Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pleomorphic rhabdomyosarcoma is an extremely rare and highly malignant neoplasm. We report an unusual case of a 14-year-old boy with skeletal metastases from a primary cardiac tumor. Fine needle aspiration biopsy of a lytic lesion in the right iliac wing showed a pleomorphic population of clusters and single cells with hyperchromatic nuclei; granular, pink cytoplasm; and isolated, large cells with whiplike or globoid cytoplasmic processes and occasional striations. Histologic, ultrastructural and radiologic features are also presented.
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PMID:Pleomorphic rhabdomyosarcoma of the heart metastatic to bone. Report of a case with fine needle aspiration biopsy findings. 776 52

Pleomorphic rhabdomyosarcoma is the most common variant of this tumour in adults and has a very poor outcome. Two genes which are known to play a role in rhabdomyosarcoma development are KRas and p53. In the majority of human tumours, p53 abnormalities are point mutations that result in the expression of a mutant form of the protein. It is now hypothesized that these mutant forms of p53 may be playing an oncogenic role, over and above simple loss of the wild-type function. In this study, we use Cre-LoxP technology to develop a novel mouse model of rhabdomyosarcoma, crossing mice expressing a common KRas mutation (G12V) with mice that either lose p53 expression or express a mutant form of p53. We use this model to explore the different effects of p53 loss and mutation in the setting of an activating KRas mutation. We found that either complete loss of p53 (p53(fl/fl)) or the expression of one mutant p53 allele with concomitant loss of the second allele (p53(R172H/+)) resulted in the rapid development of rhabdomyosarcoma in 15/16 and 19/19 mice, respectively. In contrast, there was a marked difference between mice which lose a single copy of p53 (p53(fl/+)) and mice expressing a single copy of mutant p53 (p53(172H/+)). Fourteen out of 16 p53(R172H/) mice developed rhabdomyosarcoma, compared with two out of 31 p53(fl/+) mice. As a consequence of this, p53(fl/+) mice had a median lifespan nearly double that of the p53(R172H/+) mice. To underline the enhanced effect of p53 mutation in tumour progression, metastases were seen only in those mice which expressed the mutant form. These data demonstrate that mutant p53 can co-operate with activated, mutant KRas to influence tumourigenesis and metastatic potential, over and above simple loss of normal protein function.
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PMID:p53 mutation and loss have different effects on tumourigenesis in a novel mouse model of pleomorphic rhabdomyosarcoma. 2082 51

Pleomorphic rhabdomyosarcoma (RMS) is a rare tumor with an aggressive behavior, described mainly in adulthood. Herein we present two cases of paratesticular pleomorphic RMS in 71- and 16-year-old patients with metastases at initial diagnosis. Histological, immunohistochemical, and ultrastructural findings were essential to confirm diagnosis. Few months after radical orchiectomy, both patients died before or just after starting adjuvant chemotherapy.
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PMID:Paratesticular pleomorphic rhabdomyosarcoma: a report of two cases. 2347 81