Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review summarizes the clinical and pathological findings of 52 cases of hepatic angiomyolipoma to discern and establish the most pertinent clinical and pathologic characteristics of the tumor. The disease was symptomatic in 60% of the patients. Abdominal pain or distress was the most common symptom, appearing in 37% of the patients, followed by malaise and upper abdominal mass or hepatomegaly. Of the 52 patients, only three (5.8%) showed associated tuberous sclerosis. Antemortem diagnosis of the tumor has been made with increasing frequency with the recent advent of computed tomography (CT) and ultrasound (US). The tumor was usually visualized as a hyperechoic mass by US imaging and as a low density mass less than -20 Housefield units by CT, and was hypervascular on angiography. The tumor was usually yellow to light tan, depending on the amount of fat tissue. Histologically, the tumor was characterized by an admixture of mature fat cells, blood vessels, and smooth muscle cells, with occasional foci of extramedullary hematopoiesis. The amount of smooth muscle component varied and often exhibited hypercellularity, pleomorphism with occasional bizarre giant cells, and moderate motitic activity. These features are considered conducive to an erroneous diagnosis of malignant tumor. However, since no malignant counterpart has been reported, it can easily be accurately differentiated histologically, if one is aware of the entity and can identify the three components of the tumor; blood vessels, smooth muscle cells, and fat. With regard to the histogenesis of angiomyolipoma, primitive mesenchymal cells around blood vessels may be the precursor cells.
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PMID:Angiomyolipoma of the liver: a collective review. 819 5

We describe a patient with symptomatic giant hepatic hemangioma treated with hepatectomy. A 53-year-old woman presented with upper abdominal distension and appetite loss. The medical history included multiple hepatic hemangiomas that had been detected 2 years earlier but were left untreated. Initial laboratory tests revealed pancytopenia and mild coagulopathy. Computed tomography and magnetic resonance imaging demonstrated a giant hemangioma, 27 cm in diameter, in the enlarged right lobe of the liver. The inferior vena cava was compressed by tumor without thrombus in the infrahepatic vena cava. The portal venous phase of supramesenteric arteriography revealed compression of the portal vein. There were several hemangiomas in the left lobe. Gastric outlet obstruction due to giant hepatic hemangioma in the right lobe was diagnosed. Laparotomy was performed, and a markedly enlarged liver was detected. Right hepatectomy was performed with an anterior approach. The liver-hanging maneuver could not be performed because of tumor compression of the inferior vena cava. Right hepatectomy was performed with intermittent clamping (Pringle maneuver). Hepatic hemangiomas of the left lobe were not resected because the remnant liver would be reduced. The weight of the resected specimen was 2,100 g. Pathologic examination of the surgical specimen confirmed the presence of benign hepatic hemangiomas. The postoperative course was uneventful, and the patient's appetite improved. The patient was discharged 8 days after the operation. Abdominal distension decreased and laboratory data improved after the operation. Computed tomography revealed hypertrophy of the left lobe of the liver after the operation.
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PMID:A symptomatic giant hepatic hemangioma treated with hepatectomy. 2138 46

Tuberous sclerosis is characterized by typical skin and clinical manifestations with predilection to neoplasia. We describe the case of a 42-year old female who presented with a mass and pain in right lumbar region with constitutional symptoms and generalized body aches since last one year. She had adenoma sebaceum, subungual fibromas and hepatomegaly. CT chest, abdomen and MRI revealed mass in the right renal fossa with wide spread extensions in the abdomen, left renal angiomyolipomas (AMLs) and intracerebral lesions. Her clinical and radiological findings were suggestive of tuberous sclerosis with multiple mass lesions. She had past history of being operated for right renal AML twelve years ago. In current admission she developed refractory seizures and required mechanical ventilation. Biopsies from the renal fossa mass and liver revealed epithelioid variant angiomyolipomas. It is an uncommon variant which can present with features of malignancy or local recurrence or distant metastasis occasionally. Our case emphasizes the importance of being acquainted with skin lesions which can help in early diagnosis and management of tuberous sclerosis.
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PMID:Tuberous Sclerosis with Disseminated Malignancy. 2780 37

Liver-specific deletion of autophagy-related genes in mice leads to hepatomegaly, liver injury and spontaneous liver tumorigenesis. Accumulating evidence indicates that p62/SQSTM1-mediated NFE2L2/Nrf2/(nuclear factor, erythroid 2 like 2) activation plays a critical role in promoting liver injury and tumorigenesis in autophagy-defective livers. However, the mechanisms of how persistent NFE2L2 activation induces liver injury and tumorigenesis are unknown. In a recent study, it was found that deletion of Mtor (mechanistic target of rapamycin kinase) or Rptor/Raptor attenuates hepatomegaly and liver injury in young liver-specific atg5 knockout mice but accelerates liver tumorigenesis in old mice likely due to feedback AKT activation. Overall, these findings suggest that both hyper- and hypo-activation of MTOR are detrimental to the liver resulting in the development of liver tumors. A balanced MTOR activity is critical to maintain the normal physiological functions of the liver, and caution should be exercised when treating hepatocellular carcinomas using MTOR inhibitors. Abbreviations: Atg5: autophgy related 5; DKO: double-knockout; HCC: hepatocellular carcinoma; INS: insulin; INSR: insulin receptor; KEAP1: kelch-like ECH-associated protein 1; KO: knockout; MTOR: mechanistic target of rapamycin kinase; NFE2L2: nuclear factor, erythroid 2 like 2; raptor: regulatory associated protein of MTOR, complex 1; SQSTM1: sequestosome 1: tsc1: TSC complex subunit 1.
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PMID:The double-edged sword of MTOR in autophagy deficiency induced-liver injury and tumorigenesis. 3121 56