Fine needle aspiration of parapharyngeal space adult rhabdomyoma: a case report.

BACKGROUND: Rhabdomyomas are rare benign tumors of striated muscle and include cardiac and extracardiac types. Extracardiac rhabdomyomas are divided in three subtypes (adult, fetal, genital). The adult type is usually found in the head and neck regions of elderly persons. Misinterpretations in initial diagnosis of adult rhabdomyomas on fine needle aspiration have been reported. CASE: A 64-year-old man presented with gurgling and difficulty swallowing for approximately 3 months. Computed tomography and magnetic resonance imaging showed a 5.8-cm solid mass located in the right parapharyngeal space. Fine needle aspiration smears were cellular, showing cohesive clusters of cells with scattered individual cells. Cells had abundant eosinophilic glassy cytoplasm, peripherally placed round nuclei, and prominent nucleoli. Many traversing vessels were noted, but cross-striations were not seen. The cell block demonstrated clusters of cells with abundant eosinophilic granular cytoplasm, some with clear and/or vacuolated cytoplasm, and possible cross-striations. Tumor cells were positive for desmin. The lesion closely resembled normal muscle tissue. Electron microscopy showed many cells containing actin and myosin filaments with Z-band material. CONCLUSION: Correct diagnosis can be achieved with a combination of awareness of the lesion, familiarity with the characteristic cytologic features, and application of appropriate immunohistochemistry markers. Classic electron microscopic findings can support the diagnosis.

Cambios electrocardiogáficos y arritmias en pacientes pediátricos con rabdomioma / Electrocardiographical changes and arrhythmias in pediatric patients with rabdomiome

La incidencia de tumores cardíacos en pediatría es menor de 0,1%, en su mayoría son de carácter benigno y másde la mitad rabdomiomas. La historia natural de estos tumores es de regresión y la mayoría no produce síntomas. No es infrecuente la asociación con cambios electrocardiográficos, dependiendo de la localización tumoral, y ocasionalmente su presentación concomitante con taquicardias ventriculares, bloqueos aurículo-ventriculares y supraventriculares por vías anómalas.Revisamos nuestra experiencia en pacientes diagnosticados con rabdomioma asociados a arritmias y suevolución. 18 pacientes, nueve de ellos varones diagnosticados con tumoración cardíaca y etiquetados como rabdomioma por imagenología, a una edad media de 7,7 meses (uno prenatalmente). 22% (4) presentaban esclerosis tuberosa asociada. La media de seguimiento es de 17 años. De los 18 pacientes, siete presentaban bloqueo de rama derecha (dos aislado, tres con bloqueo aurículo-ventricular de primer grado, dos con bloqueo aurículo-ventricular de segundo grado y extrasístoles ventriculares), tres debutaron con taquicardia o fibrilación ventricular, uno con bradicardia neonatal y siete con preexcitación intermitente (cuatro con taquicardia supraventricular), cinco fallecieron durante meses posteriores al diagnóstico, dos de ellos tempranamente en relación con arritmias ventriculares incontrolables, uno por problemas hemodinámicos obstructivos previo a cirugía y dos en el postoperatorio inmediato (ninguno de ellos tenía el diagnóstico de esclerosis tuberosa). De los 13 pacientes restantes, seis requirieron ser intervenidos por obstrucción tumoral. En uno se implantó un marcapasos AAI por disfunción sinusal evolutiva postoperatoria y en un paciente persiste preexcitación electrocardiográfica, sin taquicardia y en tratamiento con betabloqueantes, y en dos bloqueo de rama derecha, uno de ellos asociado a bloqueo aurículo ventricular de primer grado...

The incidence of cardiac tumors in children is < 0,1%; most of them are benign and more than half of them arerhabdomyosarcoma. The majority regresses without symptoms. Frequently, depending on the tumors location, electrocardiographic changes can be seen, occasionally with ventricular tachyarrhythmia, auricular-ventricular blockage and supraventricular tachyarrhythmia due to accessory pathways. Our experience with patients who had rhabdomyosarcoma with arrhythmias and their evolution is described in thispaper. 18 patients were included, nine boys with the diagnosis of rhabdomyosarcoma through image with an age average of 7,7 months old (one was done prenatal). Four patients (22%) had tuberous sclerosis associated. Follow–up was done for an average of 17 years. Of the 18 patients, seven had sinoatrial block (two isolated, three with first degree AV block, two with second degree block and ventricular extrasystoles), three started with VT/VF, one had neonatal bradyarrhythmia and seven with intermitent preexcitement (four with SVT), five died months after the diagnosis, two died prematurelydue to uncontrollable ventricular arrhythmias, one had preoperative hemodynamic problems and two diedinmedialtely after surgery (none had tuberous sclerosis). Of the 13 patients left, six needed surgery due to tumoralobstruction. One patient needed a cardiac pacing and another patient persist with electrocardiographicpreexcitation, without tachyarrhythmia who is treated with â-blockers. Two have sinoatrial block, one of them firstdegree block. Of the rest three were operated and 16 had tumoral regression.Electrocardiographic alterations and arrythmias associated to tumors are frequent, malignant arrythmias can befatal but most of them dissapear when surgery of the tumor is practiced.

Rhabdomyoma of the base of the tongue.

The histopathological and imaging findings of a rhabdomyoma of the base of the tongue were studied. An immunohistochemical examination of the tumour cells showed positive immunostaining for myoglobin, desmin, and striated muscle actin, but negative immunostaining for smooth muscle actin. Electron microscopy showed many glycogen granules and mitochondria in the tumour cells. The T2-weighted and contrast-enhanced magnetic resonance images (MRI) clearly delineated morphological features of this tumour, but T1-weighted MRI and computed tomography (CT) images showed no important features. These findings are typical for an adult extracardiac rhabdomyoma located in the head and neck region, and they will be useful for diagnosis of this tumour.

Ultrastructural changes in medullomyoblastoma. Similarities with foetal rhabdomyoma.

The light and electronmicroscopic changes are described in two cases of medullomyoblastoma, and compared with the changes seen in a case of foetal rhabdomyoma. The medullomyoblastomas in two children aged 8 and 5 years, consisted predominantly of classical type of medulloblastoma cells, along with few to many 'strap cells' or 'myoid cells' which, on closer examination, showed clear cross striations, consistent with muscle fibres or myofibrils. The primitive myoid cells were similar to those encountered in larger numbers in a post-auricular rhabdomyoma, possibly of foetal origin in a 40 day old infant. The four pathogenetic mechanisms i.e. (i) an embryonal stage of myofibrillar differentiation; (ii) a malformative factor; (iii) a teratoid factor on account of the presence of mesenchyme derived striated muscle tissue in the obviously predominant ectodermal medulloblastoma; and (iv) metaplasia of the vascular smooth muscle cells in the medullomyoblastoma, are discussed.

Neurocytoma/rhabdomyoma (myoneurocytoma) of the cerebellum.

An unusual case of cerebellar neurocytoma with rhabdomyomatous differentiation in a 6-year-old boy is reported. Immunocytochemical and ultrastructural features of the tumour were studied. Abortive synapse formation, the presence of clear vesicles and synaptophysin immunoreactivity of the tumour cells indicated its intermediate neuronal differentiation, while the presence of myoblasts and myotubes and immunolabelling by desmin confirmed the rhabdomyomatous differentiation. In addition, the mesenchymal cells variably expressed neurofilament protein and glial fibrillary acidic protein, suggesting inductive interaction between the neuroectodermal and ectomesenchymal elements and persistence of the pleuripotential nature of the cells along the rhombic area of the brain stem.

Rhabdomyoma of the tunica vaginalis of the testis: a histologic, immunohistochemical, and ultrastructural study.

A case of an unusual tumor of skeletal muscle origin is described. The tumor was located in the tunica vaginalis of the testis in a 19-year-old man. Histologic examination showed a proliferation of elongated or round cells, with clearly discernible cross striations, surrounded by abundant mature connective tissue, consistent with genital rhabdomyoma. Immunohistochemical and electron microscopic features supported this diagnosis. Rhabdomyoma must be considered in the differential diagnosis of paratesticular tumors.

Myocardial rhabdomyoma with rhabdomyoblastic moiety.

The clinical, histologic, histochemical, immunohistochemical, and ultrastructure studies of a primary neoplasia of the myocardium with onset in a 14-year-old boy led to the conclusion that this was a benign neoplasia of myocardial origin, apparently not previously described. The authors propose to call this entity "myocardial rhabdomyoma with rhabdomyoblastic moiety".

[Rhabdomyoma of the adult type. Apropos of a case of parapharyngeal site]. / Le rhabdomyome de type adulte. A propos d'un cas de localisation parapharyngée.

The authors report the case of an adult parapharyngeal rhabdomyoma in a-66-years old man, revealed by dysphagia. Optical and electronical microscopic aspects and immunohistochemistry are presented and compared with those of the literature. The pathogenesis of this benign striated muscle tumor is still unclear. A recent study tends to confirm that it is a really benign neoplasm.

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.

[A rare cause of dysphonia: laryngeal rhabdomyoma]. / Une cause rare de dysphonie: le rhabdomyome laryngé.

The authors report a case of laryngeal rhabdomyoma occurring in a young female adult, revealed by a dysphonia. The review of literature shows that both immunohistochemical and electron microscopy studies have rarely been performed for this benign but infrequent tumour in this localization.

[Malignant rhabdoid tumor of the central nervous system. Apropos of a case with immunohistochemical and ultrastructural studies, and review of the literature]. / Tumeur rhabdoïde maligne du système nerveux central. A propos d'une observation avec études immunohistochimique et ultrastructurale, et revue de la littérature.

The authors report a new case of cerebral malignant rhabdoid tumour in an eight year old girl. The diagnosis was confirmed on immunohistochemical and ultrastructural examinations showing cytoplasmic perinuclear inclusions composed of whorled filaments of vimentin. Base on a review of six cases reported in the literature, they analyse the clinical, histological, immunohistochemical and ultrastructural features of this exceptional central nervous system neoplasm. Different histogenetic hypotheses are discussed.

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.

[Rhabdomyoma of unusual manifestation]. / Szokatlan manifesztációjú rhabdomyoma.

According to our knowledge in adult pericardial effusion has never been reported to be present in cases of cardiac rhabdomyoma. We present the history of an adult patient with pericardial effusion due to cardiac rhabdomyoma.

Recurrent parapharyngeal rhabdomyoma. Evidence of neoplastic nature of the tumor from cytogenetic study.

A 64-year-old Caucasian male with a left parapharyngeal mass had a past medical history that was significant for excision of a benign rhabdomyoma of the soft palate 30 years previously. Then 25 years ago, the tumor recurred in the palate and retropharyngeal space on the left and was reexcised. Histologic examination of all three excisions showed adult rhabdomyoma. Ultrastructural and histochemical studies of the second excision of this tumor have been published previously. The present study included histologic, ultrastructural, immunohistochemical, and cytogenetic analyses. The histologic and ultrastructural features of the tumor were identical to those reported 25 years ago. Immunohistochemical studies demonstrated that the tumor cells were desmin and myoglobin positive and vimentin negative. Focal positivity for CD56 was also present. Intracellular inclusions in the tumor cells were strongly positive for desmin. Cytogenetic examination of short-term cultures of the tumor cells demonstrated clonal chromosome abnormalities in 60% of metaphases. The majority of cells showed a reciprocal translocation between chromosomes 15 and 17 as the sole abnormality. A minor clone was characterized by abnormalities of the long arm of chromosome 10. The presence of clonal structural chromosome abnormalities in extracardiac adult rhabdomyoma lends strong support to the idea that these rare tumors are true neoplasms rather than hamartomatous or regenerative lesions.

[Extracardiac rhabdomyomas]. / Ekstrakardiale rabdomyomer.

Two cases of extracardial rhabdomyomata are described. One case was discovered incidentally at autopsy while the other was primarily examined by needle aspiration biopsy. As far as the authors are aware, this is the first case to be reported.

Rhabdomyomas of female genital tract. Report on two cases.

Studies were conducted by means of optical light and electron microscopy into two cases of rhabdomyoma of a fetal type in the vagina of a patient, 42 years of age, and in the ectocervical region of a patient aged 39 years. Both cases were similar to one another for optical and ultrastructural features and revealed high maturity of the rhabdomyomatous cells in tumors. A review of the literature would reveal the cases presented to be the 20th case of a vaginal tumor and the 3rd case of ectocervical tumor so far described as rhabdomyomas of the female genital tract.

Malignant rhabdoid tumor of the vulva: is distinction from epithelioid sarcoma possible? A pathologic and immunohistochemical study.

Epithelioid sarcoma (ES) and malignant rhabdoid tumor (MRT) have heretofore been regarded as two separate clinicopathologic entities. However, they have some histologic similarities, and both represent histogenetic and phenotypic enigmas. This study reports the pathologic and immunohistochemical findings of four vulvar neoplasms occurring in young women that represented diagnostic dilemmas because of their similarity to both ES and MRT. Only one case had the classic histologic features of ES, whereas, in our opinion, the other three cases fulfilled the histologic criteria of MRT, despite the fact that two of the three cases were reported earlier as examples of ES. Neither electron microscopy nor immunohistochemistry has been found to be helpful in separating ES from MRT, mainly because they share several ultrastructural and immunophenotypic features. The behavior of these vulvar tumors--ours and the few published examples of ES--is generally aggressive, more in keeping with MRT than classic ES. We believe that some, if not most, putative ES of the vulva are in fact MRT, a neoplasm with an unfavorable prognosis.

Multifocal rhabdomyoma of the neck. Report of a case studied by fine-needle aspiration, light and electron microscopy, histochemistry, and immunohistochemistry.

A 32-year-old Caucasian man presented with a tumor in the right side of the neck. Preoperative fine-needle aspiration showed large multinucleated cells with abundant granular cytoplasm that were consonant with the features of a granular cell tumor. At surgery, two separate tumors were found. Histologically, the tumor proved to be an adult rhabdomyoma, the 11th such multifocal case reported. The striated muscle origin of this benign tumor was confirmed by immunohistochemical and ultrastructural studies. The tumor cells were desmin-, myoglobin-, and actin-positive. They showed variable numbers of thick and thin filaments, as well as hypertrophic Z-band material. Histochemical studies showed the presence of basophilic muscle cells, vesicular nuclei, ragged red fibers, and diffuse acid phosphatase positivity. These features, together with the absence of actual muscle cell proliferation and the assumption that the mass of the tumor could be explained by the enormous swelling of the muscle cells, lead us to conclude that an adult rhabodomyoma is merely the result of a process of disorderly degeneration and regeneration rather than a real neoplasm or a hamartomatous lesion.

Malignant rhabdoid tumour of the bladder with immunohistochemical and ultrastructural evidence suggesting histiocytic origin.

A malignant rhabdoid tumour of the bladder is reported from a girl aged 6. Detailed immunohistochemical and ultrastructural investigations provide evidence which suggests a histiocytic origin for this controversial neoplasm.