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)

Adrenal cortical carcinosarcoma is a rare variant of adrenal cortical carcinoma. Sarcomatous change in adrenal cortical carcinomas is exceptionally rare, with only 9 cases previously described. Adrenal cortical carcinosarcomas tend to be aggressive tumors, with locoregional recurrence and rapid metastases from the sarcomatoid component. We describe what seems to be the first case of sarcoma arising in oncocytic adrenal cortical carcinoma. The sarcomatous component here was pleomorphic rhabdomyosarcoma. This occurred in a 45-year-old man who had nodal and pulmonary metastases of the rhabdomyosarcomatous component at presentation and who died of progressive disease 11 months later. Here, we discuss the clinical, radiologic, and pathologic findings and review the literature on adrenal cortical carcinosarcomas.
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PMID:Oncocytic adrenal cortical carcinosarcoma with pleomorphic rhabdomyosarcomatous metastases. 2234 39

The purpose of our study was to investigate the prevalence of the PAX3/7-FKHR fusion genes and quantify the IGF2 gene expression in rhabdomyosarcoma (RMS) samples. Soft tissue sarcomas account 5% of childhood cancers and 50% of them are RMS. Morphological evaluation of pediatric RMS has defined two histological subtypes, embryonal (ERMS) and alveolar (ARMS). Chromosomal analyses have demonstrated two translocations associated with ARMS, resulting in the PAX3/7-FKHR rearrangements. Reverse transcriptase-polymerase chain reaction (RT-PCR) is extremely useful in the diagnosis of ARMS positive for these rearrangements. Additionally, several studies have shown a significant involvement of IGF pathway in the pathogenesis of RMS. The presence of PAX3/7-FKHR gene fusions was studied in 25 RMS samples from patients attending the IOP-GRAACC/UNIFESP and three RMS cell lines by RT-PCR. IGF2 gene expression was quantified by qPCR and related with clinic pathological parameters. Of the 25 samples, nine (36%) were ARMS and 16 (64%) were ERMS. PAX3/7-FKHR gene fusions expression was detected in 56% of ARMS tumor samples. IGF2 overexpression was observed in 80% of samples and could indicate an important role of this pathway in RMS biology.
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PMID:Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdomyosarcoma tumors. 2307 86

Objective. To describe the course of events that followed from the time of the diagnosis to the management of a rare case of recurrent inverted papilloma presenting as an acute proptosis. Methods. A seventy-year-old diabetic female patient presented with a painful left eye proptosis for 15 days. She had a history of resection of inverted papilloma of paranasal sinus followed by radiotherapy for eight years before. The examination revealed a 23 mm proptosis, with restricted ocular movements, corneal oedema, funnel shaped anterior chamber, and total retinal detachment with a complete visual loss. The lobulated fixed hard mass was palpable circumferentially but more in the inferior orbital compartment. The transconjunctival incisional biopsy showed features of highly undifferentiated cytology. The lid sparing exenteration was done under general anesthesia with cosmetic reconstruction. Results. Immunohistochemistry of exenterated mass was doubtfully suggestive of a small cell tumor. However, histopathology confirmed features of rhabdomyosarcoma. Conclusion. The present case study revealed rhabdomyosarcoma cytology presenting as an association-inverted papilloma. Abbreviations : IP = Inverted papilloma, PNS = Paranasal sinus, SCC = Squamous cell carcinoma, IOP = Intraocular pressure, CT = Computed tomography.
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PMID:Recurrent inverted papilloma of paranasal sinus presenting as acute proptosis. 2945 Mar 58