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

A new tumor cell line has been established from a malignant pleural effusion in a 28-yr-old female patient with a primary alveolar rhabdomyosarcoma of the left buttock. The in vitro and in vivo growth characteristics, morphologic features, abnormal karyotype, and immunohistochemical staining pattern indicate that this cell line is comprised of primitive malignant mesenchymal cells derived from a human rhabdomyosarcoma. Receptor studies done on tumors grown in male athymic mice revealed a single class of high affinity saturable cytoplasmic estrogen receptor (Bmax 2.6 fm/mg cytosol protein, Kd 0.34 nM). Likewise, sucrose density gradient analysis demonstrated specific low-capacity, high-affinity estradiol binding predominately in the 8S region. Cell growth in monolayer culture and on soft agar in the presence of estradiol was inhibited by pharmacologic concentrations of estradiol in a dose-responsive manner compared with control. We describe a newly characterized malignant mesenchymal cell line derived from an alveolar rhabdomyosarcoma that is inhibited by pharmacologic doses of estradiol in vitro. These findings suggest further investigation into the mechanism(s) of this estrogen-induced inhibition in rhabdomyosarcomas.
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PMID:Characterization of malignant mesenchymal cell line (UISO-RS-3) derived from a human rhabdomyosarcoma and inhibition by pharmacologic doses of estrogen. 224 60

The development of sarcomas in patients with germ cell tumors is rare but has been reported previously. Theories about its pathogenesis include derivation of the tumor cells from pluripotential germ cells and malignant transformation from teratomatous elements. This report describes the occurrence of rhabdomyosarcoma in a patient with a history of mixed germ cell tumor of the testis who developed a malignant pleural effusion. Cytologic evaluation of the fluid revealed single malignant cells with high nuclear/cytoplasmic ratios and prominent nucleoli. While these features initially suggested a diagnosis of metastatic seminoma, careful cytologic and immunohistochemical examination revealed features consistent with metastatic rhabdomyosarcoma. The exfoliative cytologic findings of other germ cell tumors are also discussed.
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PMID:Cytologic diagnosis of rhabdomyosarcoma in a patient with germ cell tumor. A case report. 788 73

We investigated the intraarterial concentration of CDDP following continuous hyperthermic pleural perfusion (CHPP, 43 degrees C for 30 to 60 minutes) with 100 mg CDDP diluted in distilled water or saline in 6 lung cancers (2 pleural dissemination, 1 malignant pleural effusion, 3 positive wash cytology), 2 metastatic lung cancer (from breast cancer, 1 rhabdomyosarcoma with pleural dissemination), and 1 metastatic pleural tumor (adenocarcinoma, unknown origin). The level of CDDP was 9.16 to 24.1 micrograms/ml (average 16.1) in perfusion fluid, 0.3 after 5 minutes, 0.41 to 0.85 after 60 minutes and 0.15 to 0.27 (average 0.22) after 24 hours. There were no severe side effects nor any difference in effects by dilution fluid between distilled water and saline. Only 1 patient suffered pleural effusion after this treatment. The results suggested that CHPP with CDDP diluted by saline was effective for prevention and treatment of pleural dissemination.
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PMID:[Clinical treatment with cisplatin (CDDP) in pleural cavity for carcinomatous pleurisy--study of intraarterial concentration]. 885 92

Rhabdomyosarcoma (RMS) is the most commonly occurring type of soft tissue tumor in children. However, it is rare in adults, and therefore, very little is known about the most appropriate treatment strategy for adult RMS patients. We performed genomic analysis of RMS cells derived from a 27-year-old male patient whose disease was refractory to treatment. A peritoneal seeding nodule from the primary tumor, pleural metastases, malignant pleural effusion, and ascites obtained during disease progression, were analyzed. Whole exome sequencing revealed 23 candidate variants, and 10 of 23 mutations were validated by Sanger sequencing. Three of 10 mutations were present in both primary and metastatic tumors, and 3 mutations were detected only in metastatic specimens. Comparative genomic hybridization array analysis revealed prominent amplification in the 12q13-14 region, and more specifically, the CDK4 proto-oncogene was highly amplified. ALK overexpression was observed at both protein and RNA levels. However, an ALK fusion assay using NanoString technology failed to show any ALK rearrangements. Little genetic heterogeneity was observed between primary and metastatic RMS cells. We propose that CDK4, located at 12q14, is a potential target for drug development for RMS treatment.
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PMID:Aberrant CDK4 amplification in refractory rhabdomyosarcoma as identified by genomic profiling. 2440 31

Pleural effusions can be the first manifestation, recurrence, or metastasis of small round cell sarcomas in children. The most common are Ewing sarcoma, neuroblastoma, and rhabdomyosarcoma. The cytomorphology is variable, the cells can be cohesive, single cells, small or large, morphologically mimicking lymphomas, carcinomas, melanomas, and mesothelioma depending on the sarcoma involved. Osteosarcomas are rare. Their rarity, variable histomorphologic features, immunophenotypic heterogeneity, being of osseous or extraosseous origin and focality of malignant osteoid matrix make their cytologic recognition a diagnostic challenge. They can be confused with small round cell sarcomas, may be misinterpreted as degenerative inflammatory cells, or masked by florid reactive mesothelial hyperplasia particularly in pleural effusions. However, attention to certain cytomorphologic features in smears and cellblock sections should raise suspicion. We report a case of a 9-year-old child who presented with cough, chest pain and breathing difficulty, left pleural effusion, a collapsed consolidated lower lung lobe, and a clinical impression of pneumonia. Pleural fluid cytology was initially reported as inflammatory effusion with florid reactive mesothelial hyperplasia. Tissue biopsy of the lung mass showed histomorphologic features consistent with osteosarcoma. A careful look at the cytology materials and cellblock sections showed helpful cytomorphologic features that were masked by florid reactive mesothelial cells and misinterpreted as degenerative inflammatory lymphocytes. An extracellular matrix was a helpful hint. Malignant pleural effusion secondary to osteosarcoma is rare. Cytologic examination may help reach the correct diagnosis if the smears and cellblock sections are carefully evaluated for certain helpful cytomorphologic features, particularly osteoid matrix.
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PMID:Osteosarcoma pleural effusion: A diagnostic challenge with some cytologic hints. 3274 68