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)

Cancer, the uncontrolled proliferation of a population of somatic cells, is fundamentally a genetic disorder. Although the specific array of genetic changes causing individual tumor types remains largely obscure, the past two decades have witnessed a tremendous increase in our understanding of the specific genes regulating cell differentiation, proliferation, and senescence. There appear to be two distinct fundamental genetic mechanisms of tumorigenesis. One mechanism is associated with the activation of growth-promoting factors such as proto-oncogenes. Alternatively, tumor formation may be induced as the result of the loss or inactivation of genes which normally regulate or suppress cell growth. These genes have been termed 'tumor suppressor' genes or 'anti-oncogenes'. This review focuses on the role of 'tumor suppressor' genes in tumor formation and growth control of the human nervous system.
Cancer Metastasis Rev 1991 Dec
PMID:Genes associated with tumor suppression and growth control in the human nervous system. 178 29

A patient with epidermodysplasia verruciformis was followed over a ten year period. This rare genetic disorder, characterised by papillomavirus-associated skin lesions and squamous cell carcinomas, is difficult to manage and invariably shortens the lifespan due to metastases from skin carcinomas. In our case, we confirmed the diagnosis using nucleic acid hybridisation, at high stringency, to cloned papillomavirus DNA. Relentless progression of disease occurred despite varied and increasingly vigorous treatment modalities.
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PMID:Epidermodysplasia verruciformis. 248 77

Diseases of the skin and the gastrointestinal tract may occur together. It is important to examine the skin of everyone showing a gastrointestinal problem. Gastrointestinal signs and symptoms in dermatologic diseases may occur with dysphagia, abdominal pain, gastrointestinal bleeding and diarrhea with or without malabsorption. In general the cause is found in a genetic disorder, or it is infectious, drug-induced, inflammatory or related to a malignant disorder. Polyposis are hamartomatous tumors or result as an inflammatory reaction. All these syndromes may present with cutaneous lesions. As malignant degeneration of polyps often develops, the early diagnosis and preventive treatment is crucial. Inflammatory bowel disease is often associated with skin complications such as pyoderma gangrenosum and erythema nodosum. Malignant disorders in the gut may metastasize into the skin or may produce rather typical paraneoplastic changes.
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PMID:[Skin symptoms in gastrointestinal diseases]. 775 66

Many genes originally identified because of their role in embryonic development are also important in postnatal control of cell growth and differentiation. Mutations in some of these genes have been shown to cause cancer. Basal cell carcinoma (BCC) of the skin is the most common cancer in humans. More than 750000 new cases are diagnosed annually, and the incidence is rising. BCCs are slow-growing, locally invasive tumors that rarely metastasize but can result in extensive morbidity through local recurrence and tissue destruction. Epidemiologic studies suggest that sunlight (particularly UVB radiation) is a strong risk factor for BCC formation, although other factors are also involved. The nevoid basal cell carcinoma syndrome (NBCCS), a rare genetic disorder, is characterized by predisposition to BCCs and other tumors as well as to a wide range of developmental defects. NBCCS maps to chromosome 9q22.3, and loss of heterozygosity at this site in both sporadic and hereditary BCCs suggests that it functions as a tumor suppressor. The gene for NBCCS was recently cloned and is the human homologue of the Drosophila gene "patched." Genetic studies in Drosophila show that patched is part of the hedgehog signaling pathway, which is important in determining embryonic patterning and cell fate in multiple structures of the developing embryo. Human patched is mutated in both hereditary and sporadic BCCs, and inactivation of this gene is probably a necessary, if not sufficient, step for BCC formation. Delineation of the biochemical pathway in which patched functions may lead to rational medical therapy for BCCs and possibly for other tumors associated with NBCCS.
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PMID:Developmental genes and cancer: role of patched in basal cell carcinoma of the skin. 926 47

A 20-year-old woman with a four-week history of dysphagia, weight loss of four kilograms and unspecific abdominal pain was admitted because of sudden haematemesis. The physical examination showed a patient with a prominent kyphoskoliosis. The patient reported of having a situs inversus abdominalis and a tethered cord syndrome. Bladder function disorders were present since childhood. Upper endoscopy demonstrated a 4 cm large, exophytically growing necrotic tumour of the oesophagus. The CT scan showed a space occupying tumour of the oesophagus and metastases in a size of 1.5 cm in both lungs. Further imaging revealed a UICC-Stadium IVB (T2NxMIb ). Histology of the tumour biopsies showed a poor differentiated squamous cell carcinoma. Staging after the 6 th dose cisplatin (100 mg/m2/die) and 5-fluorouracil (5 x 1000 mg/m2/die) showed a mild reduction of the tumour and the metastases. The patient died ten months later of multiorgan failure after severe progress of tumour and metastatic growth. The manifestation of squamous cell carcinoma of the oesophagus is unusual in people at the age of twenty. Genetic and chromosomal analysis of the patient gave no evidence for a hereditary disorder. Drug history revealed that the patient had been treated with the alpha-receptor blocking drug phenoxybenzamine over at least 12 years for bladder dysfunction. Animal experiments of rats with exposition of phenoxybenzamine over 24 months produced gastrointestinal malignomas. By the German admission board phenoxybenzamine is only recommended for short term therapy. It seems to be likely that even in humans phenoxybenzamine acts as a mutagenic substance and should be carefully used in long-term treatment.
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PMID:[Haematemesis and dysphagia in a 20-year-old woman with congenital spine malformation and situs inversus partialis]. 1269 37

The putative oncogene, integrin-linked kinase (ILK) is a protein serine/threonine kinase that has been reported to regulate a number of biological properties including anchorage-independent cell cycle progression, tumour cell invasion and apoptosis. Overexpression of ILK has been documented in a wide variety of human malignancies including Ewing's sarcoma (ES), primitive neural ectodermal tumours (PNETs) and prostate tumours (PT). We recently reported that ILK signalling was also dysregulated in patients with the genetic condition familial adenomatous polyposis (FAP), a precursor to colon cancer. In this study, we extended our previous work by investigating the ILK-signalling pathway in sporadic human colon cancer and representative lymph node metastases. The data indicate that the ILK protein is significantly hyperexpressed in malignant acini in relation to normal crypts. Moreover, overexpression of ILK not only coincided with increased MBP phosphotransferase activity but as well with effects on downstream targets like GSK3beta. Based upon the presented data, we propose that ILK signalling is dysregulated early during the development of human colon cancer, and that selective inhibition of this molecule alone or in combination with the standard therapeutic modality might be a more effective means of treating colon cancer.
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PMID:Characterisation of integrin-linked kinase signalling in sporadic human colon cancer. 1467 16

Mafucci's syndrome is a rare genetic but non-hereditary disorder, characterized by multiple enchondromas (enchondromatosis), hemangiomas and, rarely, lymphangiomas. The risk for malignant transformation of enchondromas is very high, and chondrosarcomas can develop which mainly metastatize to the lungs. A case report of a 61-years-old male, whose enchondromatosis developed at his age of 10 years, is described. The initial diagnosis had been Ollier's disease at that time, and it was modified to Mafucci's syndrome only in 1995 when hemangiomatosis developed on the right hand. He had a unilateral disorder affecting his right upper and lower extremities. In 2010, a chondrosarcoma developed on his right leg and amputation was performed. In 2012, a thoracic CT scan revealed pulmonary metastases on both sides. This case report underlines the importance of the multidisciplinary approach and cooperation between various specialties in diagnosing and early detecting this type of cancer. Orv. Hetil., 2012, 153, 1035-1038.
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PMID:[Chondrosarcoma in Mafucci's syndrome -- an interdisciplinary approach to a rare disease]. 2273 75

Neurofibromatosis type 1 (NF1) is a genetic disorder that predisposes patients to the formation of sporadic tumors and also increases the risk of radiation-induced malignancies. The most commonly described radiation-induced tumor in NF1 patients is a malignant peripheral nerve sheath tumor. We present 2 children with NF1 who received radiation therapy and subsequently developed high-grade gliomas. We then review the current literature on radiation-induced tumors in NF1 patients. Although radiation may be the most appropriate therapy in specific situations for children with NF1, the secondary tumor risk should be carefully considered.
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PMID:Radiation-induced gliomas in 2 pediatric patients with neurofibromatosis type 1: case study and summary of the literature. 2413 23

Zollinger-Ellison syndrome (ZES) is an endocrinopathy characterized by gastrin-secreting tumors, responsible for causing the formation of multiple, refractory, and recurrent peptic ulcers in the distal duodenum and proximal jejunum. Two main variants have been described, sporadic and those found in association with parathyroid and pituitary tumors, a genetic disorder known as multiple endocrine neoplasia-1 (MEN-1). Biochemical serum evaluation for elevated gastrin, followed by radiological or nuclear localization of the primary lesion, is mandated for establishing diagnosis. The mainstays of treatment include management of hypersecretory state with medical suppression of gastric acid production and surgical resection of primary tumor for the prevention of malignant transformation and metastatic complications. Medical therapy with proton pump inhibitors has virtually eliminated the need for acid-reducing surgical procedures. Surgical approach to sporadic and MEN-1-associated ZES varies based on our understanding of the natural history of the condition and the probability of cure; however, resection to a negative microscopic margin is indicated in both cases. Postoperative surveillance involves measurement of gastrin level, followed by imaging if elevation is detected. Re-excision of recurrent or resection of metastatic disease is a subject of controversy; however, at the present time aggressive cytoreductive approach is favored.
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PMID:Zollinger-Ellison syndrome: classical considerations and current controversies. 2431 20

This narrative literature review addresses the problem of an adnexal mass discovered during the course of breast cancer (BC) care, which may represent a benign condition, a metastatic process, or a primary ovarian cancer (OC), clinical scenarios associated with distinct physiopathology and prognosis. Furthermore, the coexistence of BC and OC in the same patient may be owing to a hereditary disorder, deserving specific management strategies and counseling. The initial detection and evaluation of an adnexal mass in a patient with BC requires a high index of suspicion, and the initial workup should include a thorough medical history and physical examination, measurement of tumor markers, complete blood count, and imaging tests. Transvaginal ultrasonography remains the standard tool, and findings suggestive of malignancy include bilateral tumors, thick septations, predominance of a solid component, Doppler flow to the solid component, and ascites. From the pathology point of view, features that are suggestive of metastatic disease include bilaterality, mild ovarian enlargement, vascular emboli, no omental deposits, and the absence of transition from benign to malignant epithelium. Although there is a considerable overlap in OC and BC immunohistochemical profiles, BC usually stain positive for GCDFP-15 and negative for vimentine, PAX8, and WT1, and OC often stain positive for CK7, PAX8, WT1, and to mesothelin. Genetic counselling should always be indicated in this clinical scenario. In conclusion, diagnostic spectrum of an ovarian mass in a patient with BC is broad, and a systematic multi-professional strategy is necessary to conduct these challenging cases.
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PMID:The Challenge of Evaluating Adnexal Masses in Patients With Breast Cancer. 2968 Jan 94


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