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Adult rhabdomyoma is an exceedingly uncommon tumor in the head and neck. We present a case localized to the left parapharyngeal area in a 57-year-old woman. The various diagnostic measures used are discussed. Surgical removal is the treatment of choice.
To determine whether cardiac rhabdomyoma (CR) is a hamartoma of fetal cardiac myocyte, we investigated five cases of CRs that spontaneously developed in five 6-month-old hybrid swine with histological, immunohistochemical, and ultrastructural techniques. The cases were four multiple and one solitary neoplasms, which appeared as intraventricular nodules of various sizes without any congenital malformations. Histologically, the large ovoid CR cells with an occasional spiderweb appearance showed a transition from normal-looking cardiac myocytes or rarely from Purkinje cells, but no mitotic figures. Besides large amounts of glycogen, the CR cells contained many PAS-negative, large cytoplasmic vacuoles filled with eosinophilic or fibrillar substance. Immunohistochemically, the CR cells showed intense positivity for desmin and variable positivities for vimentin, alpha-atrial naturiuretic peptide, and proliferating cell nuclear antigen. These positivities were not seen in adjacent cardiac myocytes. Cytokeratin was negative in the CR cells but was positive in fetal cardiac myocytes of early gestation. Rod-like or granular positivity for alpha-actinin in the CR cells was similar to that in nemaline myopathy. Ultrastructurally, the CR cells contained myofibrils that frequently showed myofibrillar degeneration and produced large intracytoplasmic vacuoles. These myofibrils often mingled with nemaline bodies and leptofibrils that continued to the Z bands. T-systems, sarcoplasmic reticulum, and intercalated discs, which are specific features of postnatal cardiac myocytes, were sometimes observed in the CR cells. Increase of glycogen and mitochondria and appearance of atrial-specific granules associated with the Golgi apparatus were other features noted. The present findings have not been reported, even in human CR. From these new observations with the recent report on the occurrence of CR in neonatal piglets, swine CR does not belong to the entity of hamartoma but may be a congenital dysplasia of the perinatal cardiac tissues with myofibrillar degeneration, affecting mainly cardiac myocytes and rarely Purkinje cells. The various immunophenotypic changes including proliferating cell nuclear antigen and the increase and appearance of cytoplasmic elements compared with mature cardiac myocytes can be interpreted as reactive or regenerative changes due to myofibrillar degeneration.
A case of rhabdomyoma of the larynx in a 76-year-old woman patient is reported. The tumor was localized on the left vocal cord. This case is, so far described, the seventh one of adult rhadbomyoma of the larynx. The differential histological and histochemical diagnosis with granular cell myoblastoma is discussed and tabulated. Both tumors can easily be confused. In accordance with previously reported cases no evidence of recurrence after more than two years could be observed.
A case of primary cardiac tumor with hypoplastic left heart syndrome (HLH) is presented. Sonographic examination at 32 weeks' gestation revealed a large tumor in the left ventricle of the fetal heart. The newborn died of congestive heart failure at 11 days of age. Autopsy demonstrated a large tumor in the left ventricle obliterating most of the left ventricular cavity, aortic atresia, and hypoplastic ascending aorta. Microscopically, the cardiac tumor showed "spider-cells" characteristics of rhabdomyoma.
A cardiac tumor was diagnosed by two-dimensional (2D) echocardiography in a four-month-old infant who also had congenital mitral regurgitation. At 18 months of age, histological examination of a biopsy specimen of the cardiac tumor, obtained during surgery for mitral valve replacement, revealed a rhabdomyoma. In serial postoperative 2D echocardiograms, this tumor decreased in size until total disappearance after 6 months.
Fetal hydrops and possible congenital heart disease with atrioventricular block was diagnosed one day before birth in a male infant of 35 weeks' gestation. Echocardiography and angiocardiography soon after birth revealed a cardiac tumor. The child died three days after birth. Necropsy showed tuberous sclerosis involving the heart (type-I rhabdomyoma), kidneys, retina, and central nervous system.
Adult extracardiac rhabdomyomas are rare benign skeletal muscle tumors that most commonly present in the head and neck region. Only a few multifocal cases have been described to date in the world literature. We hereby present an additional multifocal case, the 14th worldwide, and review the literature.
A neutered male mixed breed dog, with a history of progressive dyspnoea, was presented for surgical removal of an enlarging lingual neoplasm (60 x 40 x 70 mm), previously diagnosed as a granular cell tumour. Microscopically the excised neoplasm comprised sheets of pleomorphic cells; large granular eosinophilic cells, multinucleated giant cells and smaller angular cells. A tentative diagnosis of rhabdomyoma was based on the light microscopic changes. This diagnosis was confirmed by the ultrastructural identification of bundles of intracytoplasmic filaments (interpreted to be myosin) within the neoplastic cells and the strong positive reaction of these cells to markers for "muscle-specific" actin (HHF35).
A case of vaginal rhabdomyoma in 35-year-old healthy woman is presented. The lesion, a pedunculated polyp measuring 1.2 cm in diameter, was located in the anterior wall of the vagina. This is an extremely rare entity that pursues a benign course. Light and immunohistochemical features are commented and selected literature briefly reviewed.
Twenty-four fetal rhabdomyomas (FRMs) of the head and neck occurring in 16 male and seven female patients (sex unknown in one), ranging from 3 days to 58 years of age (median, 4.5 years) are reported. Ten patients (42%) were < or = 1 year old, six lesions (25%) were congenital, and 11 lesions (46%) occurred in patients > or = 15 years of age. The median tumor size was 3.0 cm (range, 1.0 to 12.5 cm). The FRMs presented as well-defined, solitary masses arising within the soft tissue or mucosa (2:1) of the head and neck. The median follow-up in 15 cases was 48 months (range, 2 months to 52 years) after diagnosis. With the exception of one patient with a local recurrence, all patients were either alive and well or dead of unrelated causes. Eight cases, regarded as "classic" FRM, consisted predominantly of bland, primitive spindled cells associated with delicate, elongated skeletal muscle cells reminiscent of fetal myotubules that were haphazardly arranged in an abundant fibromyxoid stroma. The remaining 16 cases, designated as "intermediate" FRM, displayed both a greater degree and a greater number of cells with skeletal muscle differentiation as well as a variety of distinctive cytologic and architectural features. These included the presence of large, ganglion cell-like rhabdomyoblasts with vesicular nuclei and prominent nucleoli, interlacing ribbon or strap-like rhabdomyoblasts with deeply acidophilic cytoplasm, broad bundles of more delicate spindled rhabdomyoblasts arranged in fascicles simulating smooth muscle, an occasional plexiform pattern with infiltration of adipose tissue and skeletal muscle, focal intimate association with peripheral nerves, and rare areas of fibroblastic proliferation. Mitoses were not found in 19 of the 24 FRM cases, but in five tumors there were 1 to 14 mitoses/50 high-power fields. Marked nuclear atypia, anaplasia, and a "cambium layer" were uniformly absent. The FRMs typically stained for myoglobin, desmin, and muscle-specific actin with focal or rare staining for vimentin, smooth muscle actin, S-100 protein, glial fibrillary acidic protein, and Leu-7. Cytokeratin, epithelial membrane antigen, and CD68 antigen (with KP1) were not detected. This study expands on previous reports of FRM and demonstrates that it has both a broader age range and histologic spectrum than previously recognized. The mitotic rates of FRM as well as certain histologic features overlap with rhabdomyosarcoma; the lack of marked nuclear atypia is an important distinguishing feature.(ABSTRACT TRUNCATED AT 400 WORDS)
Twenty-seven cases of adult rhabdomyoma (ARM) of the head and neck are reported. The 20 male and seven female patients ranged in age from 33 to 80 years (median age, 60 years). Symptoms included airway obstruction and a mass within the mucosa or soft tissue. Median tumor size was 3.0 cm (range, 1.5 to 7.5 cm). Seven patients (26%) presented with multinodular tumors and one tumor was multicentric. Follow-up was available in 19 cases and ranged from 2 months to 18.5 years after diagnosis (median, 6.0 years). Lesions recurred locally in eight cases (42%) 2 to 11 years after diagnosis (median, 6 years). One recurrence was multicentric. Histologically, ARM was composed of closely packed, large polygonal cells having abundant, eosinophilic, granular, or vacuolated glycogen-rich cytoplasm with focal cross-striations. Immunohistochemical stains confirmed skeletal muscle differentiation; the majority of tumors stained for myoglobin (21 of 21 tumors), muscle-specific actin (21 of 21 tumors), and desmin (19 of 21 tumors). Focal or rare immunoreactivity for vimentin (six of 17 cases), alpha-smooth muscle actin (17 of 20 cases), S-100 protein (14 of 21 cases), and Leu-7 (10 of 20 cases) also was detected. Cytokeratin, epithelial membrane antigen, glial fibrillary acidic protein, and CD68 antigen (with KP1) were not found. The characteristic histology and immunophenotype distinguish ARM from other lesions with which it is frequently confused, including granular cell tumor, hibernoma, oncocytoma, and paraganglioma. The expression of alpha-smooth muscle actin has not been reported previously in ARM; its presence could reflect aberrant expression of smooth muscle actin in skeletal muscle or possibly be a recapitulation of early skeletal muscle embryogenesis.
An asymptomatic nineteen-year-old white man presented with a markedly enlarged and indurated prostate. Urologic evaluation including cystoscopy, prostatic ultrasound, pelvic computerized tomography (CT) scan, and pelvic nuclear magnetic resonance imaging revealed a prostatic mass impinging on the bladder. Transrectal biopsies returned the pathologic diagnosis of rhabdomyomatous hamartoma. We report the first case in the English literature of extracardiac rhabdomyoma found in the male genitourinary tract.
A 34-yr-old patient is presented who suffered from chronic pericardial effusion. Surgical exposure revealed a right atrial rhabdomyoma.
A rare case of single, pedunculated, ball-like rhabdomyoma of the pulmonary valve, causing moderate right ventricular outflow obstruction in an infant with tuberous sclerosis, is presented. The diagnostic and surgical implications are discussed.
Extracardiac rhabdomyomas are rare benign tumours. A case of a 74-year-old male with a lesion affecting the submandibular region is presented. Fine-needle aspiration biopsy material was mistakenly reported as part of a pleomorphic adenoma. The lesion has not recurred 1 year after conservative excision.
In spite of the development of modern imaging, most lesions of tuberous sclerosis (TS) remain difficult to detect before birth. Particularly, brain involvement at a fetal stage of development is poorly documented. We report three cases of fetuses examined after pregnancy was interrupted because of the detection of cardiac rhabdomyoma. In two of the three cases there were brain lesions suggestive of TS, including cortical tubers, subependymal nodules and scattered bizarre giant cells in the white matter. These observations confirm that brain lesions of TS can be present before birth; they can show, at an early period of development, an aspect quite similar to lesions described at an adult stage. The most characteristic cell abnormality is the so-called balloon cell. The majority of these cells exhibit a strong immunoreactivity with glial antibodies (GFAP, vimentin, S100). Immunoreactivity with neuronal markers (synaptophysin) is present in a small percentage of balloon cells.
A rare case of a rhabdomyoma originating from the surface of the right atrium in a 20-year-old female is reported. The tumor showed electrical activity and caused both outflow obstruction and tamponade symptoms. It was successfully removed by a right-sided thoracotomy. The clinical course, diagnostic investigations, and the therapeutical approach of this rare lesion are discussed.
The fifth case of paratesticular rhabdomyoma is described in a 55-year-old man. The histology revealed a tumor consisting of round or spindle cells, with deeply acidophilic cytoplasm and cross striations. An inguinal resection was performed, and the patient is well with no local recurrence or metastasis 13 months after surgery.