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PubMedDate not supplied

Tuberous sclerosis: immunohistochemistry expression of tuberin and hamartin in a 31-week gestational fetus.

Tuberous sclerosis complex (TSC) is a common autosomal dominant disorder in which affected patients develop a wide variety of benign and malignant tumors. We report here on a 31-week gestational age fetus with pathological features of TSC. Developmental expression of hamartin and tuberin in various tissues was studied using immunohistochemistry. There was loss of expression of hamartin in the tuber and weak expression of the tuberin. Both hamartin and tuberin were expressed in bronchial epithelial cells, cardiac muscles, renal collecting tubules, and neural tissues. The rhabdomyomas stained negatively for tuberin and hamartin. Two genetic loci are responsible for TSC-TSCI and TSC2. The TSC1 gene on chromosome 9 encodes a protein termed hamartin that lacks sequence similarity to any known proteins, whereas the TSC2 gene on chromosome 16 codes for a protein termed tuberin. These results indicate that tuberin and hamartin may play a critical role in development and thus provide a framework for understanding the developmental and hamartomatous manifestations of tuberous sclerosis.

Brain↗
PubMed1990

The diagnostic utility of desmin. A study of 584 cases and review of the literature.

The diagnostic utility of several antibodies against desmin and their optimal staining conditions have not been systematically evaluated. Sections of paraffin-embedded tissues from 584 cases were stained with a monoclonal antibody against desmin (Clone DER 11 from DAKO), using an avidin-biotin-peroxidase technique. The results were tabulated and compared with those from previous reports. The following observations were made: (1) When pronase digestion was performed before staining, desmin was equally demonstrable in tissues fixed in formalin, Zenker's, Bouin's, or B5 fixative; however, desmin staining was lost or significantly diminished in tissues fixed in absolute ethyl alcohol. In contrast, when pronase was not used, a positive staining was demonstrated only in tissue fixed in absolute ethyl alcohol. (2) Positive staining was found in normal muscle (92 of 92 cases), leiomyoma (12 of 13), rhabdomyoma (6 of 6), rhabdomyosarcoma (31 of 31), leiomyosarcoma (18 of 26). (3) Desmin was never found in epithelia, normal mesenchymal tissue other than muscle, tumors stimulating rhabdomyosarcoma, and epithelial tumors. (4) A positive staining was documented in 1 tumor (a fibrous histiocytoma) of 42 benign predominantly spindle cell tumors and in 8 of 89 predominantly spindle cell sarcomas. (5) Desmin was never documented in myoepithelial cells but stained myofibroblasts in 2 of 12 examples of granulation tissue and in 29 of 67 samples containing tumor-associated desmoplasia. The authors' data on the diagnostic sensitivity and specificity of the evaluated antibody should improve the use of desmin in diagnostic pathology.

Antibodies, Monoclonal↗
PubMed1994

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor.

We have previously demonstrated allele loss in hamartomas from patients with tuberous sclerosis for markers spanning the tuberous sclerosis gene on chromosome 16q13.3 (TSC2). Germline deletions in the TSC2 gene have been shown in 5% of patients with tuberous sclerosis (TSC). These data support our hypothesis that the TSC2 gene acts as a growth suppressor gene, analogous to the traditional tumour suppressor gene. We now report a TSC hamartoma showing allele loss for markers on chromosome 9q34 in the region of the TSC1 gene. We studied six hamartomas from four sporadic and two familial cases of TSC, none of which showed allele loss for markers on chromosome 16p13.3. The hamartomas were paraffin embedded sections of three renal angiomyolipomas, two giant cell astrocytomas, and a cardiac rhabdomyoma. Eight markers were analysed, comprising from centromeric to telomeric ASS-D9S64-D9S149-ABO-D9S150-DBH-D9S66-D9S67++ +. One angiomyolipoma showed allele loss for the markers ABO, DBH and D9S66, but not for D9S149 or D9S67. The patient was not informative for D9S150. The family structure did not permit the phase of the disease and marker alleles to be determined. These finding support the hypothesis that the TSC1 gene on 9q34, like the TSC2 gene, acts as a growth suppressor. The data would place the TSC1 gene between D9S149 and D9S67. Mapping of allele loss in hamartomas may help in the refinement of the location of the TSC1 locus.

Angiomyolipoma↗
PubMed2000

Therapy for primary cardiac tumors: is there a role for heart transplantation?

Primary cardiac tumors are rare clinical entities. Benign tumors are often amenable to surgical excision, whereas malignant tumors are seldom resectable. The literature has reported that 28 patients have undergone orthotopic heart transplantation for inoperable primary cardiac tumors. The results of these transplants are presented in this article. Of the 28 patients who underwent orthotopic heart transplantation for primary cardiac neoplasms, 7 patients had benign histology (fibroma-5, rhabdomyoma-1, and pheochromocytoma-1) and 21 patients had malignant histology (sarcoma-15, malignant fibrohistiocytoma-3, and lymphoma-3). Mean survival in the patients with benign histology was 46 months, and the mean survival in the patients with malignant histology was 12 months. However, there were seven patients with malignant histology who had survived for a mean of 27 months without evidence of recurrent disease. An awareness by clinicians of the presenting clinical picture of these tumors is warranted in view of the potential for cure by resection or transplantation. Patients with benign primary cardiac tumors appear to benefit from the complete resection afforded by cardiectomy and transplantation. The role of transplantation for patients with malignant tumors remains unclear. Further experience and continued follow-up of these patients is necessary to ascertain the role of cardiac transplantation, radiation, and chemotherapy in the management of patients with primary tumors of the heart.

Fibroma↗
PubMedDate not supplied

Differentiation of tumor from viable myocardium using cardiac tagging with MR imaging.

We report the application of myocardial tagging by MR to define tissue planes and differentiate contractile from noncontractile tissue in a neonate with congenital cardiac rhabdomyoma. Using custom-written pulse programming software, six 2 mm thick radiofrequency (RF) slice-selective presaturation pulses (tags) were used to label the chest wall and myocardium in a star pattern in diastole, approximately 60 ms before the R-wave gating trigger. This method successfully delineated the myocardium from noncontractile tumor, providing information that influenced clinical management. This RF tagging technique allowed us to confirm the exact intramyocardial location of a congenital cardiac tumor.

Female↗
PubMed1987

Surgical excision of primary cardiac tumours in infancy.

Six cases of primary cardiac tumour have been operated upon in a 7 year period from 1 June 1979 until 1 June 1986. All patients were under 6 months of age at the time of operation and two of the patients were in their first week of life. The principal indication for surgery was obstruction mainly at the right or left ventricular outflow tract level. More recently echo evaluation alone has been adequate to define the problem prior to surgery. Surgical excision has been performed without mortality or significant complications. In most cases resection has been complete, although in one case residual tumour has been left because of attachment of the tumour to vital structures. Follow-up of this case has not resulted in further surgery being required because of regrowth of the tumour. In one case, with co-existent congenital heart disease, the tumour was brought to notice after palliative systemic to pulmonary artery shunt had been performed. From the cardiac view point gratifying results have been obtained both in the short and long term following surgical resection. However, for patients with rhabdomyoma, later development of symptomatic tuberosclerosis should be anticipated in 50% of cases.

Dysgerminoma↗
PubMed1980

Tuberous sclerosis presenting as diaphragmatic hernia in a newborn.

A case of tuberous sclerosis in a preterm newborn baby is described, in whom there were also multiple rhabdomyomas of heart, diaphragmatic hernia, giant-cell astrocytoma of lateral ventricle and malrotation of the intestine. This is the first report of an association of tuberous sclerosis with diaphragmatic hernia. The presence of multiple congenital malformations supports the theory that tuberous sclerosis represents multi-germ layer dysplasia.

Astrocytoma↗
PubMed1998

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome.

This report highlights the association between tuberous sclerosis and Wolff-Parkinson-White syndrome. Ten patients with concurrent diagnoses of Wolff-Parkinson-White syndrome and tuberous sclerosis were identified. Wolff-Parkinson-White syndrome presented early in life, nine cases being diagnosed in the first year. Eight of the 10 cases were male. In eight cases, the syndrome was associated with supraventricular tachycardias, and in nine with cardiac rhabdomyomata. One child died from cardiac failure secondary to obstruction of the left ventricular outflow tract by a rhabdomyoma. Five of nine survivors showed resolution of Wolff-Parkinson-White syndrome on follow up. The accessory pathway was localised in nine patients from surface electrocardiograms: six children had left sided pathways and three had right sided pathways.

Electrocardiography↗
PubMed1984

Transient asymmetric ventricular septal hypertrophy in the newborn unassociated with maternal diabetes.

Severe hypertrophy of the interventricular septum was found by echocardiography in a 15 day old infant without symptoms whose mother was not diabetic. The electrocardiogram showed pronounced intraventricular conduction disturbances. Both echocardiographic and electrocardiographic findings showed no abnormality after 27 months, the explanation for which could be the spontaneous regression of an intracardiac rhabdomyoma.

Cardiomyopathies↗
PubMed1997

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.

We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of them and showed the typical findings of tuberous sclerosis complex (TSC) in the central nervous system (CNS), kidneys, heart, and liver. The fourth sib, currently 2 years old, also has typical signs of TSC, namely hypomelanotic skin macules and calcified subependymal nodules. Both parents and a living maternal grandmother had appropriate examination, which included skin inspection under Wood's lamp, dental examination, fundoscopy, echocardiography, abdominal and renal ultrasound, and head CT and MRI scans, and no signs of TSC were found in either parent or in the only living grandmother. By history alone there is no other relative with signs or symptoms suggestive of TSC. Linkage analysis and loss of heterozygosity (LOH) investigations on a variety of lesions obtained from postmortem and tissue or blood specimens from all available family members studied failed to identify a microdeletion in the chromosomal regions where TSC genes are located. It is very unusual that in a single TSC family there were three consecutive neonatal deaths, and very likely that all had cardiac rhabdomyomas. Moreover, to the best of our knowledge, there are no previous reports of TSC families with more than one affected sib, unusually severe manifestations of the disease, and completely normal, consanguineous parents.

Child, Preschool↗
PubMedDate not supplied

Primary cardiac and pericardial neoplasms: radiologic-pathologic correlation.

Primary cardiac and pericardial neoplasms are rare lesions and include both benign and malignant histologic types. Myxoma is the most frequent primary cardiac neoplasm, but other benign tumors include papillary fibroelastoma, rhabdomyoma, fibroma, hemangioma, lipoma, and paraganglioma. Cardiac sarcoma represents the second most common primary cardiac neoplasm. Lymphoma can also affect the heart primarily. Pericardial tumors that affect the heart include benign teratomas and malignant mesotheliomas. Patients affected with cardiac or pericardial neoplasms often present with cardiovascular compromise or embolic phenomena and exhibit cardiomegaly at chest radiography. Benign cardiac tumors typically manifest as intracavitary, mural, or epicardial focal masses, whereas malignant tumors demonstrate invasive features and may involve the heart diffusely. Benign lesions can usually be successfully excised, but patients with malignant lesions have an extremely poor prognosis.

Diagnostic Imaging↗
PubMed1981

Primary heart tumors in infancy and childhood. Report of four cases and review of literature.

Primary heart tumors are rare. The findings in 4 children with heart tumors are reported: a rhabdomyosarcoma, a rhabdomyoma, a fibroma and a myxoma. The symptoms depend upon the location (intrapericardial, intramural or intracavitary). ECG and X-ray provide no essential diagnostic information; echocardiography can give a decisive diagnostic indication in parietal and intracavitary tumors. Surgery provides a specimen for histology, but the tumor cannot always be removed. The prognosis, therefore, depends upon the result of surgery, but malignant tumors, mostly being diagnosed too late, have a very bad prognosis.

Arrhythmias, Cardiac↗
PubMed1997

Significant coincidental findings at autopsy in accidental childhood death.

Three cases of unexpected childhood death are presented in which significant potentially life-threatening lesions were identified that were considered coincidental to the cause of death. Two children died of accidental asphyxia and one died of potassium fluoride poisoning. Abnormalities identified at autopsy included established myocarditis (two cases) and cardiac rhabdomyomas (one case). In one case a previously unsuspected abnormal familial karyotype was found. These cases emphasize the value of complete autopsy investigations in all types of sudden childhood death, even when the cause of death appears obvious; they also demonstrate that potentially lethal organic disease may be asymptomatic in childhood and unrelated to death.

Asphyxia↗
PubMed1994

Tuberous sclerosis--an unusual cause of seizures in an 18 year old.

An 18 year old man presenting with seizures was found to have hypomelanotic macules and a cardiac rhabdomyoma. These features suggested a diagnosis of tuberous sclerosis (TS) but there were no other clinical signs, no family history and cranial imaging failed to reveal the characteristic appearances. The diagnostic criteria for TS are reviewed and the importance of thorough clinical examination and appropriate investigation in this disease is stressed.

Adolescent↗
PubMed1984

Connatal brain tumors in patients with tuberous sclerosis.

Two neonates with tuberous sclerosis and giant cell astrocytomas diagnosed soon after birth are described. During attempted surgical resection of their tumors, both infants developed refractory intraoperative cardiac arrhythmias and died. At autopsy, both patients had multiple cardiac rhabdomyomas. Subependymal giant cell astrocytomas rarely present in the neonate, but genetic implications and associated cardiac hamartomas warrant special consideration of these connatal tumors. Surgical considerations suggest that an operative approach to these tumors should be delayed beyond the neonatal period.

Astrocytoma↗
PubMed2001

Surgical treatment of primary cardiac tumors: 28 years' experience in Kanazawa University Hospital.

To examine the clinical features of primary cardiac tumors, 34 patients who underwent surgical treatment from 1973 to 2000 at the Kanazawa University Hospital were analyzed and the literature was reviewed. The 34 patients were divided into 3 categories: (i) myxomas; (ii) benign non-myxomas; and (iii) malignant tumors. Twenty-three patients (70%) were diagnosed with myxomas, including 22 left atrial myxomas and 1 right atrial myxoma. Seven patients (18%) were diagnosed with benign non-myxoma tumors, including 3 hemangiomas, 1 fibroma, 1 rhabdomyoma, 1 pheochromocytoma, and 1 lipoma. Four patients (12%) were diagnosed with malignant tumors, including 2 angiosarcomas, 1 rhabdomyosarcoma, and 1 malignant fibrous histiocytoma. Among the myxoma patients, in-hospital mortality was 9% (2/23), late mortality was 10% (2/21), and no recurrent myxomas have been identified. Among benign non-myxoma patients there were no perioperative deaths; however, 1 patient died 11 years after surgery, with no linked cause. No recurrent tumors have been identified. Among malignant tumor patients, 1 patient died the day following surgery and the rest died within 14 months. Early and late results of surgery were acceptable for those patients with benign tumors, while the prognosis for patients with malignant tumors was very poor.

Adolescent↗
PubMed1978

Echocardiographic evidence of left ventricular tumor in a neonate.

We present the case of a ten-hour-old infant with clinical findings suggestive of hypoplastic left-heart syndrome. A diagnosis of left ventricular tumor was made by echocardiographic examination. This diagnosis was confirmed at autopsy, when a large rhabdomyoma was found in the interventricular septum, obliterating the major portion of the left ventricular cavity. The echocardiographic findings are discussed.

Autopsy↗
PubMed1990

Multivisceral dysplastic lesions in a patient with tuberous sclerosis and Langerhans cell histiocytosis.

Collections of large cells and smaller satellite-like cells arranged in an autonomic ganglion-like pattern and resembling the white matter lesions of tuberous sclerosis were found in the thymus, lungs, liver, appendix, and heart of an 8-month-old infant who exhibited other pathologic findings of tuberous sclerosis (rhabdomyomas of the heart and multiple kidney cysts). Focal cytoplasmic staining for S-100 and GFAP was noted in some large cells, suggesting neural (probably schwannian) differentiation. Dysplastic neurogenic foci appearing in internal organs may represent another morphologic marker of tuberous sclerosis. The simultaneous presence of Langerhans cell histiocytosis produced an unusual combination not previously reported.

Appendix↗