Renal Hamartoma Research Articles

An analysis of low miR-199a expression in renal cell carcinoma (RCC) and and its association with regulation of GSK-3beta.

e15020 Background: Renal cell carcinoma (RCC) is highly resistant to chemotherapy due to a high apoptotic threshold. Recently, we have shown nuclear accumulation of GSK-3β as a new marker of human RCC and identified that GSK-3 positively regulates RCC cell survival and proliferation. It has been reported that GSK-3β is a miR-199a target. Our objectives were to determine the expression level of miR-199a in human RCC and renal cancer cell lines, and to assess the anticancer effect of reintroduction of pre-miR-199a in renal cancer cells in vitro. Methods: TaqMan MicroRNA assay was applied to examine miR-199a expression in 54 human RCCs and normal kidney counterpart as well as in 8 renal cancer cell lines. Immunohistochemical staining was performed to determine the expression pattern of GSK-3β in RCC tissues. Western blotting, quantitative RT-PCR and MTS cell viability assay were used to study the effect of pre-miR-199a reintroduction into renal cancer cells in vitro. Results: We detected low miR-199a expression in 57% (31 of 54) of RCCs. We found that 87% (27 of 31) of low miR-199a tumors were clear cell carcinomas. Downregulation of miR-199a was correlated with higher stage (Chi square for trend 4.605, p=0.0319) and nuclear accumulation of GSK3β (Fisher’s exact test, p=0.0249) in clear cell RCCs. We found high miR-199a expression in two benign renal hamartomas (angiomyolipoma). Reintroduction of pre-miR-199a into renal cancer cells led to decreased GSK-3β, XIAP, Bcl-2 expression and suppression of RCC cells proliferation and survival. Conclusions: We found that miR-199a is downregulated in most RCCs and this tumor phenotype is strongly associated with nuclear accumulation of GSK-3β and malignant potential of clear cell tumors. Our results identify low miR-199a as a novel diagnostic marker in RCC, and suggest reintroduction of pre-miR-199a as a new treatment strategy in RCC.

Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism)

Review on Perlman syndrome (renal hamartomas, nephroblastomatosis and fetal gigantism), with data on clinics, and the genes involved.

Retroperitoneoscopic microwave ablation of renal hamartoma: Middle-term results

The safety and efficacy of retroperitoneoscopic microwave ablation (MWA) in the treatment of renal hamartoma were evaluated. From July 2007 to July 2009, a total of 16 cases of renal hamartoma were treated with retroperitoneoscopic MWA. Peri- and post-operative findings were observed. Middle-term efficacy was assessed by contrast-enhanced computerized tomography (CT) in follow-up period. All patients received MWA of 1-5 points. The mean operative time was 85 min and the mean blood loss was 65 mL. During a median follow-up of 16 months, no evidence of disease recurrence was observed despite of incomplete ablation in 1 case. Retroperitoneoscopic MWA is a relatively simple procedure with less impact to renal function and less complication. The outcome of middle-term follow-up is satisfactory. Thus, retroperitoneoscopic MWA appears to be a safe and effective technique for renal hamartoma in selected patients.

RENAL HAMARTOMA

British Journal of UrologyVolume 44, Issue 1 p. 112-116 RENAL HAMARTOMA Angiomyoliposarcoma: A Case Report B. N. Colabawalla F.R.C.S., B. N. Colabawalla F.R.C.S. St Georg's Hospital, BombaySearch for more papers by this author B. N. Colabawalla F.R.C.S., B. N. Colabawalla F.R.C.S. St Georg's Hospital, BombaySearch for more papers by this author First published: February 1972 https://doi.org/10.1111/j.1464-410X.1972.tb12122.xCitations: 4AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume44, Issue1February 1972Pages 112-116 RelatedInformation

Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex

Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, particularly between the monozygotic twins, and IQ was inversely related to tuber count. Cutaneous, renal, and cardiac findings did not appear to cluster within families. Although the monozygotic twins displayed similar physical manifestations of tuberous sclerosis complex (renal and cardiac hamartomas), they differed markedly in neurocognitive profiles. Phenotypic variation within these families may be explained largely as a function of the randomness of second-hit events that cause hamartomas in tuberous sclerosis complex or by as-yet-unidentified genetic modifiers. Familial variation in tuberous sclerosis complex phenotype has important implications for genetic counseling.

Nursing of patients with renal hamartoma undergoing different operations

目的 探讨不同手术方式治疗肾错构瘤的护理措施.方法 回顾性分析35例手术治疗肾错构瘤患者的临床护理资料.术前给予心理护理、瘤内出血或肿瘤自发破裂出血的观察与护理,术后根据不同手术方式采取相应的护理,尤其是加强并发症的观察与护理.结果 35例患者均如期接受手术治疗,术后无并发症发生,并顺利康复.病理检查均为肾错构瘤,其中2例为肾错构瘤破裂出血,1例肾错构瘤并瘤内出血.结论 告知相关护理知识,是取得患者配合的重要措施,预防并发症的发生和加强并发症的观察与护理,是患者顺利康复的关键。

A Case of Perlman Syndrome Presenting With Hemorrhagic Hemangioma

The presence of enlarged, echogenic kidneys in a newborn with generalized macrosomia points toward diagnosis of an overgrowth syndrome. These include Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes. Perlman syndrome is an autosomal recessively inherited overgrowth syndrome characterized by fetal gigantism, visceromegaly, unusual face, bilateral renal hamartomas with nephroblastomatosis, and Wilms tumor. We report a male infant who exhibits typical features of Perlman syndrome with an unusual presentation. In this report, it is emphasized that hemangioma in neonatal period may be an unusual finding in Perlman syndrome.

Angiomyolipome rénal compliqué d’une extension à la veine rénale et à la veine cave inférieure

Renal angiomyolipomas are renal hamartomas. They are usually found incidentally, presenting as well-defined echogenic masses on sonography and fat containing tumors on CT and MRI (1). We report a case of angiomyolipoma with sonographic and CT evidence of extension to the renal vein and inferior vena cava.

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.

Tuberous sclerosis with visceral organ involvement.

This study is to determine the incidence of visceral organ involvement in tuberous sclerosis (TS). We reviewed 30 cases of TS diagnosed between 1987 to 1997. There were 17 males and 13 females, ages ranged from one day old to 17 years old. Among the 30 cases, 25 patients had seizures and skin manifestations; 24 had cerebral tubercles; 10 had heart involvement (9 rhabdomyoma, 1 dilated cardiomyopathy); 4 had kidney involvement (3 polycystic kidney disease, 1 renal hamartoma); and 3 had retinal astrocytic hamartoma. Based on our study, the most common visceral organs involved were the heart and kidney. Among the ten patients with cardiac rhabdomyoma, six were less than 1 year old (mean age 1.6 +/- 2.2 years old). One newborn presented with a cardiac mass diagnosed by prenatal sonography and another newborn, noted to have tachycardia after birth, underwent surgical intervention due to impending heart failure. Four patients had kidney abnormalities; three were less than 5 years old (mean age 5.2 +/- 5.2 years). During this 10 year period, there was no mortality seen among patients with visceral organ involvement. We suggest that clinicians treating patients with TS should not overlook the visceral organs, especially heart and kidney, which, if involved can have significant morbidity.

Usefulness of Pe rcutaneous Multiple Core Tissue Biopsy of Small Lung and Pleural Lesion Using Modified Coaxial Technique Under CT Guidance

Purpose : To assess the usefulness of modified coaxial technique for percutaneous multiple core tissue biopsy of small lung and pleural lesion. Materials and Methods : The author retrospectively reviewed 37 cases of small (≤1.5 cm) lung (n=34) and pleural lesion (n=3) in patients who had undergone percutaneous biopsy using modified coaxial technique. All procedures were performed in a CT room, and distance, length and direction were checked on a CT monitor at every five steps of the procedure. During the first step, the site for skin puncture was decided using the slit beam of the gantry and localization grid of the monitor. During the second, puncture direction was decided by referring to the monitor, and a 17G short needle was used as a direction guide and inserted in the chest wall. During the third step, a 22G hub-removable special needle was inserted coaxially through the 17G needle lu-men as measured. During the fourth, an 18G guiding cannula was introduced coaxially almost as far as the border of the lesion over the 22G special needle, hub of which had already been removed. During the fifth step, multiple core tissues were obtained in six directions (fanning-out technique) using a 19.5G automated biopsy gun through the guiding cannula. Histopathologic diagnosis and complications were reviewed. Results : Six core tissues of the lesion were obtained in 32 of the 37 cases, four cores in four and three cores in one. Histopathologic diagnosis was made in 35 (95 %) of the 37 cases, and the findings were as follows: adeno-carcinoma(n=15), squamous cell carcinoma(n=1), small cell carcinoma(n=3), metastatic renal cell carcino-ma(n=1), tuberculosis(n=7), hamartoma(n=4), cryptococcosis(n=1) and metastatic adenocarcinoma of the pleura(n=3). Hemoptysis was noted in two cases but subsided spontaneously. Pneumothorax occurred in two cases (5 %), and in one of these an 8.3 F catheter was inserted. Conclusion : Modified coaxial technique under CT guidance for obtaining multiple core tissues of small lung and pleural lesion, with a single puncture of the pleura in one session of percutaneous biopsy, is useful for histopathologic diagnosis and the treatment of complications.

Adult renal hamartomas.

Renal angiomyolipomas, the most familiar of the renal hamartomas, are well known to radiologists, despite being uncommon and of limited clinical importance, because angiomyolipomas represent one of the few lesions for which a specific diagnosis can be achieved on the basis of radiologic findings in the majority of cases. Because of the diversity in the relative amounts of various cellular components and because of the occasional association with acute hemorrhage, the radiologic features of angiomyolipomas can be somewhat varied. At sonography, angiomyolipomas appear echogenic with acoustic shadowing. At computed tomography (CT), these lesions typically appear as well-marginated, small (< 5 cm in size), cortical masses of predominantly fat attenuation with heterogeneous soft-tissue attenuation interspersed throughout. Some angiomyolipomas are larger and poorly marginated because of hemorrhage. Typical angiomyolipomas are largely composed of fat; those uncommon tumors without demonstrable fat cannot be radiologically distinguished from renal cell carcinoma. Renal leiomyoma, a lesion that pathologically overlaps with angiomyolipoma to some degree, has a quite different imaging appearance (ie, homogeneous, without detectable fat) that cannot be distinguished from malignant renal lesions.

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas

Detection of fat in a renal cell carcinoma mimicking angiomyolipoma.

The authors report a case of renal cell carcinoma in which computed tomography (CT) revealed fatty tissue and calcification within a solid renal mass. The detection of a mass with negative CT numbers at CT and increased echogenicity at ultrasound led to the incorrect diagnosis of angiomyolipoma (renal hamartoma). The presence of intratumoral calcification should have prompted further evaluation because angiomyolipomas usually do not calcify. The authors do not believe that the nonsurgical approach to angiomyolipomas should be abandoned.

Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects

Renal angiomyolipomas were present in 23 out of a series of 38 patients with proven tuberous sclerosis (60.5%). Multiplicity and bilateral localization of combined renal angiomyolipomas were important differences between this category and the isolated, usually solitary, angiomyolipomas. One of the parents of a patient with tuberous sclerosis had small renal angiomyolipomas without signs of tuberous sclerosis. This indicates that renal angiomyolipomas might be a forme fruste of tuberous sclerosis. Two patients with suspected isolated renal angiomyolipomas proved to have tuberous sclerosis. From this study we can conclude that multiple angiomyolipomas, or a combination of a single renal hamartoma with one of the signs suggestive of tuberous sclerosis, warrant a thorough examination to exclude tuberous sclerosis.

Atypical Renal and Pararenal Hamartomas Associated With Lymphangiomyomatosis

No AccessJournal of Urology1 Sep 1984Atypical Renal and Pararenal Hamartomas Associated With Lymphangiomyomatosis W.M. Rumancik, M.A. Bosniak, R.J. Rosen, and D. Hulnick W.M. RumancikW.M. Rumancik More articles by this author , M.A. BosniakM.A. Bosniak More articles by this author , R.J. RosenR.J. Rosen More articles by this author , and D. HulnickD. Hulnick More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(17)49794-1AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail "Atypical Renal and Pararenal Hamartomas Associated With Lymphangiomyomatosis." The Journal of Urology, 132(3), p. 627 © 1984 by The American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 132Issue 3September 1984Page: 627 Advertisement Copyright & Permissions© 1984 by The American Urological Association Education and Research, Inc.MetricsAuthor Information W.M. Rumancik More articles by this author M.A. Bosniak More articles by this author R.J. Rosen More articles by this author D. Hulnick More articles by this author Expand All Advertisement PDF downloadLoading ...

Spontaneous intrapartum ruptureof renal hamartoma

Spontaneous rupture of a renal hamartoma during pregnancy is a rare condition.Increased blood volume, increased renal blood flow, and vascular changes secondary to a change in the hormonal milieu may predispose to rupture in pregnancy. The diagnosis is made difficult by a desire to proceed cautiously and avoid the inherent risks of interventional radiography, aggressive surgical therapy, or conservative management as well. However, a conservative approach may be successful in selected cases.

Preoperative radiologic diagnosis of renal angiomyolipoma. Significance of angiography and computerized tomography

The differential diagnosis of angiomyolipomas is an manifold as their angiographic appearances. The differentiation of this renal hamartoma from its most important differential diagnosis, carcinoma of the kidney, is possible only occasionally even when one includes epidemiological, clinical and angiographic findings, CT, in the other hand, provides certain pre-operative diagnosis in most cases by showing portions of the tumour of fat density. In any case, surgical treatment should be carried out, but the actual procedure will be significantly influenced. Demonstration of a benign space-occupying lesion allows one to plan a procedure which will preserve the kidney.

Spontaneous renal rupture in pregnancy

A review of the literature reveals 9 cases of spontaneous renal rupture in pregnancy, to which we add another case. Most cases occurred in hydronephrotic kidneys. Four cases consisted of renal rupture without associated infection or tumor, 3 were associated with abscesses, and 3 ruptured through renal hamartomas. Previously, all ruptured kidneys were removed. In our case the kidney was salvaged satisfactorily by prompt placement of a nephrostomy tube and drainage of the perirenal tissue. Attempt at renal salvage is urged for renal rupture in pregnancy.

Zum Stellenwert der Röntgendiagnostik bei der tuberösen Sklerose (Morbus Bourneville)

Tuberous sclerosis is a rare disease in which hamartomas may be found in the brain, the retina, the skin and in other internal organs. The classic form of the disease showing mental retardation, epilepsy and adenoma sebaceum is easily recognised. Incomplete forms, however, can provide considerable diagnostic difficulties. Angiographically, appearances are found which cannot be differentiated with certainty from those of malignant tumours. Malignant tumours are very rare in this condition. Nephrectomy can be avoided if the diagnosis is made at an early stage. Two female patients are reported, in one of whom the diagnosis was made by renal angiography. Despite the presence of large tumours in both kidneys, these organs could be preserved by surgery. In the second patient there were also bilateral renal hamartomas, but surgery was not carried out. Both cases showed typical changes in the fingers and toes as well as intracerebral calcification, and in one the lungs were affected.