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)

Papillary renal cell carcinoma (PRCC) can display extensive areas of solid and non-papillary architecture and extensive areas with oncocytic cytoplasm. Eleven oncocytic renal cell neoplasms (ORCN) with histopathological features posing a diagnostic problem between renal cell carcinoma (RCC) with oncocytic features and renal oncocytoma (RO) were identified. The neoplasms were well circumscribed or encapsulated tumors with solid and diffuse growth pattern. Very occasional papillae were seen in four and tumoral necrosis in two of 11. Six ORCN displayed a CD117+/progesterone receptor (PR)+ immunophenotype (feature shared by RO) and five tumors displayed a CD117-/PR- immunophenotype (feature shared by RCC). The CD117-/PR- ORCN also displayed alpha-methylacyl-coenzyme A racemase and RCC antigen reactivity as well as varying reactivity for cytokeratin 7, vimentin and CD10 (features of oncocytic PRCC). These five cases had tumor sizes ranging from 1 to 6 cm. Two patients in the latter group developed progression of the disease with metastases. In conclusion, oncocytic PRCC with solid architecture is a rare type of RCC. The carcinoma often poses differential diagnostic problems with RO and has similar immunohistochemical properties to the common type of PRCC. Cytogenetic and molecular studies have not been performed yet for this variant of RCC.
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PMID:Oncocytic papillary renal cell carcinoma with solid architecture: mimic of renal oncocytoma. 1825 79

Sarcomas involving the lung are a rare occurrence, often a result of metastatic disease from primary malignancies involving the skin, liver, breast or heart. Primary pulmonary artery sarcomas are rarer still, with limited cases reported world-wide and consequently data regarding treatment modalities are sparse and largely experimental. These tumors are often mistaken for a pulmonary embolism and seemingly supported by radiological findings. Patients will often present without symptom resolution despite therapeutic anticoagulation. The following case illustrates how a soft tissue sarcoma of the pulmonary artery can mimic a pulmonary embolism, thus, resulting in both a diagnostic and therapeutic dilemma. A positron emission tomography scan was an invaluable tool in this case, showing increased radiotracer uptake and placing neoplasm at the top of the differential diagnosis. This ultimately led to a biopsy that was vimentin positive, cytokeratin negative and CD117 negative, thus consistent with soft tissue sarcoma.
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PMID:Pulmonary artery sarcoma mimicking a pulmonary embolism. 1862 58

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. They originate from the myenteric ganglion cells, termed the interstitial Cajal cells. The majority, i.e. 95% of GIST, show expression of the membrane receptor protein CD117 with a tyrosine kinase activity c-kit. Gastrointestinal stromal tumors constitute less than 1% of all digestive tract tumors. They may be benign or malignant (30%), and occur in every part of the gastrointestinal tract, however the stomach is the most common localization. They develop with the same prevalence in men and in women, usually above the age of 50 years. The peak incidence is observed between the fifth and the sixth decade of life. Symptoms are not typical and depend on the localization and the tumor size. About 10-30% of GIST are completely asymptomatic, and are discovered accidentally during the endoscopy or X-rays evaluation as well as during surgical interventions performed for various reasons. The malignant tumors metastasize most commonly to the liver and peritoneum. The metastases are rarely found in the lungs, pleura and bones. The detection of GIST is based on imaging, endoscopy, histological and immunohistochemical examinations. A useful and promising diagnostic procedure is positron emission tomography. The final diagnosis is mostly based on the pathologic findings of the removed tumor. The prognosis of GIST depends on its size, mitotic activity in 50 high power fields and mucosal infiltration. Radical surgery is the best treatment of GIST.
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PMID:Gastrointestinal stromal tumors: epidemiology, clinical picture, diagnosis, prognosis and treatment. 1857 21

Sarcomatoid carcinoma is a rare form of primitive carcinoma of the small bowel; it is considered a variant of adenocarcinoma, histologically characterized by a typical biphasic pattern with epithelial- and mesenchymal-like cells. Twenty-one cases have been described in the literature, presenting as small bowel obstructions (twenty cases) or superior vena cava syndrome (one case). The authors report the case of a 56 year-old man on immunosuppressive therapy for a heart transplant, who underwent surgery after a history of repeated episodes of melena, anemization and bowel obstruction. The operation brought to light an intraluminal occlusive mass in the distal ileum, associated with other intraluminal neoplasms of different sizes throughout the small bowel. No evidence of mesenteric adenopathies or hepatic metastases were found. Histological examination and immunohistochemical stain showed an anaplastic sarcomatoid carcinoma. The tumor cells showed strong positivity for cytokeratin and vimentin, and negativity for CD117 and CD34, as well as for all other characteristic markers of mesenchymal tumors. Early diagnosis is usually very difficult, due to the lack of any stereotyped clinical expression and the difficult to study the small bowel. Small-bowel barium follow-through or video capsule endoscopy can be helpful. In most cases, an emergency surgical operation is performed without a clear preoperative diagnosis. The case report is completed by a review of the literature.
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PMID:Sarcomatoid anaplastic carcinoma of the small bowel in cardiac transplant bearer. 1860 27

Most GIST patients develop clinical resistance to KIT/PDGFRA tyrosine kinase inhibitors (TKI). However, it is unclear whether clinical resistance results from single or multiple molecular mechanisms in each patient. KIT and PDGFRA mutations were evaluated in 53 GIST metastases obtained from 14 patients who underwent surgical debulking after progression on imatinib or sunitinib. To interrogate possible resistance mechanisms across a broad biological spectrum of GISTs, inter- and intra-lesional heterogeneity of molecular drug-resistance mechanisms were evaluated in the following: conventional KIT (CD117)-positive GISTs with KIT mutations in exon 9, 11 or 13; KIT-negative GISTs; GISTs with unusual morphology; and KIT/PDGFRA wild-type GISTs. Genomic KIT and PDGFRA mutations were characterized systematically, using complementary techniques including D-HPLC for KIT exons 9, 11-18 and PDGFRA exons 12, 14, 18, and mutation-specific PCR (V654A, D820G, N822K, Y823D). Primary KIT oncogenic mutations were found in 11/14 patients (79%). Of these, 9/11 (83%), had secondary drug-resistant KIT mutations, including six (67%) with two to five different secondary mutations in separate metastases, and three (34%) with two secondary KIT mutations in the same metastasis. The secondary mutations clustered in the KIT ATP binding pocket and kinase catalytic regions. FISH analyses revealed KIT amplicons in 2/10 metastases lacking secondary KIT mutations. This study demonstrates extensive intra- and inter-lesional heterogeneity of resistance mutations and gene amplification in patients with clinically progressing GIST. KIT kinase resistance mutations were not found in KIT/PDGFRA wild-type GISTs or in KIT-mutant GISTs showing unusual morphology and/or loss of KIT expression by IHC, indicating that resistance mechanisms are fundamentally different in these tumours. Our observations underscore the heterogeneity of clinical TKI resistance, and highlight the therapeutic challenges involved in salvaging patients after clinical progression on TKI monotherapies.
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PMID:Heterogeneity of kinase inhibitor resistance mechanisms in GIST. 1862 23

This report reviews the methods and goals of treatment of gastrointestinal stromal tumor (GIST), the most common mesenchymal tumor of the gastrointestinal tract. GISTs express CD117, which serves as an immunohistochemical diagnostic marker. Surgical excision is the definitive treatment for all primary GISTs greater than 2 cm without evidence of peritoneal seeding or metastasis. Preoperative or intraoperative biopsy is not indicated except when the differential diagnosis includes another type of malignancy. Resection may be performed by traditional open surgery or by laparoscopic or laparoscopy-assisted procedures. Regardless of the approach, oncological precautions must be strictly observed. Tumor disruption is to be avoided at all costs; tumor enucleation leaves a tumor-seeded pseudocapsule behind and is considered insufficient. Because GISTs rarely metastasize through the lymphatics, routine lymphadenectomy is not indicated. The importance of achieving negative microscopic margins is controversial, although patients who undergo incomplete microscopic resection may be at greater risk of locoregional recurrence. Other factors, such as tumor grade and size, may play a more significant role in predicting recurrence. Cases of advanced disease or involvement of adjacent structures should be evaluated on an individual basis by a multidisciplinary team.
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PMID:Surgical management of gastrointestinal stromal tumors: analysis of outcome with respect to surgical margins and technique. 1907 50

Ewing's sarcoma (ES) is a neoplasm of undifferentiated small round cells, which occurs in the bones and deep soft tissues of children and adolescents. We present a rare case of a 44-year-old woman with gastric ES presenting with epigastric pain and weight loss. Ultrasound and computed tomography scans indicated a solid/cystic mass in the pancreatic tail. At laparotomy, the tumor was found attached to the posterior surface of the stomach, completely free from the pancreas, with no lymphadenopathy or local metastases. The polynodal, partly pseudocystic, dark-red soft tumor was excised. Histopathology revealed an anaplastic small-round-cell tumor with strong membranous CD99 immunoexpression. Additionally, there was patchy immunostaining for S-100 protein, vimentin, protein gene product (PGP) 9.5 and neuron-specific enolase, and weak focal CD117 cytoplasmic immunoreactivity. The patient had no adjuvant chemotherapy; her postoperative recovery was uneventful, and she remains symptom-free, and without any sign of recurrence at 20 mo. To the best of our knowledge, this is only the third ever case of gastric ES.
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PMID:Perigastric extraskeletal Ewing's sarcoma: a case report. 1913 77

Basal cell carcinoma (BCC) is a very frequent skin malignancy, with slow evolution and rare metastases. Host tissues react to tumor invasion through complex inflammatory response, comprising varied inflammatory cells. We assessed the expression of mast cells and dendritic cells in 37 archived formalin-fixed paraffin-embedded tissue samples of BCC from the oral and maxillofacial region by means of immunohistochemical (IHC) method, using the SABC (Streptavidin-Biotin Complex) indirect tristadial technique for CD117 and S100 markers. Undetermined cases were eliminated. Mast cells were found in great number at the periphery and in between the tumor islands, the positivity to CD117 being high in three cases, moderate in 11 cases and low in 16 cases. Dendritic cells were also found within the tumor stroma, but they penetrated deep inside the tumor nests. The positivity to S100 was high in one of the 20 conclusive BCC cases, moderate in seven cases and low in nine cases. Three cases were negative to S100. The characteristic location of dendritic cells prove their role as antigen-receptor cells while mast cells might play dual roles in tumor biology.
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PMID:Mast cells and dendritic cells in basal cell carcinoma. 1922 50

Gastrointestinal stromal tumors (GISTs) are a rare and heterogeneous group of spindle cell neoplasms that have also been reported outside of gastrointestinal (GI) tract. These tumors are characterized by somatic mutations of c-KIT (CD117), a proto-oncogene that encodes a receptor tyrosine kinase normally expressed in the interstitial cell of Cajal that control the GI smooth muscle peristalsis, and an exquisite sensitivity to the action of the tyrokinase inhibitor imatinib mesylate (STI571; Gleevec). We report two cases of gastrointestinal stromal tumor identified on prostatic biopsies, where a primary prostatic sarcoma was considered in the differential diagnosis. In one of the cases, there was extensive local disease involving prostate, rectum, and pelvic wall, as well as metastatic disease that quickly lead to the patient's death despite aggressive treatment with imatinib mesylate and conventional chemotherapy. In the other case, the tumor was mostly confined to the rectum but also focally extended into the prostate capsule. The patient underwent resection and was alive without disease 18 months after surgery. In both cases, tissue samples from prostate and the rectum showed a malignant spindle cell neoplasm, which was positive for CD117 (c-kit). Given their unique clinical management, gastrointestinal stromal tumors should be considered in the differential diagnosis of spindle cell lesions on prostatic needle biopsies and CD117 should be added to the immunohistochemical panel in the work-up of such lesions to avoid misinterpreting them as primary prostatic neoplasms.
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PMID:Gastrointestinal stromal tumors presenting as a prostatic mass. 1922 92

The incidence of gastrointestinal stromal tumours (GIST) has increased in recent years. A number of authors have attempted to define the actual nature of these tumours. Immunohistochemistry highlighting the positivity of tyrosine-kinase (CD117/c-Kit) has revealed the difference between gastrointestinal stromal tumours and other mesenchymal tumours and, therefore, the possibility of medical rather than surgical therapy. We retrospectively reviewed 19 patients affected by primary gastric GIST, who underwent surgery in recent years with subsequent follow-up. Gastroscopy and gastrointestinal tract radiography were used not only to obtain the diagnosis but also to establish the size, density, contours, ulceration, regional lymphadenopathy, mesenteric infiltration and the presence of metastases. The aim of this study was to evaluate the roles of endoscopy and radiology in this pathology and the advantages and limitations of each individual technique.
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PMID:[Gastric mesenchymal tumours (GIST)]. 1925 69


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