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PubMed1996

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas.

To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1 and TSC2) and seven tumor suppressor gene-containing regions (TP53, NF1, NF2, BRCA1, APC, VHL, and MLM) in 20 hamartomas from 18 TSC patients. Overall, eight angiomyolipomas, eight giant cell astrocytomas, one cortical tuber, and three rhabdomyomas were analyzed. Loss of heterozygosity at either TSC locus was found in a large fraction of the informative patients, both sporadic (7/14) and familial (1/4). Interestingly, a statistically significant preponderance of loss of heterozygosity at TSC2 was observed in the sporadic group (P < 0.01). Among the possible explanations considered, the bias in the selection for TSC patients with the most severe organ impairment seems particularly appealing. According to this view, a TSC2 defect might confer a greater risk for early kidney failure or, possibly, a more rapid growth of a giant cell astrocytoma. None of the seven antioncogenes tested showed loss of heterozygosity, indicating that the loss of either TSC gene product may be sufficient to promote hamartomatous cell growth. Finally, the observation of loss of heterozygosity at different markers in an astrocytoma and in an angiomyolipoma from the same patient might suggest the multifocal origin of the second-hit mutation.

Chromosome Deletion↗
PubMed1985

Primary and secondary tumors of childhood involving the heart, pericardium, and great vessels. A report of 75 cases and review of the literature.

Between 1919 and 1981, 16 children with primary cardiac tumors (8 rhabdomyomas, 5 fibromas, 2 myxomas, and 1 rhabdomyosarcoma) and 59 children with secondary tumors of the cardiovascular system were seen at The Hospital for Sick Children in Toronto. Distant metastases in 45 children of the latter group, in descending order of frequency, were from non-Hodgkin's lymphoma, neuroblastoma, soft tissue and bone sarcoma, Wilms' tumor, and hepatoma, and involved the myocardium and pericardium. In the remaining 14 children, tumor thrombi from Wilms' tumor (9 cases), adrenal (2 cases) and hepatocellular carcinoma (2 cases), and endodermal sinus tumor (1 case) extended directly into the great veins and/or cardiac chambers. Children with primary and secondary tumors often present with nonspecific clinical, plain radiographic, electrocardiographic, and M-mode echocardiographic findings. Early recognition, utilizing special diagnostic procedures such as two-dimensional echocardiography, computerized axial tomography, angiocardiography, and inferior venocavography, followed by elective surgical resection of tumor under cardiopulmonary bypass and/or radiation and chemotherapy, offers patients with cardiovascular tumors the best chance of cure.

Angiocardiography↗
PubMed1994

Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis.

Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.

Female↗
PubMed1995

The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia.

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. SVT was documented in 50 out of 51 fetuses, one of which displayed a combination of extensive rhabdomyomas and severe hydrops and died shortly after referral. In the other fetus ventricular tachycardia was diagnosed. Of the remaining 49 fetuses, 14 did not receive any prenatal treatment, but nine needed postnatal treatment. Transplacental treatment of SVT took place in 35 fetuses, of which 22 presented without hydrops and 13 with hydrops. These subsets differed significantly with respect to restoration of normal sinus rhythm (73% vs. 30%; p < 0.001) and mortality (0% vs. 46%; p < 0.001). Digoxin was effective in restoring sinus rhythm in 55 per cent of the non-hydropic fetuses but in only eight per cent of the hydropic fetuses. Flecainide was effective in restoring sinus rhythm in all non-hydropic fetuses where digoxin treatment failed, and in 43 per cent of hydropic fetuses. Administration of flecainide resulted in a significantly reduced mortality (p < 0.001) compared with digoxin treatment. No adverse effects were seen. Postnatal anti-arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one.

Anti-Arrhythmia Agents↗
PubMed2004

Prenatal echocardiographic differential diagnosis of fetal cardiac tumors.

OBJECTIVES: To present data on echocardiographic findings of fetal cardiac tumors and discuss their differential diagnoses. METHODS: We retrospectively reviewed 14 cases of fetal echogenic cardiac mass diagnosed between 1990 and 2003; 12 were confirmed to be cardiac tumors and two were false-positive diagnoses. The echocardiographic characteristics examined included number, size, location and associated complications. RESULTS: Eight fetuses had a single tumor and four fetuses had multiple tumors. The left ventricle was most often affected. Parents of eight fetuses opted for termination of pregnancy, one fetus died in utero and three affected fetuses survived. Histopathological examination revealed cardiac rhabdomyoma in six fetuses, fibroma in two, teratoma in two, lipoma in one and hemangioma in one. The pitfalls associated with prenatal echocardiographic diagnosis of cardiac tumors include: they may be too small to be visualized, intracardiac echogenic foci may mimic tumors, and echogenicity resulting from extracardiac structures or neoplasms near the heart may falsely appear as tumors. CONCLUSION: Fetal cardiac tumors can be detected by echocardiography. However, differential diagnosis is important as this will affect prognosis and subsequent management.

Diagnosis, Differential↗
PubMed1995

A report on the perinatal diagnosis of 4 cases of cardiac tumors.

Since 1973, we have identified 4 cardiac tumors by ultrasonography in fetal or early postnatal life. Tuberous sclerosis was diagnosed in three infants whose mother was also affected. The first infant died from acute cardiac failure after birth, and the second required cardiac surgery. The third infant had a cardiac tumor and a focal seizure at the age of 8 months. The cardiac tumor disappeared at the age of 2 years. The fourth cardiac rhabdomyoma may be the only sign of tuberous sclerosis.

Diagnosis, Differential↗
PubMed1982

Primary rhabdomyosarcoma of the heart.

A primary rhabdomyosarcoma of the heart observed in a 3-week-old infant, provides an opportunity to review this rare clinical entity; 61 reported cases are collated. The more common sites are right ventricle, left atrium, and right atrium; the tumour may protrude into the cavity and cause obstruction. Echocardiography can demonstrate the tumour, which may also been seen as a filling defect on angiography. Primary heart tumours seldom occur, especially in infancy and childhood. According to Van der Hauwaert, the most common cardiac tumour in infancy is the rhabdomyoma. No primary malignant tumour was seen in 15 European centres within a 5-year period.

Angiocardiography↗
PubMed2003

[Angiomyolipoma of the kidneys as a rare cause of retroperitoneal hemorrhage. Two case reports with tuberous sclerosis Bourneville-Pringle].

Tuberous sclerosis (Bourneville-Pringle-disease, TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and hamartomatous tumours in multiple organs, including subependymal giant cell astrocytomas, cardiac rhabdomyomas and renal angiomyolipomas. Recent population-based studies suggest a prevalence of 1 case per 25,000 individuals. Renal angiomyolipomas, which may be found sporadically or associated with TSC, become evident as an acute retroperitoneal haemorrhage or by symptoms of a flank mass. Ultrasound and computed tomography provide clear evidence of lipomatous formation while, in rare instances, angiography can demonstrate the existence of multiple vascular tumour compartments. In view of two cases which were admitted with the clinical picture of an acute abdomen on the basis of retroperitoneal haemorrhage, the therapeutic strategies for TSC patients with renal angiomyolipomas are discussed, paying regard to the literature in this field.

Abdomen, Acute↗
PubMed2004

[Cystectomy for indications other than bladder cancer].

A cystectomy for indications other than transitional cell cancer of the bladder or general bladder cancer is frequently performed in cooperation with other surgical specialties such as general surgery or gynecology. In these cases the urological procedure as well as the oncological and surgical concepts of other specialties have to be combined. We studied our cystectomy patients who had undergone such a combined procedure for a non-urothelial indication concerning perioperative and postoperative complications.A total of 204 cystectomies were performed by the Department of Urology at the University of Hamburg, Germany between 1995 and 2003. Bladder cancer was the indication for cystectomy in 162 patients, but 42 patients had a non-urothelial indication for this procedure. These patients included 12 cases of advanced rectal cancer, 9 cases of advanced cervical cancer, 6 cases of advanced sigmoid cancer, 4 cases of advanced prostate cancer, 1 case of prostate sarcoma, 5 cases of complex vesicointestinal fistulae, 2 cases of urachal cancer, 1 leiomyosarcoma, 1 rhabdomyoma, and 1 rhabdomyosarcoma, respectively. Perioperative and postoperative complications of those patients were compared to patients who underwent cystectomy for transitional cell cancer of the bladder.Those 42 patients who underwent cystectomy for non-urothelial indications included 14 male and 28 female patients. The mean age was 58.2 years with a range of 3-78 years. For urinary diversion 30 ileum conduits, 4 sigma conduits, and 8 ileum neobladders were used. The mean operative time was 6.25 h. The mean blood loss was 2200 ml. An average of four red blood cell concentrates (RBC) had to be given. Postoperative hydronephrosis had to be treated in three (7%) patients unilaterally and in two (5%) patients bilaterally with a temporary nephrostomy. Postoperative urinary leakage lasting more than 30 days was found in two (5%) patients. A deep vein thrombosis as well as an ileus was found in five (12%) patients each, respectively. There was no perioperative mortality in this study. When comparing the complications of those patients with the 162 patients who underwent cystectomy for bladder cancer, the only significant difference ( p=0.033, chi-square test) was a higher ileus rate in the patients with cystectomy for a non-urothelial indication. Complications with cystectomy for non-urothelial indications are in large comparable to those for transitional cell carcinoma of the bladder. The higher ileus rate in non-urothelial patients can be explained by the more radical procedures in this group of patients. Even though the group of patients undergoing cystectomy for indications other than bladder cancer was small in this trial, the procedure is standardized in combination with other specialties. Larger patient numbers and a longer follow-up will lead to more data in this special group of patients.

Adolescent↗
PubMedDate not supplied

Fetal and neonatal cardiac tumors.

Primary tumors of the heart are uncommon in the fetus and neonate. Nevertheless, the widespread use of new imaging techniques has contributed significantly to earlier diagnosis, treatment, and thus improved survival. The clinical findings, imaging studies, pathology, and outcome of 224 fetuses and neonates with cardiac tumors collected from the literature are evaluated and discussed. Most tumors are benign, and of these rhabdomyoma is the most common, followed by teratoma, fibroma, oncocytic cardiomyopathy, vascular tumors, and myxoma. Malignant and metastatic tumors are described but are rare. Murmurs, arrhythmias, cyanosis, respiratory distress, and cardiac failure are the main presenting signs of cardiac tumors in the perinatal period. Disturbances in hemodynamic function are correlated with the size and location of the tumor. Cardiac vascular tumors have the best outcome, whereas malignant tumors have the worst. The purpose of this review is to concentrate on the fetus and neonate in an attempt to determine the various ways cardiac tumors differ clinically and morphologically in this age group from those occurring in older children and adults and to show that certain types of tumors have a better prognosis than others.

Diagnostic Imaging↗
PubMedDate not supplied

Primary intracardiac yolk sac tumor.

A 2-year-old male child presented with fever, complete heart block, and congestive cardiac failure. Echocardiography showed a dumbbell-shaped mass in the right ventricle and right atrium. He was operated on with a provisional diagnosis of rhabdomyoma. Histopathology and immunohistochemistry of the resected tumor revealed a malignant germ cell tumor with predominant yolk sac differentiation.

Biomarkers, Tumor↗
PubMed1997

Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis.

We have studied immunohistochemically the expression of tuberin, the protein product of the TSC2 gene, in cerebral, renal and cardiac tissues obtained from patients with tuberous sclerosis and from control patients. Tuberin immunoreactivity was moderate to strong in neurons and reactive astrocytes of control brains, but was reduced in brains with tuberous sclerosis. Staining intensity of abnormal giant cells varied from negative to moderate in cortical tubers, subependymal nodules and subependymal giant cell astrocytomas. In control kidneys, uriniferous and collecting tubules showed positive immunoreactivity, whereas a focal decrease in their staining intensity was noted in kidneys with tuberous sclerosis. Renal angiomyolipomas were negative for tuberin. In the heart, cardiac muscles in both control and tuberous sclerosis patients were strongly immunoreactive. Cardiac rhabdomyomas in the latter were stained less intensely. These results provide histological evidence for the loss of tuberin in tuberous sclerosis tissues, which is associated with the development of hamartomas in an organ-specific manner.

Adolescent↗
PubMed2000

Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis.

Tuberous sclerosis (TSC) is caused by a mutation in either the TSC1 or TSC2 gene. The clinical manifestations of mutations of the two genes are hardly distinguishable, for reasons as yet unknown. In this study, we examined the expression of the products of these genes, hamartin and tuberin, in control and TSC tissues. Western blotting disclosed that hamartin and tuberin are both abundant in the cerebral gray matter and that they have similar subcellular distributions and developmental patterns of expression. Immunohistochemical localizations of hamartin and tuberin were also similar, with high levels of expression being localized to the cerebral neurons and glial cells, renal uriniferous and collecting tubules, and cardiac muscles. In the cerebrum with TSC, both hamartin and tuberin were simultaneously reduced in the cortical tubers and subependymal giant cell astrocytomas, and from the normal-appearing cortex. The renal angiomyolipomas and cardiac rhabdomyomas also showed a loss of both the proteins. These results provide evidence for the co-localization and interaction of hamartin and tuberin in vivo, and suggest that a mutation in one TSC gene may secondarily affect the expression of the other in some TSC lesions.

Adolescent↗
PubMed2002

Value of autopsy in nonimmune hydrops fetalis: series of 51 stillborn fetuses.

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.

Autopsy↗
PubMed2005

Nonimmune hydrops fetalis in the liveborn: series of 32 autopsies.

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF.

Autopsy↗
PubMed1988

Olfactory hamartomas in tuberous sclerosis.

Gross or microscopic glial hamartomas were found in the anterior olfactory lobe and olfactory germinal layer of three babies, two of them newborns, with tuberous sclerosis. In two cases microscopic hamartomas were seen in the anterior olfactory lobe, and in one of them there was a prominent nodular tumor of the olfactory tract and trigone. In addition, in both of these cases there were bilateral germinal layer tumors between striatum and septum, at the junction of the obliterated olfactory recess and the frontal horn of the lateral ventricle. Only microscopic hamartomas were present in the olfactory germinal layer of the third case. Typical subependymal germinal layer tumors were also present elsewhere in all cases; however, cortical tubers were recognized in only two of them. In all three patients, the clinical presentation and death were due to cardiac rhabdomyomas. The findings suggest that olfactory hamartomas might be relatively common in tuberous sclerosis. Involvement of olfactory structures is not surprising because the lesions seem to originate in the germinal layer, a region of the brain which is prominently involved in the disease.

Brain Neoplasms↗
PubMed1988

Oral granular cell tumors: a clinicopathologic and immunocytochemical study.

To investigate the histogenesis of the granular cell, a large series of granular cell tumors was studied for clinical and histopathologic features with emphasis on immunocytochemical markers. The nongingival granular cell tumors (NGGCT) were found to be more prevalent among females than males by a ratio of 2:1 and arose on the tongue (67%), the buccal mucosa (13%), the lips (8%), the soft palate (6%), and other sites (6%). With the use of the avidin-biotin-peroxidase method, polyclonal rabbit antisera were employed. The antisera were directed to the following antigens: S-100 protein, myoglobin, myosin, actin, desmin, alpha-1-antitrypsin, and muramidase. Results indicated that granular cell tumors are not homogenous for immunocytochemical markers. Nongingival granular cell tumors were universally positive for S-100 protein and failed to exhibit immunoreactivity for myogenous or histiocytic markers. Alternatively, the gingival granular cell tumor of infancy was negative for all markers, whereas rhabdomyoma was reactive with myogenous markers and a subpopulation of tumor cells displayed S-100 protein immunoreactivity. The granular cell ameloblastoma was reactive only with antiserum to alpha-1-antitrypsin. Ultrastructurally, granular cells from one of two NGGCT showed a direct evolution from skeletal muscle fibers. It is concluded that the oral NGGCT is a tumor positive for S-100 protein that may arise from muscle or nerve sheath.

Adolescent↗
PubMed2006

Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a broad phenotypic spectrum that includes seizures, mental retardation, renal dysfunction and dermatological abnormalities. TSC is caused by mutations affecting either of the tumor-suppressor genes TSC1 and TSC2. At least 495 mutations of TSC1 and TSC2 have been reported. Twenty-two males and 22 females who were diagnosed with TSC at the Seoul National University Children's Hospital between 1982 and 2002 were enrolled in the study. Forty-four patients were from different families and included nine familial cases and 35 sporadic cases. Denaturing high performance liquid chromatography and DNA sequencing analysis of TSC1 and TSC2 revealed 13 types of mutations (30%). One novel mutation of TSC1 and nine novel mutations of TSC2 were identified. The TSC1 mutation and one of the nine TSC2 mutations were missense mutations and seven of the nine TSC2 mutations caused truncation of proteins. One novel single nucleotide substitution was identified at the consensus splicing donor site of exon 39 (c.5,069-1G>A). This mutation is predicted to cause a splicing error. Of the TSC2 mutation loci, the correlation with cardiac rhabdomyoma was more significant when the mutation was in the C-terminal part of tuberin than the N-terminal part. This is the first extensive mutational analysis of TSC1 and TSC2 in Korean TSC patients.

Child, Preschool↗