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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of embryonal rhabdomyosarcoma of the left kidney is reported. A 16-year-old boy was admitted with the complaint of left abdominal pain and fever on January 6, 1983. Radiological examination showed a tumor of the left kidney; and, nephrectomy was performed. Histopathologically the entire tumor was composed of undifferentiated round cells. Diagnosis of embryonal rhabdomyosarcoma was made on the basis of special stains including immunohistochemical study with nervous tissue specific enolase. Although radiation and chemotherapy were performed postoperatively, the tumor recurred and the patient died on October 22, 1983. The problems of differential diagnosis of embryonal rhabdomyosarcoma from sarcomatous types of nephroblastoma, particularly rhabdoid tumor and other undifferentiated renal tumors were discussed. Fifteen rhabdomyosarcoma of the kidney including our case have been reported in the Japanese literature.
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PMID:[A case of embryonal rhabdomyosarcoma of the kidney]. 406 Dec 1

Malignant rhabdoid tumor of the kidney, a clinically and pathologically unique tumor of early childhood, has been recently distinguished from nephroblastoma. Skeletal muscle histogenesis has been considered because of its aggressive course and histologic resemblance to rhabdomyosarcoma. Application of an indirect immunoperoxidase technique for myoglobin, an early marker of myogenesis, failed to show the protein in four malignant rhabdoid tumors of kidney. This substantiates the lack of ultrastructural evidence of skeletal muscle differentiation in these tumors.
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PMID:Absence of immunoperoxidase staining for myoglobin in the malignant rhabdoid tumor of the kidney. 609 84

Beckwith-Wiedemann syndrome, familial atypical multiple mole melanoma syndrome, and hereditary tylosis are bona fide genodermatoses with malignant potential. Each of these conditions is associated with an increased incidence of certain tumors: Wilms' tumor, adrenocortical carcinomas, pancreatoblastomas, and hepatoblastomas in Beckwith-Wiedemann syndrome; intraocular malignant melanoma, pancreatic carcinoma, and noncolorectal gastrointestinal cancers in familial atypical multiple mole melanoma syndrome; and squamous cell carcinoma of the esophagus in hereditary tylosis. Other cancer-related genodermatoses are Birt-Hogg-Dube syndrome (associated with medullary carcinoma of the thyroid and renal cell carcinoma) and its variant, Hornstein-Knickenberg syndrome (associated with colon carcinoma). Kidney tumors (Wilms' tumor and malignant rhabdoid tumor), leukemias (acute myelogenous and acute myelomonocytic), retinoblastoma, and paratesticular rhabdomyosarcoma have been reported recently in children with another genodermatosis-incontinentia pigmenti. Supernumerary nipples (polythelia) may be sporadic or familial in occurrence; their presence has been associated with an increased incidence of renal adenocarcinoma, testicular cancer, prostate cancer, and urinary bladder carcinoma. The general characteristics, mucosal and skin manifestations, and noncutaneous features of all these conditions are reviewed. Also, the associated malignancies of these genodermatoses and other conditions that are characterized by dermatologic manifestations and may be either familial or secondary to an inherited gene defect are summarized.
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PMID:Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. 771 45

Malignant rhabdoid tumors are extremely aggressive soft-tissue sarcomas that tend to be widely metastatic at diagnosis. These tumors were first described as variants of the kidney neoplasm Wilms' tumor, although tumors of similar clinicopathologic features have been cited in a variety of extrarenal sites. Here, we have characterized the chromosomal translocation t(11;22)(p15.5;q11.23) from a retroperitoneal rhabdoid tumor. Somatic cell hybrids with segregated copies of the derivative 11 and derivative 22 chromosomes allowed sublocalization of the chromosome 11 breakpoint to a 1- to 2-Mb region between the proximal marker D11S12 and the distal locus tyrosine hydroxylase (TH). Translocation-associated aberrant fragments were identified by pulsed-field gel electrophoresis, with the smallest resulting from BssHII digestion as detected with a probe for TH. These data indicate that the locus or loci disrupted by this genetic abnormality might lie less than 60 kb proximal to this marker and place it in the chromosomal vicinity of genes involved in the etiologies of rhabdomyosarcoma, Wilms' tumor, and the congenital overgrowth disorder, Beckwith-Wiedemann syndrome. Analysis of two other tumor-associated loci, EWS1 and NF2, that have been mapped to the general region of 22q11.2 indicated that they were not involved in this translocation breakpoint. Isolation of the genes present at this translocation junction on both chromosomes 11 and 22 may yield important clinicopathologic and genetic markers for this enigmatic tumor as well as other pediatric diseases.
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PMID:Molecular sublocalization and characterization of the 11;22 translocation breakpoint in a malignant rhabdoid tumor. 818 85

Fourteen cases of neoplasms metastatic to the ovaries in children 10 weeks to 15 years of age are reported. Eight tumors were neuroblastomas, 7 primary in the adrenal gland, and 1 primary in the posterior mediastinum. Three tumors were rhabdomyosarcomas primary in the ethmoid sinus, right occipital region, and left thigh, respectively. The final three tumors were a Ewing's sarcoma, a rhabdoid tumor, and a carcinoid tumor primary in the fibula, kidney, and lung, respectively. The ovarian involvement was an autopsy finding in nine of the patients. Three of the remaining five patients presented clinically with manifestations suggesting a primary ovarian tumor, and the final two patients, who had known extraovarian primary tumors, had symptomatic ovarian masses discovered during life. In one case of neuroblastoma and the case of rhabdoid tumor, the ovarian metastases were initially misinterpreted pathologically as primary ovarian cancers; the primary renal tumor was not discovered until autopsy in the latter case. The ovarian tumors were bilateral in 8 of the 14 cases. Ovarian enlargement was present in 10 cases. Our experience and that in the literature indicates that the childhood tumor that spreads to the ovary most frequently is the neuroblastoma and that rhabdomyosarcoma is the most common sarcoma of childhood that spreads to the ovary. The clinical features and the frequent bilaterality of ovarian metastatic tumors are helpful diagnostic features in many cases, but when the ovarian tumor is the presenting manifestation of the disease, is unilateral, or both, differentiation from various primary ovarian tumors may be difficult.
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PMID:Metastatic ovarian tumors in children: a report of 14 cases and review of the literature. 841 81

Soft tissue small round cell tumors (SRCTs) comprise a heterogeneous group of neoplasms that predominate in childhood and adolescence and share similar morphological features, consisting of dense cellular proliferation of small round cells with a primitive appearance. Rhabdomyosarcomas, peripheral neuroepitheliomas, Ewing's sarcomas, and lymphomas/leukemias are the prototypic SRCT; other recently described tumors that should be added to the list are the desmoplastic SRCT and the rhabdoid tumor of soft tissues. In addition, several other primary soft tissue neoplasms and metastatic tumors have occasionally been considered in the differential diagnosis of SRCT. The precise identification of a given SRCT is important because of its clinical relevance. However, it may be difficult because the diagnostic criteria are sometimes subtle and several histologic and immunohistochemical features are not specific and/or may be simulated by different tumor types. We discuss the morphological clues that in our opinion are most useful for their diagnosis, the criteria for distinguishing between peripheral neuroepithelioma and Ewing's sarcoma, and the main diagnostic pitfalls.
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PMID:Soft tissue small round cell tumors: morphological parameters. 887 9

Eighteen examples of an unusual malignant soft-tissue neoplasm, the morphology of which ranged from that of "atypical" epithelioid sarcoma to that of a rhabdoid tumor or undifferentiated carcinoma (with transitional forms) are described. Patients included 11 males and seven females; their median age was 35.5 years with most patients aged 20 to 40 years. Development of a mass was the main presenting symptom. Six tumors developed in the pelvis and perineal region, four in the pubic region and vulva, three in the buttocks, one in the deep soft tissues of the left hip, one on the penis, one in left forearm, one in left axilla, and one on the occiput. Tumor size ranged from 1 to 20 cm (median, 4 cm). On microscopic examination, the tumor cells invaded the subcutaneous or deep soft tissues, had prominent epithelioid or rhabdoid features, had marked cytologic atypia, and grew in a multinodular pattern in half of the cases. Areas of necrosis were often seen. A granuloma-like pattern reminiscent of that observed in classic epithelioid sarcoma was observed in only two cases. Immunohistochemically, positivity for cytokeratin, epithelial membrane antigen, and vimentin was seen in all but one of the cases. Of 16 cases, 10 and eight tumors reacted with desmin and CD34, respectively; five of 15 reacted at least focally with smooth-muscle actin, whereas three of 13 and one of 10 reacted for HMB-45 and carcinoembryonic antigen, respectively. S-100 protein and CD31 yielded negative results. Seven tumors were investigated at the ultrastructural level, four of which showed prominent intracytoplasmic intermediate filament aggregates, often accumulating into paranuclear whorls, which is in keeping with the rhabdoid phenotype. Five tumors showed features of epithelial differentiation (i.e., tonofilament-like structures or desmosomes or both), whereas one tumor displayed features of myofibroblastic differentiation. Differential diagnoses include mainly conventional epithelioid sarcoma, extrarenal malignant rhabdoid tumor, epithelioid malignant peripheral nerve sheath tumor, melanoma, rhabdomyosarcoma, and undifferentiated carcinoma. Follow-up information on 14 patients (range, 4 months to 8 years; median, 19 months) revealed local recurrence in one case and metastatic dissemination in six patients, leading to death in five. In our opinion, the above-described neoplasms represent a usually "proximal-type" of epithelioid sarcoma. In contrast to the conventional, "distal-type" epithelioid sarcoma, the proximal variant is characterized by a predominantly large-cell, epithelioid cytomorphology, marked cytologic atypia, frequent occurrence of rhabdoid features, and lack of a granuloma-like pattern in most cases. It appears to be somewhat more aggressive (or at least metastasizes earlier) than usual epithelioid sarcoma.
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PMID:"Proximal-type" epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features. Clinicopathologic, immunohistochemical, and ultrastructural study of a series. 904 79

The present paper describes a case of cerebral neoplasm presenting histological-immunohistochemical characteristics of malignant rhabdoid tumor (MRT) and ultrastructural features of both MRT and rhabdomyosarcoma (R). MRT was first described as an aggressive neoplasm of unknown histogenesis of the kidney, then many other sites of onset were reported, including the central nervous system. However, it has been shown that other tumors of known histogenesis can mimic histologic and ultrastructural features of MRT. On the basis of our findings we agree with authors who support the notion that extrarenal MRT has often a different histogenesis from MRT of kidney, and it probably is a 'phenotypic' entity rather than a distinct pathologic entity.
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PMID:Cerebral rhabdomyosarcoma with rhabdoid tumor-like features. 904 66

The expression of GOK, a gene recently identified at 11p15.5, was studied in breast cancer, rhabdomyosarcoma, and rhabdoid tumor cell lines. In these neoplasms, deletions at 11p15 and suppression of tumorigenicity induced by a normal human chromosome 11 were previously demonstrated. Whereas breast cancer cell lines express readily detectable levels of GOK mRNA, expression is absent in rhabdomyosarcoma and rhabdoid tumor cell lines. This is in contrast with the high expression of GOK in skeletal muscle, the normal tissue of origin of rhabdomyosarcomas, suggesting that down-regulation of GOK expression could be involved in tumor development. In agreement with this hypothesis, transfection of GOK cDNA into G401 derived from a rhabdoid tumor and RD cells derived from a rhabdomyosarcoma that do not express detectable levels of GOK mRNA, induced cell death. Because GOK expression is not compatible with growth of these tumor cells, these results support the hypothesis that loss of GOK expression plays a role in tumor establishment or progression and suggest that GOK may act as a recessive tumor suppressor gene in rhabdomyosarcomas and rhabdoid tumors. On the contrary, transfection of GOK cDNA into the breast cancer cell line HBL100 produced no detectable effects, indicating that the growth-suppressive effect of GOK in RD and G401 cells was specific. Because rhabdomyosarcomas have been observed in cases of Beckwith-Wiedemann syndrome, a genetic disorder linked to 11p15, a role of GOK in this disease cannot be excluded.
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PMID:GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. 937 59

A case of malignant rhabdoid tumor of the vulva in a 25-year-old female was examined. The patient presented with a subcutaneous nodule in the left labium majus. Smears of the material obtained by percutaneous fine-needle aspiration demonstrated clusters of atypical cells with prominent nucleoli. The tumor measured 6 x 5 x 5 cm and appeared tan to brown on the cut surface and partly cystic. Pathological findings obtained from intraoperative frozen tissue sections had been originally interpreted as rhabdomyosarcoma. Light microscopic examination revealed that polygonal tumor cells having vesicular nuclei with prominent nucleoli were arranged in sheets and the great majority of the tumor cells contained an eosinophilic globular paranuclear cytoplasmic inclusion. Ultrastructurally, this cytoplasmic inclusion corresponds to whirls of intermediate filaments. Vimentin immunoreactivity was detected in both the cytoplasm and cytoplasmic inclusion of almost all the tumor cells. No cytokeratin and desmin immunoreactivity were detected in the tumor cells. The Ki-67 labeling index was 36% and the DNA content of the tumor cells, which was examined by image cytometry, demonstrated diploidy (DNA index = 0.95).
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PMID:Malignant rhabdoid tumor of the vulva: case report with cytological, immunohistochemical, ultrastructural and DNA ploidy studies and a review of the literature. 983 58


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