Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fibrous hamartoma of infancy is a benign myofibroblastic proliferation that typically occurs in the axillary or shoulder region of male infants. We describe 15 cases of this condition, which involved the inguinal region in 5, scrotum in 5, spermatic cord in 1, perineum in 1, labium majus in 1, the suprapubic region in 1 and the pubic area in 1. Patient median and mean ages were 10 and 6.7 months, respectively (range 2 to 24). No case was reported to be congenital. Median and mean tumor size was 3 cm. (range 0.5 to 6). The microscopic features were identical to those seen in fibrous hamartoma of infancy occurring in more typical sites and consisted of 3 components: 1) fascicles of myofibroblasts, 2) disorganized mature adipocytes and 3) small rounded primitive mesenchymal cells. Immunohistochemically, the myofibroblastic component expressed muscle specific actin and vimentin, and the primitive component expressed vimentin only. There was no evidence of increased cellular proliferation in the primitive cell component using proliferating cell nuclear antigen antibodies. Of the 15 lesions 1 recurred locally and 14 were apparently cured by local excision. Awareness of this presentation of fibrous hamartoma of infancy may avert misdiagnosis of more aggressive lesions, especially infantile fibromatosis or rhabdomyosarcoma.
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PMID:Fibrous hamartoma of infancy in the genital region: findings in 15 cases. 805 80

In an attempt to induce adenocarcinoma containing myoepithelial cells (MECs) in the rat submandibular gland, we injected 7,12-dimethylbenz(a)anthracene (DMBA) dissolved in acetone into the glands of rat pups at the age of 10 days. In both male and female pups, the glands, including their developing terminal secretory units, contained far greater numbers of cells positive for proliferating cell nuclear antigen (PCNA) than did adult glands. A single administration of 1% DMBA (0.05 ml/130 g b.w.) did not produce adenocarcinoma, but did induce occasional sarcomas, such as rhabdomyosarcoma and fibrosarcoma, in 2 months. Most glands regenerated with minimal scar formation. Microscopically, these glands were atypical in that they contained increased numbers of PCNA-positive cells, underdeveloped granular ducts, and striated ducts surrounded by MECs positive for alpha smooth muscle actin (alphaSMA). Though these features were also observed in the regenerated glands after acetone injection, the number of PCNA-positive cells was relatively high in the glands of DMBA-treated females, especially in the terminal secretory unit. The second DMBA injection at 10 weeks of age produced adenocarcinoma made up of alphaSMA-positive MECs and keratin 19-positive duct cells. Such MEC-associated adenocarcinoma was induced in the glands of more than half the female but not the male animals. Replacement of either of the double DMBA treatments with acetone, or DMBA treatment, single or double, of adult glands did not produce adenocarcinoma, but did produce sarcoma and squamous cell carcinoma. These results suggest that (1) at least two genetic mutations are necessary for induction of adenocarcinoma with MECs in the rat submandibular gland, (2) the mutation is efficiently introduced to pup glands whose terminal secretory units exhibit extreme proliferative activity, and (3) the second mutation is difficult to introduce in male glands, whose proliferative activity is relatively low, and/or transformed cells need some female hormone after the mutation to propagate.
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PMID:Induction of adenocarcinoma containing myoepithelial cells in rat submandibular gland by 7,12-dimethylbenz(a)anthracene. 1103 53

In a 5-year-old Holstein cow, a neoplasm composed of a large intramuscular mass and multiple metastases in the lungs and lymph nodes was diagnosed as a pleomorphic rhabdomyosarcoma. This neoplasm was characterized by marked variation in tumor cell size and giant cells with single bizarre nuclei. Although the presence of cross striations and myoglobin could be confirmed, expression of alpha-smooth muscle actin (SMA) was also recognized in a few cells. Neoplastic cells showing intense staining for desmin, vimentin and proliferating cell nuclear antigen irrespective of their size differed from those in an embryonal rhabdomyosarcoma that exhibited a wide spectrum of differentiation, reminiscent of normal skeletal myogenesis. The cellular pleomorphism and SMA expression seemed to be characteristic of deviation from normal muscle cells or satellite cells in adult muscle.
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PMID:Pleomorphic rhabdomyosarcoma in a cow. 1121 54

An eight-week-old male Sprague-Dawley (SD) rat showed signs of emaciation, and masses were found in the subcutis around the cervical and thoracic regions. At necropsy, a multilobular mass, 2.2 x 1.8 x 2.0 cm in size, had grown from the left neck into the thoracic cavity. On a cutting surface, masses were firm and whitish to tan, with necrotic and hemorrhagic plaques. Microscopically, masses were composed of multiple nodules of tumor cells that were incompletely encapsulated with fibrous connective tissue. The tumor cells exhibited varied forms, from spindle to globoid shapes with minimal to abundant eosinophilic cytoplasm, and appeared as large, multinucleated cells; many of the tumor cells were vacuolated. Histochemistry results revealed that tumor cells exhibited some cross-striation in the cytoplasm using PTAH staining. There were some multinuclear tumor cells with vacuoles located around the nuclei, and these vacuoles showed reddish staining by the periodic acid Schiff (PAS) method. Immunohistochemical staining also expressed intense granular cytoplasmic staining for desmin and myoglobin, with highly positive staining for PCNA, whereas alpha-smooth muscle actin (alpha-SMA) was negative. Based on the pathology results, a spontaneous rhabdomyosarcoma with pleomorphic type was diagnosed in a young SD rat.
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PMID:Spontaneous rhabdomyosarcoma in a young Sprague-Dawley rat. 1877 62

Rhabdomyosarcoma is a malignant tumor occurring more frequently in the childhood. The purpose of this study was to analyze the clinicopathological and immunohistochemical features of rhabdomyosarcomas of the head and neck (RHNs). Twenty nine patients treated in a single institution were selected. The histological slides were reviewed and the tumors were classified. The immunohistochemical reactions were performed using antibodies against vimentin, desmin, myogenin, MyoD1, AE1/AE3, p53, PCNA, Ki67, C-erbB2, FAS and CDK4. The mean age was 14.3 years. The nonparameningeal site was affected in 16 cases (55.2%). Eleven cases (37.9%) affected parameningeal sites and 2 cases the orbit. The p53 was positive in 4 cases (13.8%), CDK4 in 10 cases (34.5%), C-erbB2 in 19 cases (70.4%), FAS in 9 cases (31%), PCNA in 28 cases (96.5%) and Ki67 in 16 cases (55.2%). The overall survival was 28.7% in 5 and 10 years, and p53 expression may be related with poor prognosis.
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PMID:Rhabdomyosarcoma of the head and neck: a clinicopathological and immunohistochemical analysis of 29 cases. 2046 24

Neurofibromatosis type 1 (NF1) is a common, cancer-predisposing disease caused by mutations in the NF1 tumor gene. Patients with NF1 have an increased risk for benign and malignant tumors of the nervous system (e.g., neurofibromas, malignant peripheral nerve sheath tumors, gliomas) and other tissues (e.g., leukemias, rhabdomyosarcoma, etc.) as well as increased susceptibility to learning disabilities, chronic pain/migraines, hypertension, pigmentary changes, and developmental lesions (e.g., tibial pseudoarthrosis). Pigs are an attractive and upcoming animal model for future NF1 studies, but a potential limitation to porcine model research has been the lack of validated reagents for direct translational study to humans. To address that issue, we used formalin-fixed tissues (human and pigs) to evaluate select immunohistochemical markers (activated caspase-3, allograft inflammatory factor-1, beta-tubulin III, calbindin D, CD13, CD20, desmin, epithelial membrane antigen, glial fibrillary acidic protein, glucose transporter-1, laminin, myelin basic protein, myoglobin, proliferating cell nuclear antigen, S100, vimentin, and von Willebrand factor). The markers were validated by comparing known expression and localization in human and pig tissues. Validation of these markers on fixed tissues will facilitate prospective immunohistochemical studies of NF1 pigs, as well as other pig models, in a more efficient, reproducible, and translationally relevant manner.
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PMID:Immunohistochemical Markers for Prospective Studies in Neurofibromatosis-1 Porcine Models. 2884 62

The chromosome translocations generating PAX3-FOXO1 and PAX7-FOXO1 chimeric proteins are the primary hallmarks of the paediatric fusion-positive alveolar subtype of Rhabdomyosarcoma (FP-RMS). Despite the ability of these transcription factors to remodel chromatin landscapes and promote the expression of tumour driver genes, they only inefficiently promote malignant transformation in vivo. The reason for this is unclear. To address this, we developed an in ovo model to follow the response of spinal cord progenitors to PAX-FOXO1s. Our data demonstrate that PAX-FOXO1s, but not wild-type PAX3 or PAX7, trigger the trans-differentiation of neural cells into FP-RMS-like cells with myogenic characteristics. In parallel, PAX-FOXO1s remodel the neural pseudo-stratified epithelium into a cohesive mesenchyme capable of tissue invasion. Surprisingly, expression of PAX-FOXO1s, similar to wild-type PAX3/7, reduce the levels of CDK-CYCLIN activity and increase the fraction of cells in G1. Introduction of CYCLIN D1 or MYCN overcomes this PAX-FOXO1-mediated cell cycle inhibition and promotes tumour growth. Together, our findings reveal a mechanism that can explain the apparent limited oncogenicity of PAX-FOXO1 fusion transcription factors. They are also consistent with certain clinical reports indicative of a neural origin of FP-RMS.
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PMID:The PAX-FOXO1s trigger fast trans-differentiation of chick embryonic neural cells into alveolar rhabdomyosarcoma with tissue invasive properties limited by S phase entry inhibition. 3317 61