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At least 19 recordsLinked to original sources
PubMed1983

Rhabdomyoma of the eyebrow region: a light- and electron microscopic study of a recurrent rhabdomyoma of fetal type.

A rhabdomyoma in the region of the right eyebrow in a 9-year-old boy is reported, which recurred 7 months after surgery. A local excision was performed, and the patient is free of disease 6 years later. Rhabdomyomas are exceedingly rare tumors. Hitherto only three unequivocal cases of orbital rhabdomyomas have been observed. A rhabdomyoma of the eyebrow region has to our knowledge not been described. Local excision is sufficient. In particular, a differential diagnosis of rhabdomyosarcoma has to be excluded.

Child↗
PubMed1995

Rhabdomyoma of the larynx: a review of the literature with a summary of previously described cases of rhabdomyoma of the larynx and a report of a new case.

A review of extracardial rhabdomyomas of the larynx reported in the literature is presented. A new case is added (the largest described yet). The diagnosis was based on routine histological and immunohistological staining, and electron microscopy. The extracardial rhabdomyomas were divided into three types according to histopathological findings: (i) adult; (ii) foetal cellular type; and (iii) foetal myxoid. There are 23 well-documented cases (including this case) of extracardial rhabdomyomas of the larynx; 15 of the adult type, four of the foetal myxoid type and four of the foetal cellular type. The differential diagnosis and the requisite diagnostic procedure is discussed. The tumour is benign. The treatment is surgical excision. Although rare, its existence should be kept in mind in the differential diagnosis of laryngeal tumours.

Diagnosis, Differential↗
PubMed1991

Is fetal cellular rhabdomyoma an entity or a differentiated rhabdomyosarcoma? A study of patients with rhabdomyoma of the tongue and sarcoma of the tongue enrolled in the intergroup rhabdomyosarcoma studies I, II, and III.

A tumor of the tongue with features consistent with the diagnosis of fetal cellular rhabdomyoma was seen in an 18-month-old infant. The tumor recurred 10 and 22 months after initial resection. The histologic condition of the first recurrence was similar to the original tumor except for some increased nuclear irregularities and mitotic activity. No adjunctive therapy was administered initially or after the first recurrence. The second recurrence showed mixed embryonal/alveolar rhabdomyosarcoma. This case represented a unique model of a highly differentiated striated muscle tumor converting to a moderately differentiated rhabdomyosarcoma, and illustrated differential diagnostic difficulties in distinguishing between fetal cellular rhabdomyoma and differentiated rhabdomyosarcoma. The patient was compared with eight children and adolescents with primary sarcomas of the tongue who entered the Intergroup Rhabdomyosarcoma Studies (IRS) I, II, and III protocols. The tumors of all eight arose at the base of the tongue. There were five embryonal, one alveolar, and one mixed embryonal/alveolar rhabdomyosarcomas, and one undifferentiated myxoid sarcoma. Five rhabdomyosarcomas were poorly differentiated, and two had a moderate degree of myogenesis. These sarcomas of the tongue represent approximately 0.34% of all cases entered in IRS studies.

Biopsy↗
PubMed2000

Adult rhabdomyoma: report of two cases of rhabdomyoma of the lip and of the eyelid.

We describe two cases of adult rhabdomyoma. One was located in the lip of a 66-year-old woman and was removed because it was clinically suspicious for infiltrating carcinoma. The other arose in the eyelid of a 60-year-old woman with a glass eye and was initially interpreted as a reactive process due to the prosthesis. Both lesions were composed of cells with oval nuclei and deeply eosinophilic cytoplasms with occasional cross striations. Immunoreactivity for desmin and myoglobin excluded the diagnosis of other tumors with similar morphology. The unusual association of the eyelid tumor with the prosthesis suggests a role for chronic irritation in the pathogenesis of rhabdomyoma.

Aged↗
PubMed2006

Deregulation of the hedgehog signalling pathway: a possible role for the PTCH and SUFU genes in human rhabdomyoma and rhabdomyosarcoma development.

The naevoid basal cell carcinoma syndrome (NBCCS) is caused by mutations in the hedgehog receptor PTCH gene. It is characterized by developmental defects and a predisposition to the development of certain tumours, such as basal cell carcinoma, medulloblastoma and meningioma, and potentially fetal rhabdomyomas and embryonal rhabdomyosarcomas. This study aimed to analyse PTCH status in an NBCCS patient with fetal rhabdomyoma and to investigate whether deregulation of hedgehog signalling, as shown by altered expression of hedgehog pathway components and/or genetic imbalances, is a general finding in sporadic rhabdomyomas and rhabdomyosarcomas. The NBCCS patient had a novel PTCH germ-line mutation, 1370insT, and developed a fetal rhabdomyoma that harboured a 30 bp in-frame deletion in the second allele resulting in homozygous inactivation of PTCH. Sporadic rhabdomyomas and rhabdomyosarcomas showed overexpression of PTCH (43/43) and GLI1 (41/43) mRNA, as determined by in situ hybridization, indicating ongoing active hedgehog signalling. Immunohistochemical staining revealed a subgroup of fetal rhabdomyomas and embryonal rhabdomyosarcomas (12/34) lacking PTCH immunoreactivity. Four of nine informative fetal rhabdomyomas and embryonal rhabdomyosarcomas showed loss of heterozygosity (LOH) in the PTCH region with two of these (one fetal rhabdomyoma and one embryonal rhabdomyosarcoma) also showing LOH in the SUFU region. These findings suggest that haploinsufficiency for the two tumour suppressor genes PTCH and SUFU, which are both active in the same signalling pathway, may be important for tumour development. Based on our results we propose that the pathogenesis of rhabdomyoblastic tumours, particularly fetal rhabdomyomas and embryonal rhabdomyosarcomas, involves deregulation of the hedgehog signalling pathway.

Adolescent↗
PubMed1988

Cardiac rhabdomyoma. A case report with reference to atrial natriuretic peptide.

An autopsy case of cardiac rhabdomyoma in a male infant is reported. Many nodules of rhabdomyoma were present in all four cardiac chambers and were microscopically composed of ovoid, glycogen-laden cells and typical "spider cells". Atrial natriuretic peptide (ANP) was immunohistochemically demonstrated in both normal myocytes and rhabdomyoma cells of both atria, but not in normal myocytes and rhabdomyoma cells of both ventricles. Ultrastructurally, atrial specific granules were present in atrial rhabdomyoma cells and normal atrial cardiocytes, and these showed ANP immunoreactivity with protein A-gold technique. It could be said that the localization and intracellular distribution of ANP in this cardiac rhabdomyoma were closely similar to those of normal human heart. With regard to the presence of ANP, cardiac rhabdomyoma cells arising in atria seemed to differ from those in ventricles, although many tumor nodules occurred in both atria and ventricles. Furthermore, it seemed that cardiac rhabdomyomas could also be divided into two parts: 1) an atrial part with ANP, and 2) a ventricular part without ANP. Therefore, this study confirms the hypothesis that cardiac rhabdomyoma is a hamartoma rather than a true neoplasm.

Atrial Natriuretic Factor↗
PubMed1982

Extracardiac rhabdomyoma: report of different types with light microscopic and ultrastructural studies.

Five extracardiac rhabdomyomas were studied by light and electron microscopy: two of the adult type, two of the fetal type, and one of the female genital tract type. The three types can be distinguished histologically and ultrastructurally. Adult type rhabdomyomas are encapsulated and reveal histologically closely packed, large tumor cells with granular or vacuolated cytoplasm and only scant stroma. Electron microscopically, myofibrils are haphazardly arranged with rodlike Z-band material. Sometimes a sarcomeric arrangement of myofibrils is seen. The tumor cells are packed with mitochondria bearing lamellar inclusions. Fetal type rhabdomyomas contain a mixture of muscle cells in different stages of differentiations; the amount of stroma is increased. The myofilaments are usually disorganized and in only a few cells is rodlike Z-band material found. The cytoplasm reveals few mitochondria. In the rhabdomyoma of the female genital tract, the tumor cells are large and resemble more mature muscle fibers; the stroma is abundant and the myofilaments are usually arranged in an orderly fashion. Generally, the prognosis for rhabdomyomas is good. Metastases are not known. Two of the five rhabdomyomas studied recurred. One rhabdomyoma was found at autopsy. Embryonal rhabdomyosarcoma must be considered in differential diagnosis particularly for fetal type rhabdomyoma.

Abdominal Neoplasms↗
PubMed2003

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.

OBJECTIVES: We reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. STUDY DESIGN: We reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. RESULTS: Twenty fetuses with cardiac rhabdomyoma were diagnosed at 28.4+/-6.0 weeks' gestational age. Of 19 continued pregnancies, there was one spontaneous intrauterine death, and 18 were delivered at term. Although none had prenatal hemodynamic complications, after birth seven had cardiac symptoms requiring medical (n=4) or surgical intervention (n=3). On follow-up, 15 of 19 with available outcome had TSC (79%), including six with neurodevelopmental disease. Over the same period, 26 patients were diagnosed with cardiac rhabdomyoma postnatally. Most (77%) were referred for cardiac assessment after findings suggesting TSC. On follow-up, TSC was confirmed in 25 (96%), including 22 with neurodevelopmental disease. The incidence of cardiac symptoms and TSC was not statistically different between the prenatal and postnatal diagnosis groups. CONCLUSIONS: Cardiac rhabdomyomas are benign from the cardiovascular standpoint in most affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.

Brain↗
PubMed2005

[Multifocal adult rhabdomyoma of the neck: a rare entity].

Extracardiac rhabdomyoma comprise 2% of all tumors of skeletal muscle differentiation. Seventy percent of extracardiac rhabdomyoma occur in the head and neck region and have been subclassified into adult and fetal types. There are only about 100 cases reported in the literature. A review of the world literature revealed about 19 acceptable cases of benign, multifocal adult-type rhabdomyoma with a distinct male predominance. The pathogenesis of this benign striated muscle tumor is still unclear. These slow-growing tumors remain asymptomatic for a long period. The diagnosis of head and neck rhabdomyoma is based on histology and immunhistochemical studies. The differential diagnoses of rhabdomyoma in adults are myoblastoma or Abrikossof tumor, reticulohistiocytoma, rhabdomyosarcoma and hibernoma. We present a case of multifocal rhabdomyomas in the paratracheal and parapharyngeal space and discuss the clinicopathological features of this lesion. Although adult rhabdomyomas have a distinct histology, they often are mistaken for a variety of other lesions, particularly Abrikossof tumor. Light microscopy showed large round to elongated cells with granular, highly eosinophilic cytoplasm, often with peripheral vacuolation. Histology showed typical patterns of an adult type of rhabdomyoma with focal cross-striations. Immunhistochemically, all applied muscular markers were positive. Electron microscopic studies confirmed the tumor's myogenic origin. Myofibrils with Z band material, abundant mitochondria and glycogen particles were observed. Treatment is usually complete excision. Local recurrences have been reported in some cases; malignant degeneration is not known.

Aged↗
PubMed1978

Ultrastructural comparison between skeletal muscle and cardiac rhabdomyomas.

The electron microscope features of three primary cardiac rhabdomyomas and one skeletal muscle rhabdomyoma arising from the floor of the mouth are compared, along with a review of the previously reported ultrastructural features of skeletal rhabdomyomas. Cardiac rhabdomyoma filaments appear more orderly and have features suggestive of origin from both Purkinje and myocardial fibers. Zebra bodies were seen exclusively in the cardiac rhabdomyomas. In comparison, the extracardiac rhabdomyoma filaments were more disorderly and many cases had hypertrophic Z bands corresponding to the jackstraw or matchstick structures seen with the light microscope. This finding, along with the presence of satellite cells, was not seen in the cardiac rhabdomyomas.

Heart Neoplasms↗
PubMed1975

Rhabdomyoma of the orbit.

To our knowledge, this is the first fully documented case of an adult-type orbital rhabdomyoma in an 8-year-old white boy, which originated in the belly of the medial rectus muscle and grew into the anterior orbit to incorporate the trochlea. Incomplete excision resulted in recurrence; the lesion was misinterpreted as a rhabdomyosarcoma and exenteration was performed. The patient was free of disease 25 years later. Reexamination of original pathologic material showed the typical histology of an adult-type rhabdomyoma. Adult-type rhabdomyoma, the most differentiated tumor in a spectrum of benign and malignant striated muscle neoplasms, should be distinguished from fetal rhabdomyoma (also benign) and pleomorphic rhabdomyosarcoma, the malignant striated muscle tumor most likely to be confused with rhabdomyoma. An awareness of the benign nature of rhabdomyoma (rhabdomyoma never evolves into a sarcoma) should prevent unnecessary radical surgery. The tumor can be adequately managed by a local excision that includes all the lobulations of tumor within a margin of normal tissue.

Child↗
PubMed1981

Multifocal adult rhabdomyoma. Report of a case and review of the literature.

A patient had two separate adult rhabdomyomas. To our knowledge, this is only the fifth reported example of a patient with multifocal adult rhabdomyomas. A review of the English literature on rhabdomyomas showed a total of only 47 acceptable cases of adult rhabdomyoma. Forty-five of these were in the head and neck region. The adult rhabdomyoma has been confused in the past with granular cell tumors, fetal rhabdomyomas, and rhabdomyosarcomas. Its separation from these tumors is indicated.

Humans↗
PubMed1980

Extracardiac rhabdomyoma: a clinicopathologic study and review of the literature.

Extracardiac rhabdomyomas are rare benign neoplasms that in the past have been divided by histologic criteria into adult and fetal types. In this series, 15 previously unpublished cases are presented and analyzed in combination with 51 acceptable cases from the literature. The adult type of rhabdomyoma occurs almost exclusively in the head and neck region (93% of all cases), particularly in the larynx and pharynx of adult males. The fetal type of rhabdomyoma may be subdivided on histologic grounds into myxoid and cellular variants. The fetal myxoid type usually occurs in the vulvovaginal region of middle aged women or in the postauricular region of male infants. The fetal cellular type has not been previously emphasized. This type tends to occur in the head and neck region of adult males. It may be mistaken for a sarcoma because of its high degree of cellularity. Local recurrence of a rhabdomyoma is rare and has only been occasionally reported in the adult type of rhabdomyoma. In no instance has a rhabdomyoma been shown to possess aggressive local growth or metastatic potential. Therefore, it is essential that these neoplasms be recognized histologically and that they be treated conservatively by local excision.

Adult↗