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)

Epithelioid hemangioendothelioma (HEE) is an unusual malignant neoplasm of vasculo-endothelial origin, arising in soft tissues, lung and liver. One case of hepatic HEE is reported in a 32 year-old man wit an isolated multinodular hepatomegaly. The diagnosis was made by the histologic examination of biopsy specimens. At the time of diagnosis, there was evidence of pulmonary metastasis. However, an orthotopic liver transplantation was performed. The tumor cells were immunoreactive with factor VIII-related antigen, BNH9 and vimentin. There was no expression of cytokeratin and epithelial membrane antigen. The patient is alive and well 24 months after. The thoracic X-ray are unchanged. This case is compared with the 84 others cases of the literature. Fourteen experienced a favorable outcome after transplantation. Extra-hepatic dissemination doesn't contra-indicate the graft. But hilar vascular involvement may be correlated with worse prognosis.
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PMID:[Hepatic epithelioid hemangioendothelioma. A case with liver transplantation. Review of the literature]. 848 46

Ewing sarcoma/primitive neuroectodermal tumor is a rare tumor of soft tissues of thoraco-pulmonary regions, pelvis and lower extremities. Involvement of visceral organs by primitive neuroectodermal tumor is even rarer, with the kidney being the most commonly involved organ. Involvement of the liver has been reported in the form of metastasis from other primary sources presenting as liver abscess. We report a 20-year-old lady presenting with massive hepatomegaly, with computed tomography scan evidence of diffuse hepatomegaly and a normal porta and intrahepatic biliary radicles. She subsequently underwent ultrasonography-guided true-cut needle biopsy of the liver. Histopathology of the liver revealed nests of small round blue tumor cells in the background of hepatocytes infiltrating the liver, which expressed Mic-2 and Fli-1, and were negative for cytokeratin, desmin, hepatocyte-specific antigen (OCHIE5), synaptophysin, chromogranin A and CD-20. Immunohistochemistry revealed CD-99-positive. Extensive search regarding any possible different site of involvement by the tumor was negative. The patient responded to a combination therapy of vincristine, adriamycin and cyclophosphamide alternating with ifosfamide and etoposide 3 weekly over 43 weeks and has been doing well even after 1 year of diagnosis. The clinical presentation, the macroscopic aspect, together with the histological pattern, the cytological characteristic and the cellular immunophenotype lead to the diagnosis of primary primitive neuroectodermal tumor of the liver which responded well to combination chemotherapy.
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PMID:Primitive neuroectodermal tumor of the liver: a case report. 1999 88

29-year-old Hispanic woman presented to the clinic with complaints of abdominal pain, nausea, fatigue, and constipation. Laboratory tests indicated the presence of iron deficiency anemia and transaminitis. Imaging evaluation revealed marked hepatomegaly with multiple hepatic metastases and pelvic lymphadenopathy. Biopsy of the hepatic lesions showed adenocarcinoma positive for pan-cytokeratin, CMA5.2, villin, and CDX2. She was positive for tumor markers CA 19-9, CA-125, and CEA. Upon further evaluation, she was found to have colorectal cancer positive for KRAS and BRAF mutations. Unfortunately, her disease progressed rapidly and she expired within 3 months from the time of her first diagnosis. KRAS and BRAF mutations are rare enough to be considered virtually mutually exclusive but coexistent mutations appear to be a distinct molecular and clinical subset with aggressive course of illness, which is in dire need of new treatment strategies. Panitumumab and Cetuximab are approved for patients with wild type KRAS CRC. Vemurafenib is a potent inhibitor of the kinase domain in mutant BRAF and its use in BRAF mutated colon cancer remains to be well established. Our report highlights the need to obtain tissue samples from these patients for analysis and to evaluate the benefit of Vemurafenib in colorectal cancers.
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PMID:Are All Mutations the Same? A Rare Case Report of Coexisting Mutually Exclusive KRAS and BRAF Mutations in a Patient with Metastatic Colon Adenocarcinoma. 2881 46