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)

While magnetic resonance imaging (MRI) is not a screening examination in the search for metastatic disease, it has already demonstrated its value when performed as a carefully directed study to detect focal hepatic lesions. In the past 18 months we have encountered nine patients (six men, three women--ages 14-66) with a variety of primary tumors (renal cell carcinoma, two; colon carcinoma, two; hepatocellular carcinoma, two; pancreatic carcinoma, one; pheochromocytoma, one; rhabdomyosarcoma, one) whose MR scans revealed hepatic metastases after normal or nondiagnostic computed tomographic (CT) scans. The lesions were most clearly demonstrated using spin echo (SE) technique with recovery times (TR) of 2.0 seconds and delay times (TE) of 56 msec; metastases usually imaged with greater signal intensity than surrounding liver parenchyma. Lesions were solitary in three patients, multiple in six, and were found in all hepatic lobes without any specific location predominating. Pathologic confirmations of MR diagnoses were available in six of nine patients. In two patients, CT scans were of poor technical quality because streak artifacts from surgical clips obscured portions of the liver. In one patient iodinated contrast medium could not be given. In the remaining six patients CT scan quality was acceptable. This report is not a comparison study of the two modalities. We simply present nine patients in whom metastases were not detected by CT for various reasons but were found by MRI using SE technique.
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PMID:Magnetic resonance imaging diagnosis of hepatic metastases in the presence of negative CT studies. 408 52

The growth and metastatic spread of human tumours in immunosuppressed hamsters is described. A variety of human tumours were transplanted to the flank or the cheek pouch of the hamsters. Immunosuppression was obtained by combined thymectomy and ATS treatment. In the period up to 4 months after implantation, metastases to the lungs were observed with carcinomata of breast, colon, larynx and kidney; also melanoma, rhabdomyosarcoma, fibrosarcoma and teratoma of testis. Fourteen of 20 different tumours implanted metastasized to the lungs. Only 2 tumours, a hypernephroma and a melanoma, became established at the site of implantation; the remainder regressed even though the tumour was proliferating in the lungs.
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PMID:Metastatic spread of human tumour implanted into thymectomized, antithymocyte serum treated hamsters. 504 42

The histological diagnosis of malignant fibrous histiocytoma (MFH) seems to have become recently fashionable among pathologists, although its histogenesis and diagnostic criteria are not entirely settled as yet. For practical purposes the differential diagnosis with other easily mistakable mesenchymal tumors should be strictly made with great caution, because of variable histological features of this tumor. The authors attempted to elucidate the differential points from other tumors in a review of 189 cases of malignant soft tissue tumors. Some cases of carcinoma mimicking MFH were also reviewed. No single criterion for making the histological diagnosis of MFH was obtained. Its histological features and differential points from pleomorphic rhabdomyosarcoma and fibrosarcoma were tabulated. The recognition of a true tumor osteoid was emphasized as a single differential point between osteosarcoma and MFH often with fibrous areas mimicking osteoid. Renal cell carcinoma metastasizing to bone, which was misinterpreted as MFH on biopsy tissue, was also described and its differential point was stated.
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PMID:Malignant fibrous histiocytoma with special reference to its differential diagnosis. 625 39

Tumour invasion of the inferior vena cava (IVC) is a complication of retroperitoneal tumours that can be identified at the time of ultrasound B scanning. We have recognized nine patients with proven IVC tumour thrombus from such tumours and have noted several common ultrasound features. Six of these cases were associated with renal carcinoma, two with metastatic teratoma and one with rhabdomyosarcoma. The typical appearance included abnormal echogenic solid material in the lumen of the vessel. In sagittal section the anterior wall was domed as it stretched over the thrombus, and on real time scanning there was loss of the normal venous pulsations. Although similar abnormalities occur with non-tumour thrombus, the presence of these typical features in association with a retroperitoneal tumour is likely to represent tumour invasion of the IVC, an important observation for accurate staging and subsequent management.
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PMID:Ultrasound features of tumour thrombus in the IVC in retroperitoneal tumours. 729 17

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

We described a patient with Beckwith-Wiedemann syndrome associated with rhabdomyosarcoma (RMS), and renal cell carcinoma (RCC). Karyotypes of peripheral lymphocytes and RMS cells were normal. DNA analyses showed maternal loss of heterozygosity (LOH) at 11p15 region in RMS but not in RCC. The insulin-like growth factor II gene (IGF2) was found to be expressed at a moderate level in RMS but not in RCC by in situ hybridization. Each of parental allele-derived IGF2 transcript was detected in RCC, while maternal allele-derived transcript was weak in RMS because of maternal LOH. These results suggest that (1) loss of imprinting (LOI) of IGF2 might be responsible for BWS, (2) on the other hand, LOI itself might not induce tumor occurrence in tissues where the control of tissue-specific expression of IGF2 is maintained, (3) increased expression of IGF2 due to maternal loss of a putative controller gene for IGF2 at 11p15 might predispose to sustaining tumorigenic mutations and tumor progression, (4) loss of a putative onco-suppressor gene at 11p15 might induce RMS occurrence. The cause of RCC was thought to be different from that of RMS.
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PMID:Molecular analysis of a patient with Beckwith-Wiedemann syndrome, rhabdomyosarcoma and renal cell carcinoma. 808 40

We report the case of a patient with Beckwith-Wiedemann syndrome (BWS) who developed renal cell carcinoma (RCC). At birth, this patient presented with macroglossia, diastasis recti, mild gigantism, hepatomegaly and hypoglycemia, and the diagnosis of BWS was made. At 22 months, an intrapelvic rhabdomyosarcoma was detected and resected. At 37 months, computed tomography (CT) demonstrated a small mass with high attenuation in the right kidney, which was surgically confirmed to be RCC.
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PMID:Renal cell carcinoma in a patient with Beckwith-Wiedemann syndrome. 865 57

Malignant metastasis to the breast, rare in adults, has occurred in children from hematologic malignancies and from neuroblastoma and rhabdomyosarcoma. We report a case of bilateral breast metastases in a 14-year-old girl with a prior nephrectomy for renal cell carcinoma; the breast masses were the first sign of recurrence.
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PMID:Renal carcinoma: bilateral breast metastases in a child. 912 80

We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including a childhood case of choroid plexus tumour. Using direct sequencing, we analysed exons 5-9 of the p53 gene in constitutional DNA of individuals from both families and found two novel germline mutations in exon 5. In family A, we detected a point substitution in codon 138 (GCC to CCC), which resulted in the replacement of the alanine by a proline residue. Family B harboured a single-base pair deletion in codon 178 (CAC to -AC), resulting in a frameshift and premature chain termination. Three out of six tumours examined from both families, a renal cell carcinoma, a rhabdomyosarcoma and a breast cancer, showed loss of heterozygosity and contained only the mutant p53 allele. The remaining three neoplasms, both adrenocortical tumours and the choroid plexus tumour retained heterozygosity. Immunohistochemistry with anti-p53 antibody confirmed accumulation of p53 protein in tumours with loss of heterozygosity, while the remaining tumours were p53 negative. These results support the view that complete loss of activity of the wild-type p53 need not be the initial event in the formation of all tumours in Li-Fraumeni individuals.
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PMID:Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours. 956 35

Hyalinizing clear cell carcinoma (HCCC) is a rare, recently described tumor of salivary gland origin. Differential diagnosis includes benign lesions as clear cell change in a pleomorphic adenoma or in oncocytoma and malignant tumors - i.e. epithelial-myoepithelial carcinoma, polymorphous low-grade adenocarcinoma, mucoepidermoid carcinoma, clear cell acinic carcinoma, clear cell squamous carcinoma, clear cell malignant melanoma, clear cell odontogenic carcinoma, clear cell rhabdomyosarcoma, sebaceous carcinoma and metastasis of renal carcinoma. A favorable prognosis after wide local excision has been evidenced. Three new cases of HCCC (2 in the oral cavity and 1 in the parotid gland) are presented.
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PMID:Hyalinizing clear cell carcinoma of the oral cavity and of the parotid gland. 1124 74


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