Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hepatocellular carcinoma (HCC) may uncommonly present with distant metastasis in the absence of a documented neoplasm in the liver. The authors herein describe the case of a 60-year-old man with cirrhosis who developed unilateral enlargement of the breast and a subareolar mass. This problem was clinically thought to represent gynecomastia, but a mammary fine-needle aspiration biopsy demonstrated a malignant epithelial neoplasm composed of large granular amphophilic cells. Bile pigment was visualized in the tumor on aspirate smears and cell block preparations; immunostains showed reactivity for cytokeratin and alpha-fetoprotein, but there was no positivity for epithelial membrane antigen, gross cystic disease fluid protein-15, vimentin, estrogen receptors, progesterone receptors, or S100 protein. These results indicated a diagnosis of metastatic HCC, which was subsequently confirmed by computed tomography of the abdomen.
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PMID:Metastatic hepatocellular carcinoma of the breast, simulating gynecomastia: diagnosis by fine-needle aspiration biopsy. 133 27

Hepatocellular carcinoma (HCC) is a malignant epithelial tumor that accounts for over 80% of primary liver tumors. It affects males more than females, and is responsible for over 1 million yearly deaths worldwide. HCC tends to be relentless in nature and of rapid evolution. Most cases of HCC are associated with cirrhosis, usually caused by chronic viral hepatitis or alcohol ingestion. In cases of established cirrhosis, HCC develops with an annual incidence of 3%-10%. Hepatocellular carcinoma may present in a generalized way with overall clinical deterioration and malaise, as a palpable liver mass, or as an asymptomatic lesion that is discovered incidentally. Alpha-fetoprotein (AFP) measurements allow for the differentiation of HCC in cirrhotics, and can act as predictive markers. Patients with cirrhosis and small tumors (up to 3 cm, or 5 cm if solitary), no more than three nodules, and no portal vein involvement were found to benefit more from orthotopic liver transplantation (OLTx) than from resection. Tumors under 3 cm in size were unlikely to recur, while those over 5 cm posed the greatest risk. An incidental HCC in a transplant patient should be treated as seriously and aggressively as if the transplant had been undertaken for HCC.
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PMID:Hepatocellular cancer in liver transplantation. 1170 52

The clinical impact of circulating tumor cell (CTC) detection is controversial, mainly due to drawbacks of molecular approaches applied to this field. We sought to determine if the specific identification and counting of circulating tumor cells by cytomorphologic analysis has clinical usefulness. Peripheral blood (6 mL), treated using isolation by size of epithelial tumor cells, was obtained from 44 patients with primary liver cancer (PLC) and without metastases, 30 patients with chronic active hepatitis, 39 with liver cirrhosis, and 38 healthy individuals, and followed up for a mean period of 1 year. We searched for beta-catenin mutations in 60 single microdissected CTCs. One patient with liver cancer developed extrahepatic metastases during follow-up. CTCs and microemboli were found in 23 of the 44 patients with liver cancer and in none of the patients with chronic active hepatitis, patients with cirrhosis, or healthy subjects. Their presence was significantly associated with tumor diffusion (P =.0001) and portal tumor thrombosis (P =.006). Both the presence (P =.01) and number (P =.02) of CTCs and microemboli were significantly associated with a shorter survival. Beta-catenin mutations were found in 3 of 60 CTCs, arguing against their impact on the initial step of tumor cell invasion. In conclusion, the highly sensitive and specific detection of CTCs and microemboli may have clinical implications for cancer staging and outcome prediction. We also show the feasibility of molecular studies of individual circulating tumor cells, aimed at identifying gene mutations involved in tumor invasion.
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PMID:Impact of cytomorphological detection of circulating tumor cells in patients with liver cancer. 1499 98

Primary sclerosing cholangitis (PSC) is a cholestatic liver disease of unknown etiology, characterized by chronic inflammation of the biliary tree with subsequent fibrosis and cirrhosis of the liver. Patients with PSC are at increased risk for the development of cholangiocarcinoma (CCA), a highly malignant epithelial tumor arising from the intrahepatic and extrahepatic bile ducts. Currently, orthotopic liver transplantation is the only curative treatment. The lack of efficient diagnostic methods for early detection and the limited therapeutic options for CCA are major problems and are associated with poor survival. The pathogenesis of PSC-associated CCA is complex and poorly understood. It seems that pro-inflammatory cytokines play an important role in genetic and epigenetic changes that contribute to the carcinogenic process. The mapping of genetic alterations may elucidate molecular targets that may be applied as biomarkers to facilitate early diagnosis of malignant degeneration to improve patient outcome. In the last decade, the introduction of several novel molecular techniques available for genome-wide screening has advanced our knowledge on many of the genetic abnormalities that are prevalent in CCA and PSC-associated CCA. This review summarizes genetic and epigenetic abnormalities, which have important potential for clinical application.
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PMID:Genetic and epigenetic abnormalities in primary sclerosing cholangitis-associated cholangiocarcinoma. 2361 29

We here report the case of a 64-year old woman followed up for cirrhosis due to hepatitis C virus who didn't respond favorably to antiviral treatment. During her last follow-up visit, she reported the occurrence of painful anterior chest hump. Physical examination showed hard immobile mass at the level of the manubriosternal joint. The patient underwent sternoclavicular CT scan, which objectified expansive osteolytic lesion centered upon the sternal manubrium invading the soft tissues (A, B). The biopsy revealed malignant papillary epithelial tumor expressing pancytokeratin and CK7. Patient's profile suggested the presence of a metastasis from cholangiocarcinoma or osteophilic tumor. Gynecological examination, associated with mammogram and breast ultrasound, excluded a gynecological origin. The diagnosis of thyroid tumor was excluded on ultrasound. Chest CT scan showed multiple secondary pulmonary nodules. Abdominal angioscanner revealed the presence of a tissutal hepatic mass measuring 6 cm invading the portal bifurcation with portal vein thrombosis, suggesting hepatocellular carcinoma (HCC) (C). Given the discrepancy between anatomopathological data and morphological data, immunohistochemical study of the anti-Hep-Par-1 was performed, showing antibody expression on tumor cells. The diagnosis of manubriosternal metastasis from poorly differentiated hepatocellular carcinoma was retained. The patient was recommended to undergo chemotherapy. Bone metastases revealing HCC are exceptional. However, HCC should be suspected in patients with lytic bone lesion, especially in patients with chronic liver disease. Given its poor prognosis, treatment is based on palliative therapy with the aim of improving mainly the quality of life of patients.
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PMID:[Unusual cause of sternal swelling]. 2954 Dec 94