symptoms included intermittent fever, abdominal pain, right upper quadrant tenderness and jaundice. A hepatic tumour mass was found on abdominal sonography and computerized tomography. Two preoperative percutaneous core biopsies of the mass were not diagnostic. The above findings were highly suggestive for liver abscess or purulent primary liver neoplasm. Treatment with intravenous antibiotics was continued for 20 d, but both symptoms and liver ultrasound findings remained unchanged. The patient underwent exploratory laparotomy and right posterior segmentectomy of the liver. Pathological examination of the surgically removed specimen disclosed hepatic actinomycosis. Following operation the patient remains in excellent condition without evidence of recurrence.