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PubMed2005

Rhabdomyoma of the head and neck: morphology and differential diagnosis.

Rhabdomyomas of the head and neck are exceptionally rare benign mesenchymal tumors. Although histology is very characteristic, several differential diagnoses have to be considered. We investigated five patients with extracardiac rhabdomyoma of the head and neck (median age 65.9 years), four of them presenting with adult rhabdomyoma (AR) and one with fetal rhabdomyoma (FR). We analyzed the histological findings, with special regard to separation from hibernoma (two patients) and granular cell tumor (GCT; six patients, median age 31 years). Both FR and AR showed polygonal eosinophilic cells with peripherally or centrally localized nuclei and cross striations, while in hibernoma, multivacuolated cells with centrally localized nuclei were detected. In GCT, polygonal eosinophilic cells with granular periodic-acid-Schiff-positive cytoplasm were found; in one case, atypical GCT with increased pleomorphism and mitotic rate was observed. Pseudoepitheliomatous hyperplasia occurred both in FR and GCT. Immunohistochemically, rhabdomyomas were strongly positive for myogenic markers (desmin, actin, and myoglobin) but negative for S-100, while hibernoma and GCT strongly expressed S-100. Concerning the differential diagnosis of rhabdomyoma, GCT has to be especially considered since this tumor can undergo malignant transformation.

Adolescent↗
PubMed1979

Adult rhabdomyoma of soft palate.

A case of adult rhabdomyoma of the soft palate in a 60-year-old man studied by methods including electron microscopy, is reported. The patient was free of recurrence 2 years later. The eleven previously documented cases of adult rhabdomyoma involving the oral cavity are reviewed. The concept that rhabdomyoma is a neoplasm rather than a hamartoma is favored. Adequate local excision appears to be curative. The differences between the cardiac and extracardiac forms of rhabdomyoma as well as between adult rhabdomyoma and especially granular-cell myoblastoma and fetal rhabdomyoma are presented.

Cell Membrane↗
PubMed1990

Rhabdomyoma of the cricopharyngeus in an infant.

Rhabdomyoma is a rare benign tumor characterized histologically by striated skeletal muscle. Rhabdomyomas can be classified into adult and fetal variants. The majority of adult variants arise in the head and neck region and are derived from the skeletal muscles of the pharyngeal (branchial) arches. The majority of cases of fetal variant rhabdomyomas have been described in the postauricular region of young children and the vulvovaginal region in middle-aged women. We present a case of a 15-month-old infant with a circumferential rhabdomyoma of the cricopharyngeus muscle requiring excision of the esophageal inlet and reconstruction with a free microvascular jejunal interposition graft. This case represents the youngest reported case of adult variant rhabdomyoma. The clinical, radiographic, and histologic findings of this unusual case and a review of reported cases of rhabdomyoma in the pediatric population will be presented.

Cricoid Cartilage↗
PubMed1984

Cardiac rhabdomyoma in the neonate: surgical management.

Rhabdomyoma is the most common cardiac neoplasm in neonates. Tuberous sclerosis is found in half of the patients with rhabdomyomas. We maintain a surgical policy of accepting for operation only neonates in whom it has been demonstrated that the primary cause for hemodynamic compromise is obstructing, intracavitary neoplasms. Only the intracavitary portions of the rhabdomyoma are excised; no effort is made to completely remove all intramural tumors. Rhabdomyomas demonstrate benign pathological characteristics and may regress. Neonates with rhabdomyomas but no hemodynamic impairment, or those in whom only intramural masses can be demonstrated, are not considered surgical candidates. Tuberous sclerosis by itself should not be judged a contraindication to operation. The results of our surgical policy regarding rhabdomyomas in neonates are reported in two case presentations.

Cardiac Catheterization↗
PubMed1978

Presence of satellite cells in a cardiac rhabdomyoma.

Cardiac rhabdomyoma is the most common tumour of the heart in infancy and childhood. The clinical presentation, diagnosis and histopathological characteristics have been extensively studied; however, reports on the ultrastructure and histogenesis of this lesion are scanty and inconclusive. The case to be discussed is that of a 10-year-old male who presented with a cardiac rhabdomyoma occupying almost the entire ventricular apex. Ultrastructurally, the rhabdomyoma cells have a central, deeply-indented nucleus surrounded by an admixture of mitochondria and sarcomeres. The remainder of the cytoplasm is occupied by pools of glycogen granules, randomly-orientated myofibrils and small mitochondria. Intercellular junctions are numerous and consist of alternating zonula occludens and macula adherens. Typical satellite cells, sharing a common basement lamina are seen apposed to the rhabdomyoma cells. It is tempting to postulate that the proliferation of the rhabdomyoma cells is accomplished by differentiation of satellite cells, a process known to occur in skeletal muscle. Ultrastructurally, the rhabdomyoma cells are indistinguishable from Purkinje cells. The presence of Purkinje-like cells in ectopic locations within the heart and their association with satellite cells is likely a form of embryological atavism.

Child↗
PubMed1994

Extracardiac rhabdomyomas.

Extracardiac rhabdomyomas are divided into three subtypes: adult rhabdomyomas (ARs), fetal rhabdomyomas (FRs) and genital rhabdomyomas (GRs), each of which has characteristic clinicopathologic features that facilitate their diagnosis. Rhabdomyomas are invariably benign and show varying degrees of skeletal muscle differentiation by electron microscopy and immunohistochemistry. The etiology of these lesions is not understood; however, there is cytogenetic evidence to indicate that ARs are probably neoplastic in origin. The differential diagnosis of rhabdomyomas includes granular cell tumors and hibernomas for ARs, rhabdomyosarcomas and fibromatosis for FRs, and sarcoma botryoides and vaginal polyps for GRs. Identification and investigation of these lesions provide opportunity for gaining insight into skeletal muscle tumor differentiation and skeletal-muscle tumors in general.

Adolescent↗
PubMed1993

Juvenile rhabdomyoma. An intermediate form of skeletal muscle tumor in children.

Two tumors of the buccal soft tissues in children with rhabdomyomatous features are described and further characterized by immunohistochemical studies in both cases and by electron microscopy in one case. Discrete microscopic nodules of elongated, uniform spindle cells with readily identifiable cytoplasmic cross striations replaced existing normal skeletal muscle. In contrast to fetal rhabdomyoma and embryonal rhabdomyosarcoma, there were no immature mesenchymal cells, nor were there individual rhabdomyomatous cells with short, tapered cytoplasmic processes and overtly malignant cytologic features, including mitotic activity. Following excision, one child remains well 46 months later and the other is doing well 7 months after surgery. Some confusion has been created in the literature by the introduction of the terms cellular rhabdomyoma and myxoid fetal rhabdomyoma. We propose that the so-called cellular fetal rhabdomyoma is distinct from the classic fetal rhabdomyoma and may represent the more differentiated juvenile rhabdomyoma.

Actins↗
PubMed1990

Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.

Cardiac rhabdomyoma, a rare benign tumor often detected in infancy, is frequently associated with tuberous sclerosis. This association is commonly stated to occur in 50% of all cases of cardiac rhabdomyoma. Recently at our institution, the prenatal detection of a cardiac rhabdomyoma in a fetus at no known risk for tuberous sclerosis emphasized the need to determine the frequency of association in order to provide accurate diagnosis and counseling in such situations. After a review of reported cases and review of patients from our institution diagnosed to have cardiac rhabdomyoma, we estimate that 51-86% of cardiac rhabdomyomas are associated with tuberous sclerosis. We present the results of our literature and case review.

Female↗
PubMed2001

Cardiac rhabdomyomas exhibit a fetal pattern of atrial natriuretic peptide immunoreactivity.

Rhabdomyomas are the most common heart tumors seen in infancy. However, whether they represent hamartomas or true neoplasms derived from cardiomyocytes is still controversial. The fetal pattern of atrial natriuretic peptide (ANP) expression (predominant in the atrial and ventricular subendocardium) becomes altered during the early postnatal period to that typical of the adult (all atrial cardiomyocytes and some cells in the ventricular impulse-conducting system). To better comprehend the nature and origin of cardiac rhabdomyomas, we investigated the immunohistochemical expression of ANP in seven surgically excised ventricular specimens and two necropsy cases of multiple, atrial, and ventricular rhabdomyomas in children aged 1 to 34 days. Immunogold labeling for ANP at the ultrastructural level was also performed on three ventricular tumors. Although all atrial tumors were immunoreactive for ANP, these usually showed a variable number of faintly positive cardiomyocytes, contrasting with the diffuse and intense immunoreactivity of the surrounding atrial myocardium. ANP was detected in the ventricular tumors of five (56%) of the nine cases. The positive ventricular tumor cells predominated in the subendocardium and areas with prominent fibrous tissue, usually around blood vessels. Immunoelectron microscopy of the ventricular tumors demonstrated rare, positive cytoplasmic granules surrounded by membranes, usually located near the nuclei. We conclude that cardiac rhabdomyomas exhibit a fetal pattern of ANP immunoreactivity, which suggests delayed maturation of the tumoral cardiomyocytes, reinforcing the notion that cardiac rhabdomyomas are fetal hamartomas.

Atrial Natriuretic Factor↗
PubMed1976

Cardiac rhabdomyoma: a clinicopathologic and electron microscopic study.

Cardiac rhabdomyomas are rare tumors of infancy. In a series of 36 patients 78 percent were under 1 year of age, and only one patient was over age 15 years. Ninety percent of the rhabdomyomas were multiple and occurred with nearly equal frequency in the right and left ventricles. Although reportedly infrequent in the atria, rhabdomyomas involved either one or both atria in 30 percent of patients. In 50 percent of patients at least one of the tumor masses was intracavitary and obstructed 50 percent or more of one of the cardiac chambers or valve orifices. Symptoms referable to obstruction of intracardiac blood flow were present in nine patients, none of whom had tuberous sclerosis, and all of whom would appear to have been good surgical candidates. Histologically the rhabdomyomas were composed of classic "spider cells". Electron microscopic studies revealed scattered bundles of myofibrils ringing these cells and radiating toward the center; glycogen was present both free in the cytoplasm and within mitochondria. Distinct intercellular junctions resembling intercalated discs with well defined desmosomes and nexuses were present. Many of the cells contained leptofibrils, arranged either peripherally or in spiraled clusters in the center of the cell. Rhabdomyomas derive from cardiac muscle cells and appear to represent hamartomas rather than true tumors.

Adult↗
PubMed1985

Echocardiographic incidence of cardiac rhabdomyoma in tuberous sclerosis.

Cardiac rhabdomyoma occurs frequently in patients with tuberous sclerosis (TS). Although there have been case reports of detection of cardiac rhabdomyoma by 2-dimensional echocardiography, no study has examined the frequency of cardiac rhabdomyoma detected by cardiac ultrasound in patients with TS. Echocardiography was performed in 16 consecutive patients with TS. Physical examination revealed normal cardiac findings in each. Discrete areas of increased acoustic density were found in 8 of the 16 patients (50%). The maximum diameters ranged from 3 to 20 mm. Multiple areas were found in 3 of 8. The left ventricle was involved in 5 of the 8. Six masses were intracavitary and 8 were intramyocardial. No atrial masses were seen. Left ventricular size and function were normal. Although other tumors cannot be excluded, the diagnosis of cardiac rhabdomyoma is almost certain in these young patients with TS. The male predominance and the high incidence of intracavitary and left ventricular masses are similar to those in reported autopsy series, also supporting the diagnosis of cardiac rhabdomyoma. The prognosis and potential for growth of these masses are not known, but can be determined by longitudinal follow-up. Cardiac ultrasound should be considered for all patients with TS regardless of physical findings.

Adolescent↗
PubMed2006

Recurrent fetal rhabdomyoma of the head and neck.

We present a case of a congenital fetal rhabdomyoma which recurred after surgical excision. A review of the patient's chart, imaging studies, operative reports and histologic findings were conducted. A congenital fetal rhabdomyoma involving the head and neck region diagnosed prenatally by ultrasound and MRI was surgically excised without complications. The patient presented with recurrence of the tumor fourteen months after the initial surgery. This case report is supplemented with a review of the relevant literature on congenital fetal rhabdomyoma. This is the fifth documented case of recurrence of a fetal rhabdomyoma. Extracardiac rhabdomyomas are extremely rare benign tumors. Complete excision of these lesions is curative with only a handful of recurrences documented in the literature. Close follow up and a complete workup to rule out rhabdomyosarcoma is warranted in all cases of recurrence.

Female↗
PubMed2006

Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis.

Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI) at 36 weeks' gestation showed cardiac rhabdomyomas and small subependymal tubers. At 39 weeks' gestation, a 2,262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830G >A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan) to TGA (stop codon). The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling.

Adult↗
PubMed2005

Evaluation of cardiac tumors in children by electron-beam computed tomography: rhabdomyoma and fibroma.

BACKGROUND: The most common cardiac tumors in young children are rhabdomyoma and fibroma, and prognosis depends on the tumor's characteristics. In the present study electron-beam computed tomography (EBT) was used to evaluate tumor characteristics and myocardial perfusion in 6 children with cardiac tumors. METHODS AND RESULTS: Five children had rhabdomyomas and 1 had a fibroma. In the precontrast study, the computed tomography numbers of rhabdomyomas were higher and those of the fibroma were slightly lower than those of the normal myocardium. In the early postcontrast study, the size, location, shape and number of the tumor were clearly detected, and in the late postcontrast study, the fibrous characteristics of the tumor were seen. The fibroma contained calcification and 2 rhabdomyomas contained a fat density spot. In the cine-mode study, both the tumor and ventricular wall motion could be simultaneously evaluated. There was a filling defect of the left ventricular myocardium on the early postcontrast scan of 1 child with a rhabdomyoma and dyskinetic wall motion at the same region in the cine-mode study. CONCLUSION: EBT was useful for evaluating tumor characteristics in children.

Child↗
PubMed2004

Congenital fetal rhabdomyoma in a foal.

An Appaloosa filly was born with a ventral midline, approximately 8 x 12 x 15 cm subcutaneous cervical mass. The nonencapsulated mass was composed of interlacing and haphazard bundles of spindle cells on moderate to abundant loose myxomatous stroma. A moderate number of cells showed cross striations with minor nuclear variation and a low mitotic rate. Immunohistochemical staining for myoglobin, desmin, actin, vimentin, and S-100 was positive and negative for glial fibrillar antigen and keratin. Rhabdomyomas are rare benign tumors of striated muscle. Rhabdomyomas described previously in the veterinary literature are analogous to the "adult form" of human rhabdomyoma. This is the first report of a veterinary case that 1) clinically and histologically parallels the "fetal form" in human rhabdomyoma and 2) describes a congenital extracardiac rhabdomyoma.

Animals↗
PubMed2000

[Cardiac rhabdomyomas in tuberous sclerosis: clinical symptoms and course in 18 cases diagnosed in childhood].

OBJECTIVE: Tuberous sclerosis is a neurocutaneous syndrome with autosomal dominant inheritance. The reported incidence is 1:10000. Recent echocardiographic studies showed a 50% to 64% incidence of cardiac rhabdomyomas in patients with tuberous sclerosis. The objective is to assess the history of cardiac rhabdomyomas in infants and children with tuberous sclerosis. METHODS: From 1970 to 1998, 39 patients were diagnosticated of tuberous sclerosis. Cardiac rhabdomyomas were present in 18 of them, 9 girls and 9 boys. Ecocardiografic follow up ranged from 1 month to 14 years. RESULTS: Echocardiographic studies showed rhabdomyomas located in the interventricular septum, ventricles, right and left atrium. A newborn, had subaortic obstruction related to a tumor who precised surgery excision. Standard electrocardiogram showed different disturbances: premature auricular and ventricular contractions, conduccion disturbances and pre-excitation syndromes. Two patients, both neonates, had severe arrhythmias, one of them debuted with supraventricular tachycardia due to an accessory hidden left atrio-ventricular pathway who undergone successful radiofrequency ablation; and the other patient was diagnosticated prenatally of fetal complete heart block and precised permanent pacemaker at birth. After a follow up of 5.1+/-4.5 years, spontaneous regression of the tumors was shown in 12 of the 18 patients with complete resolution in two of them. All of them are asymptomatic nowadays. CONCLUSIONS: Our findings confirms that cardiac rhabdomyomas are most often a benign condition in which spontaneous regression is the rule and surgery is only recommended for patients with life threatening obstruction or refractory disrhythmias in the neonatal period when the tumor size is maximum.

Adolescent↗
PubMed2001

Cardiac rhabdomyomas presenting in neonates.

UNLABELLED: Rhabdomyoma is the most common cardiac neoplasm in neonates. Spontaneous regression of such tumors is common, particularly with smaller lesions, followed by resolution of symptoms. Because most of the tumoral masses regress spontaneously, treatment should primarily be symptomatic, while surgical removal is required only in life-threatening situations. Tuberous sclerosis is found in half of the patients with rhabdomyomas. AIM: The aim of our work was to analyze the cases of rhabdomyoma with neonatal presentation in our hospital. METHODS: A retrospective review was performed of the hospital records (cardiovascular examination, radiologic and echocardiographic findings, association with tuberous sclerosis, treatment and follow-up) of all neonates admitted, during the last 12 years, with the diagnosis of rhabdomyoma. RESULTS: Six patients were found. All diagnoses were established during the first month of life. One third of our population had associated tuberous sclerosis. In three cases the tumors were multiple and the preferential location was the left ventricle. In only one case was surgical removal indicated because of the presence of life-threatening symptoms but the infant's parents refused consent for the procedure. All the children had regression of the tumoral masses. CONCLUSIONS: The natural history of rhabdomyomas is one of spontaneous regression with surgical excision being recommended only in the presence of life-threatening symptoms.

Heart Neoplasms↗
PubMed2002

Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports.

BACKGROUND: Fetal cardiac rhabdomyoma is very rare; despite the fact that many cases and series have been reported, the clinical presentation, the natural history and the frequency with which this pathology is associated with tuberous sclerosis complex are not well determined. The aim of this investigation was to study the clinical features and the natural history of cardiac rhabdomyoma when diagnosed during prenatal life. METHODS: Nine cases of cardiac rhabdomyoma detected among 5276 fetal echocardiograms recorded over a 10-year period in a single center were retrospectively reviewed. Medical records and echocardiograms were studied to determine the prenatal and postnatal course and outcome. RESULTS: The incidence of cardiac rhabdomyoma in our center was 0.17%. The gestational age at diagnosis ranged from 27 to 36 weeks. The most common reason for fetal echocardiography was an abnormal obstetric ultrasound scan (6/9 cases). In no case was there a family history of tuberous sclerosis. In one case, the tumor was single whereas in 8 cases multiple tumors were diagnosed. During prenatal life the majority of tumors were clinically silent. One fetus died of hydrops and arrhythmia. Four children presented with arrhythmia postnatally and one required surgery. At a mean follow-up of 47 months, total or partial regression was observed in 7 patients. Seven patients developed postnatal clinical signs of tuberous sclerosis. CONCLUSIONS: Fetal cardiac rhabdomyomas are often benign and have a tendency to regress, but their prognosis is guarded due to very frequent association with arrhythmias and tuberous sclerosis. During prenatal counseling, it is of utmost importance to inform the future parents of the virtually constant perspective of tuberous sclerosis complex.

Arrhythmias, Cardiac↗