Resumo

MARQUES, Margarida et al. Cholangiolocellular carcinoma in patient with hereditary hemochromatosis. J Port Gastrenterol. [online]. 2013, vol.20, n.1, pp.41-44. ISSN 0872-8178.  https://doi.org/10.1016/j.jpg.2012.04.028.

Hereditary Hemochromatosis (HH) eventually leads to cirrhosis, which is a major risk factor to hepatocellular carcinoma (HCC), and it is also associated to colangiocarcinoma (CC), which is ten times more frequent in this setting than in general population. We describe a patient with cirrhosis due to HH and with a 3 cm hypoecoic lesion in his liver. _- fetoprotein measurement was normal. A liver biopsy was performed and pathology revealed a malignant epitelial neoplasia, with a solid and tubulo-glandular pattern, extensive necrotic areas with significant desmoplasia, and immunocytochemical analysis was positive ‘for’ CK19 and CK17, and negative ‘for’ _- fetoprotein, CD10 and CD34. At this time, were considered the following diagnostic hypothesis: CC, hepato-colangiocarcinoma and sclerotic HCC. This case was referred to an international centre who diagnosed a malignant neoplasia constituted by tumour cells arranged in nests and cords, with a eosinofilic cytoplasm, lightly granulate. Immunocytochemical analysis revealed positivity ‘for’ CK7 and CK19 and negativity ‘for’ Hepar-1, CD10 and glypican 3, suggesting the diagnosis of cholangiolocarcinoma. Cholangiolocarcinoma (CLC) is a very rare primary malignant tumour of the liver, which is responsible for less than 1% of hepatic malignancy. It is characterized by small cells, with an elevated ratio nucleus\cytoplasm, and ovals, hyperchromatic nucleus. Cells are disposed in cords (Hering canals) in a fibrous stroma. Areas with HCC and CC features are frequently observed in the periphery of the neoplasia. This tumour is almost always positive ‘for’ CK19 (as in this case) and ‘for’ KIT, NCAM and EpCAM (which were not tested in this case). This neoplasia has been considered as a sub-type of CC, but according with current classification of WHO (4th edition, 2010), it must be considered as a variant of hepato-cholangiocarcinoma, with stem-cells features, sub-type cholangiocarcinoma.

Palavras-chave : Hereditary Hemochromatosis; Cirrhosis; Cholangiolocarcinoma.

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