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)

Carney triad is a rare non-hereditary condition affecting young females and characterized by metachronous or synchronous occurrence of epithelioid gastrointestinal stromal tumours (GISTs), pulmonary chondroma and extra-adrenal paraganglioma. The genetic alterations in Carney triad-related GISTs have not been well studied. We evaluated GISTs from three females with incomplete Carney triad for KIT and PDGFRA mutations and studied the DNA by comparative genomic hybridization (CGH). All GISTs originated in the antrum and had a monotonous epithelioid morphology. Two patients had GISTs and pulmonary chondroma and one had GISTs and paraganglioma. Initial manifestation was GIST (n=1), pulmonary chondroma (n=1) and bladder paraganglioma (n=1). Time to the second component was 2-13 years. Two patients were alive at 108 and 168 months (one with metastases) and one died of the disease 3 years later. All cases were wild-type for KIT exons 9, 11, 13, 17 and PDGFRA exons 12 and 18. CGH revealed 14 aberrations (mean, 4.7/tumour) including 11 gains (X, 1q, 5p, 8q, 9p, 12p, 13q, 18p, 19q), 2 amplifications (1q, 19p) and one loss (13q). Carney triad-related GISTs do not only lack conventional KIT and PDGFRA mutations, but they also lack the non-random loss of 14q and 22q characteristic of their sporadic counterparts, suggesting an origin through a distinct pathogenetic pathway.
 ...
PMID:Epithelioid gastric stromal tumours of the antrum in young females with the Carney triad: a report of three new cases with mutational analysis and comparative genomic hybridization. 1754 39

We report a female teenager who presented with a gastrointestinal stromal tumor of the stomach and a paraganglioneuroma. She later developed a pulmonary chondroma, fulfilling the requirements of Carney's triad. This patient demonstrates the course of the disease, which included severe emotional symptoms. She died, at 30 years of age, 16 years after the onset of disease, riddled with metastases. Many patients with Carney's triad survive for many years, but we can not predict the prognosis in any patient. During her lifetime, the patient had considerable emotional suffering, perhaps because of her disease.
 ...
PMID:Carney's triad: a 16-year follow-up. 1770 15

Carney triad, as originally described in 1977, was the association of 3 tumors: gastric epithelioid leiomyosarcoma [later renamed gastrointestinal stromal tumor (GIST)], extra-adrenal paraganglioma, and pulmonary chondroma. The disorder affected mostly young women and was not familial. We studied the clinical and pathologic features of the gastric neoplasm in 104 patients with the syndrome. Most (88%) were young women (mean age, 22 y), and the usual presentation was gastric bleeding. The tumors, commonly antral-based (61%), were multifocal, and ranged from 0.2 to 18.0 cm in dimension. Most (86%) featured round and polygonal (epithelioid) cells. Metastasis occurred in 49 patients (47%): to gastric lymph nodes (29%), liver (25%), and peritoneum (13%). Immunopositivity was detected in the tumors tested as follows: KIT, 100%; CD34, 75%; PKCtheta, 21%; PDGFRA, 90%; and smooth muscle actin, 6%. Fourteen patients (13%) died of metastatic GIST at a mean age of 45 years (range, 30 to 69 y). Estimated 10 and 40-year survivals were 100% and 73%, respectively. Median survival time was 26.5 years (range, 16 to 60 y). There was no correlation between the National Institutes of Health tumor risk classification and the tumor behavior. Compared with sporadic gastric GISTs, the gastric stromal tumor in Carney triad showed distinctive features: female predilection, young patient age, epithelioid cell predominance, multifocality, frequent lymph node metastasis, serial tumor occurrence, and unpredictable behavior. Thus, the Carney triad gastric stromal tumor is different clinically, pathologically, and behaviorally from sporadic gastric GIST.
 ...
PMID:Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. 1993 59

The Carney triad (CT) is gastrointestinal stromal tumor (GIST), paraganglioma, and pulmonary chondroma. The GISTs of CT show different clinical, molecular, and morphologic features to usual adult GISTs but are similar to the majority of pediatric GISTs. We postulated that these GISTs would show negative staining for succinate dehydrogenase B (SDHB). We performed SDHB immunohistochemistry on GISTs arising in 5 individuals with CT, 1 child, 7 individuals with GIST in young adulthood including 2 with germline KIT mutations, 3 individuals with neurofibromatosis 1, one 63-year-old female with multifocal gastric epithelioid GIST with lymph node metastases, and 104 consecutive unselected individuals with apparently sporadic GIST. The GISTs and paragangliomas arising in CT, the pediatric GIST, and the multifocal gastric GIST from the 63-year-old showed negative SDHB staining. GISTs from the 7 young adults and 3 with neurofibromatosis were SDHB positive. Of the unselected GISTs, 101 (97%) were positive. One of the negative GISTs arose in a 48-year-old female with previous recurrent multifocal gastric GISTs and the other 2 arose in females also in their 40s with gastric GISTs with epithelioid morphology. We conclude that negative staining for SDHB is characteristic of the GISTs of CT and the subgroup of pediatric GISTs which it resembles. Furthermore, when negative staining occurs in apparently sporadic GISTs in adults, the GISTs show morphologic and clinical features similar to pediatric and CT type GISTs. GISTs may therefore be divided into type 1 (SDHB positive) and type 2 (SDHB negative) subtypes.
 ...
PMID:Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. 2030 38

Primary tumors of the heart are rare entities, substantially less frequent than cardiac metastases. Primary chondroma is an exceptionally rare cardiac tumor. We describe the case of a patient presenting with acute pulmonary edema with the incidental echocardiographic finding of a large left atrial tumor that was histopathologically diagnosed as primary cardiac chondroma.
 ...
PMID:Extremely rare case of primary cardiac chondroma in a patient presenting with acute pulmonary edema. 2088 54

Primary vertebral tumors, although less common than metastases to the spine, make up a heterogeneous group of neoplasms that can pose diagnostic and treatment challenges. They affect both the adult and the pediatric population and may be benign, locally aggressive, or malignant. An understanding of typical imaging findings will aid in accurate diagnosis and help neurosurgeons appreciate anatomic subtleties that may increase their effective resection. An understanding of the histological similarities and differences between these tumors is imperative for all members of the clinical team caring for these patients. In this first review of 2 parts, we discuss the epidemiological, histological, and imaging features of the most common benign primary vertebral tumors-aneurysmal bone cyst, chondroma and enchondroma, hemangioma, osteoid osteoma, and osteoblastoma-and lesions related to eosinophilic granuloma and fibrous dysplasia. In addition, we discuss the basic management paradigms for each of these diagnoses. In combination with part II of the review, which focuses on locally aggressive and malignant tumors, this article provides a comprehensive review of primary vertebral tumors.
 ...
PMID:Primary vertebral tumors: a review of epidemiologic, histological, and imaging findings, Part I: benign tumors. 2172 52

Most gastrointestinal stromal tumors (GISTs) are driven by KIT or PDGFRA-activating mutations, but a small subset is associated with loss of function of the succinate dehydrogenase (SDH) complex of mitochondrial inner membrane proteins. This occurs by germline mutations of the SDH subunit genes and hitherto unknown mechanisms. SDH-deficient GISTs especially include pediatric GISTs and those associated with Carney triad (CT) or Carney-Stratakis syndromes (CSSs); the latter 2 also include paraganglioma as a component. SDH-deficient GISTs were identified in this study on the basis of immunohistochemical loss of succinate dehydrogenase subunit B (SDHB), which signals functional loss of the SDH complex. We found 66 SDH-deficient GISTs among 756 gastric GISTs, with an estimated frequency of 7.5% of unselected cases. Nearly, all gastric GISTs in patients <20 years, and a substantial percentage of those in patients <40 years, but only rare GISTs in older adults were SDH deficient. There was a female predominance of over 2:1. Two patients each had either pulmonary chondroma or paraganglioma (CT), but none of the examined cases had SDH germline mutations (CSS) or somatic KIT/PDGFRA or BRAF mutations. SDH-deficient GISTs were often multiple and typically showed plexiform muscularis propria involvement and epithelioid hypercellular morphology. They were consistently KIT-positive and DOG1/Ano 1-positive and almost always smooth muscle actin negative. Tumor size and mitotic activity varied, and the tumors were somewhat unpredictable with low mitotic rates developing metastases. Gastric recurrences occurred in 11 patients, and peritoneal and liver metastases occurred in 8 and 10 patients, respectively. Lymph node metastases were detected in 5 patients, but lymphovascular invasion was present in >50% of cases studied; these 2 were not related to adverse outcome. Seven patients died of disease, but many had long survivals, even with peritoneal or liver metastases. All 378 nongastric GISTs and 34 gastric non-GIST mesenchymal tumors were SDHB positive. SDH-deficient GISTs constitute a small subgroup of gastric GISTs; they usually occur in children and young adults, often have a chronic course similar to that of pediatric and CT GISTs, and have potential association with paraganglioma, necessitating long-term follow-up.
 ...
PMID:Succinate dehydrogenase-deficient GISTs: a clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. 2199 92

Approximately one out of 500 chest radiographs shows the incidental finding of a solitary pulmonary nodule and almost one half of these pulmonary lesions are caused by a tumor. Unfortunately, only 2% to 5% of all lung tumors are of benign origin, e. g. lipoma, fibroma, hamartoma, and chondroma, and the majority are malignant neoplasms, most commonly primary lung cancer followed by metastases of extrapulmonary primary carcinomas. Thus, a careful diagnostic work up of solitary pulmonary nodules, including histological diagnosis, is mandatory for an adequate management and treatment of patients with pulmonary lesions. Despite all recent improvements of treatment modalities, lung cancer continues to be a major cause of morbidity and mortality among malignant diseases worldwide. The prognosis of affected patients is still very poor and a 5-years survival rate of only 14% makes lung cancer the number one cause of death due to cancer in Switzerland. Active and passive tobacco smoking are by far the best known risk factor for the development of lung cancer, but there are severe other probably less known factors that may increase the individual risk for malignant neoplasms of the lung. These risk factors include e. g. exposure to natural ionic radiation, consisting of terrestrial radiation and indoor radiation caused by radon gas, exposure to respirable dust and Diesel engine emissions, asbestos, and polycyclic aromatic hydrocarbons. In the majority of cases, the latency between exposure and development of cancer is years to decades and the person concerned was occupationally exposed. Therefore, a detailed evaluation of a patient's medical and occupational history is needed. Due to its poor prognosis, prevention and early diagnosis of lung cancer is crucial to improve our patients' outcome. Good knowledge of epidemiology and aetiology of pulmonary tumors is the key to preventive measures and identification of individuals at increased risk for lung cancer. An overview will be provided on the epidemiology of lung tumors and predominantly preventable risk factors for lung cancer.
 ...
PMID:[Epidemiology of lung tumors]. 2275 85

Between 1992 and 2011, 22 patients underwent surgery of reconstruction of thoracic wall with curved metal plates for multiple rib fracture and resection of thoracic wall tumor. They were divided into 2 groups according to original disorders. Twelve cases of group A accepted surgical stabilization of traumatic multiple rib fractures with the metal plates fixed on the fractured ribs as an external brace. Ten patients of group B were suffered from thoracic wall tumors, including 1 fibrous dysplagia, 1 chondroma, 5 invasive lung cancer, 2 rib metastases and 1 primary chest wall cancer. After the resection of tumors, an average of 3.2 ribs were removed, the defects of full thickness chest wall were reconstructed using a combination of a polypropylene mesh and the metal plates. In both groups, there were no displacement of the plates and allergic reaction. Only 2 patients needed removal of the fixed plates due to pyothorax caused by pneumonia after crushing thoracic injuries. The long metal reconstruction plates with many perforations were very useful for reconstruction of chest wall because they were long enough to cover the whole length of widely resected chest defects and moderately soft enough to be appropriately bent or twist by hand at the time of operation. Moreover long-term result of the reconstructed chest wall was safe and satisfactory without severe complication.
...
PMID:[Evaluation of long-term results in patients who underwent reconstruction of thoracic wall with curved metal plates]. 2474 14

Carney triad is a rare syndrome involving gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma. We present a 21-year-old woman with the complete triad who was evaluated with MRI, F-FDOPA, F-FDA, and F-FDG. F-FDOPA best demonstrated the paraganglioma, whereas hepatic metastases noted by MRI demonstrated increased uptake only by F-FDG.
...
PMID:Combined PET/CT by 18F-FDOPA, 18F-FDA, 18F-FDG, and MRI correlation on a patient with Carney triad. 2542 47


<< Previous 1 2 3 4 5 Next >>