Cases reported "Rhabdomyosarcoma"

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11/65. Metastatic rhabdomyosarcoma to the breast.

    Secondary malignancy metastatic to the breast is uncommon, with an incidence of 0.5% to 3% of patients with extramammary malignancy. Although rhabdomyosarcoma is a common aggressive primary malignancy in the pediatric age group, metastatic deposits to the breast rarely occur and are mainly seen in adolescent girls. Here, we report an intriguing, rare adult case with metastasis to the breast from nasal rhabdomyosarcoma. A 31-year-old woman with the complaint of right neck mass noted recently came to this hospital for help. She had a history of nasal malignancy treated with radiotherapy in another hospital three months previously. physical examination revealed multiple neck masses at bilateral neck areas. Bilateral neck dissection was performed and rhabdomyosarcoma, metastatic to lymph node, was the final diagnosis. One year after operation, the patient felt a large lump in her left breast. Surgical excision was performed and histological analysis was consistent with rhabdomyoblastic origin. Secondary malignancy metastatic to the breast is uncommon, yet this entity does exist. In view of the therapeutic implication, a metastatic breast lesion should not be mistaken as the primary breast carcinoma. Only with the awareness of such a possibility can prompt diagnosis and optimal treatment be achieved.
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12/65. Congenital cervical rhabdomyosarcoma arising in one fetus of a twin pregnancy.

    OBJECTIVE: To describe a huge congenital cervical rhabdomyosarcoma. methods: We were recently confronted with a case of fetal solid neck mass arising in one fetus of a twin pregnancy. Prenatally, the cervical tumor was consistent with teratoma, but it was diagnosed histologically as a rhabdomyosarcoma. Genetic amniocentesis showed a mosaic pattern consisting of 46,XY/46,XY,t(2;8)(q35;q21.2). Results: EXIT procedure was proposed to the parents but declined. The twin with huge cervical tumor died in utero at 35 weeks' gestation due to hydrops fetalis. CONCLUSION: Fetal cervical rhabdomyosarcoma is an extremely rare condition that has not been previously reported, but should be considered in the presentation of fetal solid neck mass.
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13/65. adult rhabdomyosarcoma in the nasal and paranasal sinuses showing complete local response to a combination of chemotherapy and radiotherapy using 3D-CRT and IMRT.

    We report on a 69-year-old woman with rhabdomyosarcoma arising from the nasal and paranasal sinuses. She was referred to our hospital with a reduced ability to smell and impaired bilateral vision, narrowing of the visual field, and left facial pain. Computed tomography (CT) revealed a large tumor in the nasal and left paranasal sinuses invading the left orbital cavity and anterior skull base, and lymph node swellings in the submental and left accessory nerve areas. A biopsy specimen from the nasal tumor was diagnosed histologically as a rhabdomyosarcoma, alveolar type. Because the intracranial direct invasion and distant metastases to the thoracic spine were suspected by pretreatment examination, our case was determined to be inoperable by a head and neck surgeon. Radiotherapy with a total dose of 60 Gy was carried out to control the primary disease. The three-dimensional conformal radiotherapy (3D-CRT) and intensity-modulated radiotherapy (IMRT) techniques were used in order to reduce the doses to risk organs. Combined with radiotherapy, chemotherapy was also performed for the treatment of lymph-node metastases and distant diseases. After the treatment was completed, the primary tumor and lymph-node metastases disappeared completely; there was no sign of re-growth during the follow-up period. chemoradiotherapy may be an effective treatment also for inoperable adult rhabdomyosarcoma in the head and neck region. Furthermore, the 3D-CRT and IMRT techniques are both useful methods of radiotherapy for this disease.
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14/65. Rhabdomyosarcoma of the oral tissues--two new cases and literature review.

    Rhabdomyosarcoma (RMS) is a malignant soft tissue neoplasm consisting of cells derived from the primitive mesenchyme that exhibit a profound tendency to myogenesis. About 35% of RMS arises in the head and neck, being classified as parameningeal and non-orbital non-parameningeal forms. Parameningeal tumors carry the worst prognosis. The use of contemporary, multi-agent chemotherapy, radiotherapy, and surgery has made treatment of the disseminated disease possible, and has significantly improved overall survival from 25% in 1970 to 70% in 1991. Here, we present the management of two cases of orofacial RMS in adolescents: an 18-year-old, white female that had a 9-month history of a nodule in the left buccal mucosa, and a 19-year-old, white male who had been aware of a nodule in the left, posterior maxillary ridge with progressive growth for 4 months. Before final diagnosis, both cases were previously treated as inflammatory lesions. Their clinicopathological aspects, treatment, and poor survival as a consequence of delays in diagnosis are discussed.
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15/65. Acquired Chiari malformation type I following fractionated radiation therapy to the anterior skull base in a 20-month-old boy. Case report.

    The authors present the case of a 20-month-old boy who underwent fractionated radiation therapy to the paranasal sinuses and anterior skull base during treatment for nasopharyngeal parameningeal rhabdomyosarcoma. Subsequent magnetic resonance imaging demonstrated progressive development of a Chiari malformation Type I (CM-I) and partial hypoplasia of the posterior fossa. Since the tonsillar herniation was discovered, the child, now 3 years old, remains asymptomatic except for mild, intermittent neck discomfort. For the time being, his family has elected for him to undergo clinical and neuroimaging follow up. The authors believe this is the first report of a progressive acquired CM-I after cranial irradiation in the pediatric population.
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16/65. Desmoplastic small cell tumor of soft tissue: molecular variant of EWS-WT1 chimeric fusion.

    A 7-year-old girl was hospitalized because of a tumorous mass in her left periorbital region. The tumor was removed by local excision. The soft-part tumor recurred in the parotid gland region 4 months later, and a second recurrence was noted on the left side of the neck 3 years and 3 months thereafter. The patient had not received chemotherapy or local irradiation. Histological and immunohistochemical examinations of the recurrent masses revealed morphological characteristics of small cell proliferation with desmoplastic stroma that were similar to those of the initial tumor. The cellular components showed immunoreactivity for desmin, cytokeratin, vimentin, and epithelial membrane antigen in part, but the cells were negative for myogenin, CD99, and neuron-specific enolase. These findings suggested a diagnosis of desmoplastic small cell tumor, despite its extra-abdominal location. The histological diagnosis was confirmed by reverse transcriptase polymerase chain reaction, which demonstrated an EWS-WT1 chimeric fusion gene. An in-frame fusion of EWS exon 9 and WT1 exon 8 was subsequently identified by cloning and sequencing. The chimeric fusion gene might be related to the tissue-specific phenotype of desmoplastic small cell tumors, although further investigation of this speculation is necessary.
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17/65. Alveolar rhabdomyosarcoma of the clivus with intrasellar expansion: Case report.

    Rhabdomyosarcomas are common tumors of the head and neck region in children. However, a primarily intracranial localization of this tumor entity is rare. We report on a 3-year-old boy presenting with double vision due to left VI (th) nerve palsy. No other neurological deficits were recognized by clinical inspection. MRI scans visualized an enhancing mass lesion in the upper clivus compressing the cavernous sinus and the pituitary gland. Transsphenoidal biopsy was performed and histopathological examination as well as molecular diagnostics confirmed the diagnosis of an alveolar rhabdomyosarcoma (ARMS). Staging identified a metastatic lesion in the fourth thoracic vertebra resulting in the diagnosis of stage IV disease. Treatment modality included stereotactic radio- and chemotherapy.
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18/65. Epithelioid variant of myxofibrosarcoma: expanding the clinicomorphologic spectrum of myxofibrosarcoma in a series of 17 cases.

    Myxofibrosarcoma (MFS) is one of the most common soft tissue sarcomas of elderly patients and has a predilection for the limbs. Herein, we report a previously undescribed variant of MFS showing epithelioid morphology. Seventeen cases diagnosed as epithelioid MFS were retrieved from the authors' files from among 570 cases of MFS. hematoxylin and eosin-stained sections were reexamined and immunostains for pan-keratin (15 cases), S-100 protein (15), desmin (15), and alpha-smooth muscle actin (13) were performed. Nine patients were men and 8 were women (age range 43 to 89 y; median 63.5). Fifteen patients presented with a mass, and in 2 of these there was also pain. Duration of symptoms varied from 1 to 24 months (median 3). Tumor size ranged from 2 to 15 cm (median 6.75). In 10 cases, the tumor was located in subcutaneous tissue and in 6 cases it was subfascial. The majority of the tumors were located on the limbs (8 lower extremities and 6 upper extremities) followed by neck (1), scalp (1), and trunk (1). Follow-up was available for 14 patients (range 2 to 240 mo; median 16). Twelve patients were treated by surgery followed by chemotherapy and/or radiation (8 cases). One patient received chemotherapy after an incisional biopsy and 1 patient was treated by surgery alone. Ten patients (71.4%) developed local recurrences. Seven patients (50%) developed metastases to lungs or retroperitoneum. Five patients (35.7%) have died of disease so far. Two patients were lost to follow-up. Morphologically, 14 cases were high grade, 2 were intermediate, and 1 was low grade. Tumors were characterized by a multinodular, infiltrating growth pattern with alternation of hypercellular and hypocellular myxoid areas; the latter showed prominent curvilinear vessels. Neoplastic cells were arranged singly and in small clusters in the myxoid areas or formed sheets in the hypercellular areas, where they showed epithelioid morphology with round nuclei, vesicular chromatin, prominent nucleoli, and moderate amounts of eosinophilic cytoplasm. The epithelioid areas were generally multifocal with admixed areas of conventional MFS. Immunostains were negative for all markers studied. Differential diagnosis included carcinoma, melanoma, myoepithelial carcinoma, pleomorphic liposarcoma, and pleomorphic rhabdomyosarcoma. In conclusion, epithelioid MFS is a rare variant of MFS, accounting for <3% of MFS in consultation material. Its natural history seems more aggressive than usual high-grade MFS, with approximately 70% local recurrence and 50% metastases, even within a relatively short follow-up period.
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19/65. Rhabdomyosarcoma of the petrous ridge. CT and MR imaging in an atypical case with multiple cranial nerve palsy.

    The CT and MR findings are reported in a case of biopsy proven rhabdomyosarcoma of the skull base. The tumor presumably originated in a pneumatized petrous ridge and had an atypical presentation of multiple cranial nerve palsy. The lesion exhibited a soft tissue density and a nonexpansile bone destruction on unenhanced CT. On MR imaging the lesion showed homogeneous intermediate signal intensity on T1 weighted images and a high signal intensity on proton density and T2 weighted images. The scanty literature on CT and MR features of rhabdomyosarcoma of the head and neck is reviewed.
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20/65. Chemotherapy and surgical resection combined with immediate reconstruction in a 1-year-old child with rhabdomyosarcoma of the maxilla.

    Parameningeal head and neck rhabdomyosarcomas of childhood are often considered unresectable and are treated with irradiation and chemotherapy. High-dose radiation therapy has a very long-term detrimental effect on the developing face and also results in many other significant long-range complications. With the availability of advanced craniofacial surgical and free-tissue-transfer techniques, one-stage resection and immediate reconstruction, along with the use of effective preoperative and postresection chemotherapy instead of local radiation, may be the logical approach to the treatment of selected patients with chemosensitive parameningeal head and neck rhabdomyosarcomas.
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