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

Activated c-Ki-ras with a point mutation (GGT to CGT) at codon 12, resulting in the substitution of arginine for glycine, was found in DNA from metastatic pancreatic adenocarcinoma in a lymph node. By means of restriction endonuclease length polymorphism with SacI digestion, we were able to demonstrate that the same point mutation of c-Ki-ras was present in the primary tumor and in metastases in lymph nodes. DNA from the normal spleen of the patient did not have this type of point mutation. Moreover, amplifications of 3- to 6-fold of the activated c-Ki-ras and 50-fold of c-myc were found in the primary tumor and the metastases in the two lymph nodes, indicating that point mutation had occurred at a relatively early stage of the tumor development, before amplification of the gene. This is the first clear demonstration of amplification of activated c-Ki-ras accompanied by amplification of c-myc in both primary and metastatic human tumors in vivo.
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PMID:Amplifications of both c-Ki-ras with a point mutation and c-myc in a primary pancreatic cancer and its metastatic tumors in lymph nodes. 300 77

Non-familial human adrenocortical adenomas and carcinomas were screened for mutations in exons 5-8 of the p53 tumor suppressor gene by single-strand-conformation-polymorphism (SSCP) analysis, followed by direct sequencing of PCR-amplified DNA. Point mutations in codons 12, 13 and 61 in H-ras, K-ras and N-ras proto-oncogenes were similarly assessed by direct DNA sequencing. Three out of 15 primary adrenocortical carcinomas (20%) contained a mis-sense point mutation in the conserved regions (exons 5 and 8) of the p53 gene. Mutations were located in codon 157 (GTC-->TTC; Val-->Phe), codon 163 (TAC-->AAC; Tyr-->Asn), and codon 273 (CGT-->TGT; Arg-->Cys). The mutation in codon 157 was detected in the primary tumor as well as in brain and lymph-node metastases. Among 18 adrenocortical adenomas, there was only a single non-miscoding mutation in codon 295 (CCT-->CCC; Pro-->Pro). These data suggest that mutational inactivation of the p53 gene occurs in a minority (20%) of sporadic adrenocortical carcinomas and that these mutations constitute a late event in the multi-step process of malignant transformation. No ras mutations were detected in any of these tumors, suggesting that these genes are not involved in the development of tumors originating from the adrenal cortex.
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PMID:p53 mutations in sporadic adrenocortical tumors. 850 16

Lymph node metastasis is commonly found in esophageal squamous cell carcinoma (SCC). In this study, we examined the molecular and genetic characteristics of a human esophageal SCC cell line, T.Tn. T.Tn cells formed tumors at s.c. tissue in nude mice when inoculated with Matrigel, but did not metastasize to any organs. T.Tn cells expressed low level of proMMP2 and a trace level of proMMP9. However, T.Tn cells expressed high level of TIMP1 and TIMP2, and beta-catenin and E-cadherin. We found a point mutation of p53 gene at codon 213 (CAT-->CGT) in T.Tn cells. The mutated-p53 protein did not show transcriptional activity on p21(waf1), MDM2 and Bax promoters. Thus, T.Tn cells are low tumorigenic and weakly invasive but not metastasizing in nude mice, and T.Tn cells are suitable parental cells for establishing a model system to study invasion and metastasis of esophageal SCC.
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PMID:Molecular and genetic characterization of a non-metastatic human esophageal cancer cell line, T.Tn expressing non-functional mutated p53. 1216 98

The authors report the case of a 16-year-old male who presented with a bifocal diencephalic tumor arising both in the neurohypophysis and the pineal region with hydrocephalus. The histological diagnosis obtained during endoscopic ventriculocisternostomy was germinoma. MRI revealed an increase of the neoplasm during chemotherapy with recurrent obstructive hydrocephalus. A new ventriculostomy was performed followed by total surgical resection. The final histopathological analysis demonstrated an immature teratoma. Subsequently, this patient developed metachronous cystic metastases in the cerebello-pontine angles, which were resected and identified as mature teratoma, then we observed a lesion of the brachium conjunctivum which stayed stable after 29 consecutive months. The patient is alive and feels well 6 years after the initial diagnosis and 5 years after the first metastasis. To our knowledge, this is the fifth case of the growing teratoma syndrome located in the brain but the first case with simultaneously bifocal location and infratentorial disseminated metastasis. Obviously surgical removal is the treatment of reference for teratomas. Metastases of teratoma can be mature and may be amenable to surgery with a favorable outcome. Primary intracranial germ-cell tumors (CGT) arise in the midline of the brain and are located in the diencephalon. The peak incidence occurs during the second decade of life. Germ cell tumor (CGT) includes germinomas and non-germinomatous tumors, mature and immature teratomas account for 19.6 % [1]. Curiously, teratomas are able to grow during the first weeks of chemotherapy while serum markers remain normal. This situation was originally described and designed as "the growing teratoma syndroma" (GTS) in primary testis tumors by Logothetis in 1982 [2]. Here we report the rare occurrence of a GTS in a teenager who presented metachronous cystic metastases located in posterior fossa which were histologically mature.
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PMID:Bifocal mixed germ-cell tumor with growing teratoma syndrome and metachronous mature metastases: case report. 1934 53