Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study aims to examine the frequency of the pheochromocytoma (pheo), defined as a "benign, intra-adrenal, hypertensive, sporadic, unilateral tumor." Three large series amounting to 310 subphrenic chromaffin tumors operated over periods of 17, 23, and 41 years, respectively, have been reviewed. Among those combined 310 pheos, 48 (15.5%) were malignant (i.e., metastatic) and 262 (84.5%) were benign; 42 (13.5%) were ectopic (35% of malignant tumors versus 9.5% of benign tumors); 230 (74.2%) were hypertensive (74% of benign tumors versus 73% of malignant tumors); 29 (9.4%) were bilateral, including 23 patients with a family history; 41 (13.2%) of patients had MEN II type A or B syndrome; and 20 (6.5%) occurred in a phacomatosis setting. Some of the patients had a non-MEN family history of pheo (n = 5), seemingly sporadic hyperparathyroidism (n = 4), or other associated neuroendocrine tumor (n = 9). Sometimes several of these features were combined. Finally 125 (40.3%) cases fitted the classic description of the tumor, 47.0% at the time of initial presentation and 40.3% at the end of follow-up. Late occurrence of metastases or metachronous diagnosis of familial disease make lifelong follow-up mandatory. Genetic studies may be indicated in pheochromocytoma patients.
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PMID:"The" pheochromocytoma: a benign, intra-adrenal, hypertensive, sporadic unilateral tumor. Does it exist? 772 30

The symptoms and therapy of a multicentric angiomyolipoma of the kidney, adrenal gland, paraaortic lymph nodes and renal fat tissue in a 9-year-old boy with tuberous sclerosis are reported. Angiomyolipomas are benign mesenchymal tumours that often occur together with tuberous sclerosis. Renal cell carcinoma in an angiomyolipoma is rare. Multicentricity and lymph node involvement is not a sign of malignancy or metastatic disease. Radiological characteristics in CT and plain X-ray may help in the diagnosis. Characteristically, the renal lesions are asymptomatic. Patients with incidental symptom-free angiomyolipoma should be followed. In other patients with pain in the loin, or when a solid tumour cannot be confidently excluded, conservative surgery or nephrectomy should be performed.
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PMID:[Multilocular, giant angiomyolipoma of the kidney, adrenal gland and para-aortic lymph nodes. Case report of a 9-year-old boy with tuberous sclerosis]. 797 36

Seven partial liver resections of at least six hepatic segments (five extended left hepatectomies, also called left trisegmentectomies, and two subtotal hepatectomies) were performed for tumor (of malignant nature in 6 cases). Six of seven patients were admitted for liver transplantation and one for liver resection. These procedures were performed under total vascular exclusion of the liver in six cases (with a veno-venous bypass in two cases) and with the Pringle maneuver in one case. Postoperative liver function was satisfactory in six cases whereas one patient died of hepatic failure on the tenth postoperative day. There was one bile duct stricture at eight months, after extended left hepatectomy. Four patients survived more than one year, three with hepatic tumor recurrence and one with distant metastases. Two patients were still alive, one after fourteen months with tumor recurrence in the liver, the other after seventeen months. In selected cases, partial hepatic resection of more than six segments can be performed for very large tumors. In cases of malignant tumors, a short period of survival with good quality of life can be offered to these patients.
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PMID:[Single-stage resection of at least 6 liver segments in cases of liver tumors]. 828 84

Lymphangiomyomatosis (LAM) is a rare disease that does not generally affect the female genital tract. We report two cases of uterine involvement by LAM in young women with tuberous sclerosis and renal angiomyolipomas. In both, the uterine lesions were grossly inapparent and were discovered during microscopic examination of hysterectomy specimens removed during surgical treatment for a primary ovarian adenocarcinoma with peritoneal and lymph node metastases in one case and a retroperitoneal lymphangiomyoma in the other. In one case, an area of uterine LAM with atypical features was interpreted as focal sarcomatous transformation. This patient also had pelvic and paraaortic lymph node involvement by typical lymphangiomyomas, a small uterine angiomyoma, and an occult primary endometrial adenocarcinoma. Immunostains for HMB-45 were strongly positive in the uterine LAM in both cases, the retroperitoneal and lymph node lymphangiomyomatous lesions, the uterine angiomyoma, and a resected renal angiomyolipoma. Although LAM is a rare uterine lesion, it must be distinguished from a variety of uterine smooth-muscle tumors.
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PMID:Lymphangiomyomatosis of the uterus associated with tuberous sclerosis and malignant neoplasia of the female genital tract: a report of two cases. 859 38

Overall, intraventricular supratentorial tumors are rare in childhood. Classification can be based on the separation of lesions originating in intraventricular structures, such as choroid plexuses, from glial neoplasms of the ventricular wall which tend to infiltrate the ventricular cavities. Aim of the present study is to review the most common neoplasms of this region in childhood. Choroid plexus tumors (papillomas and carcinomas) and subependymal giant cell astrocytomas are dealt with, while for the other neoplasms which are rarer or more typic of other age ranges, specific reports should be consulted. Choroid plexus papillomas affect infants and are the most frequent oncological type among congenital tumors. The malignant variant (grade III-IV) is represented by the less frequent the neoplasms. The malignant variant (grade III-IV) is represented by the less frequent choroid plexus carcinoma which is markedly invasive with respect to adjacent nervous structures and has a high tendency to form metastases even at onset. Anaplastic papillomas are intermediate forms whose correct histopathology is still debated. Most frequent glial tumors are subependymal giant-cell astrocytomas. They are benign tumors (grade I) typically albeit not constantly associated to tuberous sclerosis. In this case the differentiation from subependymal nodules plays a major role. Contrast enhanced CT is fundamental in this assessment. Anaplastic variants, though rare, are well-known.
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PMID:Intraventricular supratentorial tumors in children. 867 37

The tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disorder characterized by seizures, mental retardation, and hamartomas. Patients with TSC have been reported to develop renal cell carcinomas (RCC) with increased frequency, an observation that is supported by the Eker rat model. To address the role of the tuberous sclerosis tumor suppressor genes in the pathogenesis of RCC, we studied six TSC-associated RCCs. Our findings suggest that some TSC-associated RCCs have clinical, pathological, or genetic features distinguishing them from sporadic RCC. Clinically, the TSC-associated tumors occurred at a younger age (mean, 36 years) than sporadic tumors and occurred primarily in women. Four of the six patients died of metastatic disease. Pathologically, five tumors displayed clear cell morphology. Of those five, two had high-grade spindle cell areas and one had granular cell histology in addition to the clear cell areas. A sixth tumor was anaplastic throughout. Four of the six tumors immunostained positively for a melanocyte-associated marker, HMB-45. HMB-45 positivity has been seen in two other TSC lesions: renal angiomyolipomas and pulmonary lymphangiomyomatosis. Five tumors were analyzed for loss of heterozygosity. Two had loss of heterozygosity on chromosome 9q34 and one had loss of heterozygosity on chromosome 16p13. We conclude that TSC-associated RCCs occur at an earlier age than sporadic RCCs, that some TSC-associated renal carcinomas have a different immunophenotype than sporadic RCCs, and that the TSC tumor suppressor genes may play a specific pathogenic role in these tumors.
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PMID:Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. 886 69

Two case reports of hepatic angiomyolipoma, both originating in the caudate lobe, are reported with a review of the literature. The liver is the second most common site of angiomyolipoma, an uncommon benign tumor of mixed mesenchymal origin. It is commonly diagnosed following abdominal pain or as an asymptomatic mass discovered on abdominal ultrasound or computed tomography scan. Of 74 cases reported, the lesions ranged from 0.3 to 36 cm in diameter and are noted between the first and eighth decade, with predominant female predilection. The right lobe is the most common site, with lesions arising in the caudate lobe comprising only five cases. The natural history of the hepatic lesion is unknown. Malignant invasion or metastatic disease has not been documented. Hepatic and renal angiomyolipoma can occur concurrently (13 of 60 cases), although the majority are not biopsy proven. Multicentric hepatic disease occurs. The correlation between tuberous sclerosis and hepatic angiomyolipoma is not confirmed histologically and occurs rarely. These lesions have a characteristic radiographic appearance due to high fat content. Histologically, angiomyolipoma are characterized by an admixture of adipose tissue, blood vessels, and smooth muscle cells. These lesions cannot reliably be differentiated from a malignant lesion based on clinical history, radiologic examination, and/or pathologic interpretation. If clinical suspicion for malignancy is low, then careful observation with serial radiologic follow-up is performed. The treatment for a symptomatic or suspicious lesion is resection, if feasible. Liver transplantation may be considered for large or centrally located lesions not amenable to resection.
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PMID:Hepatic angiomyolipoma: two case reports of caudate-based lesions and review of the literature. 937 58

A relative weakness of the traditional spin-echo technique, and particularly of the newer "FAST" or "TURBO" spin-echo sequences, has been diminished conspicuousness of lesions affecting the peripheral cortical mantle or those located in the periventricular region. This is a consequence of partial volume effects and high cerebrospinal fluid (CSF) signal adjacent to pathologic regions. Fluid-attenuated inversion recovery (FLAIR) is a magnetic resonance imaging (MRI) sequence that produces strong T2 weighting, suppresses the CSF signal, and minimizes contrast between gray matter and white matter. This effect produces images with significantly increased lesion-to-background CSF contrast and enhances the visibility of lesions as well as their detectability, particularly in the peripheral subcortical and periventricular regions. Applications are evolving, though preliminary reports highlight the superiority of FLAIR in the evaluation of infarction, multiple sclerosis, metastatic disease, tuberous sclerosis, and, possibly, subarachnoid hemorrhage. Early reports also address the application of FLAIR to imaging of the spinal cord. Modified versions of FLAIR are currently being developed; these modifications will further shorten acquisition times and eliminate pulsation artifacts. FLAIR may ultimately supplant conventional spin-echo imaging in routine MR screening of the brain.
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PMID:Fluid-attenuated inversion recovery (FLAIR): clinical prospectus of current and future applications. 940 79

Renal epithelial tumors (carcinoma and oncocytoma) have been reported with higher a frequency than expected in patients with the tuberous sclerosis complex. However, the recent identification of a monotypic, epithelioid variant of angiomyolipoma, closely simulating renal cell carcinoma, has cast doubt on the real frequency of carcinoma. Immunohistochemical analysis with a panel of antibodies, including melanogenesis marker HMB45, can discriminate between carcinoma and carcinoma-like angiomyolipoma. We studied five tumors previously reported as carcinoma and found that only one of them showed an immunohistochemical phenotype indicative of an epithelial tumor (Ker+, HMB45-). Three tumors exhibited a phenotype compatible with the monotypic epithelioid variant of angiomyolipoma (HMB45+, Ker-), and two of the three patients died of metastatic disease. The last patient had unusual clinical features, and the tumor was positive both for HMB45 and keratin. It is concluded that (1) renal cell carcinoma is less common in tuberous sclerosis complex than previously believed, (2) some cases called renal cell carcinoma probably represent a monotypic, epithelioid variant of angiomyolipoma, and (3) epithelioid angiomyolipoma is a potentially malignant tumor with invasion and metastases. These findings indicate that all reported renal carcinomas in tuberous sclerosis complex, therefore, must be reevaluated.
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PMID:Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. 1007 31

Dissecting aneurysms of the hepatic artery are extremely rare. We report herein the case of a 51-year-old man with massive hepatic metastases from rectal carcinoma, who was found incidentally to have a left hepatic artery aneurysm by a preoperative angiography. After replacing the left hepatic artery with a 2-cm segment of long saphenous vein, an extended right lobectomy with partial resection of the left lateral segment for multiple metastases was successfully performed. To prevent thrombus formation at the anastomosis, the Pringle maneuver was not used during dissection of the hepatic parenchyma. Histological examination of the resected specimen showed a dissecting aneurysm of the left hepatic artery, but there were no findings to suggest the etiology of this disease. The patient is currently alive 13 months after his operation without any evidence of further recurrence of the carcinoma. To the best our knowledge, 12 case reports of this anomaly have been documented, but only one of these describes a successful operation. The clinical features and etiology of the hepatic artery aneurysm that develops independent of other vascular diseases are discussed following this case report.
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PMID:Primary dissection of the hepatic artery: report of a case. 978 81


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