Liver tumours in patients with Fanconi anaemia: a report of three cases.
Fanconi anaemia is an autosomal recessive disease, causing secondary aplastic anaemia and congenital abnormalities, associated with an increased risk of tumours. Liver cell adenoma and hepatocellular carcinoma have rarely been described. Clinical, radiological and histopathological features in three patients with Fanconi anaemia and liver tumours were analyzed. Only one patient had received androgens and none had chronic viral hepatitis. All had elevated serum ferritin with significant parenchymal iron overload. Alpha-fetoprotein levels were normal in all cases. Patient 1 had moderately differentiated hepatocellular carcinoma with venous invasion and satellite nodules. The patient underwent two consecutive resections. Patient 2 had hepatic nodules diagnosed at routine examination with radiological features of adenomas. The patient underwent resection, which showed liver cell adenoma with foci of carcinoma. Patient 3 had three nodules, with radiological and histological diagnosis of adenoma. In patients with Fanconi anaemia, androgen therapy and iron overload may contribute to the development of liver cell adenoma and hepatocellular carcinoma. Hepatocellular carcinoma may occur as a transformation of liver cell adenoma. With prolongation of survival, continued development of liver tumours can be expected. Routine detection should therefore be considered in these patients as curative resection can be performed.
Ozenne
Violaine
V
Department of Hepatology, Hôpital Beaujon, APHP, Clichy, France. violaine.ozenne@bjn.aphp.fr
Paradis
Valérie
V
Vullierme
Marie-Pierre
MP
Vilgrain
Valérie
V
Leblanc
Thierry
T
Belghiti
Jacques
J
Imbert
Audrey
A
Valla
Dominique C
DC
Degos
Françoise
F
D018248:Adenoma, Liver Cell / Q000000981:diagnostic imaging / Q000209:etiology*; D000328:Adult; D006528:Carcinoma, Hepatocellular / Q000000981:diagnostic imaging / Q000209:etiology*; D005199:Fanconi Anemia / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology*; D008297:Male; D014057:Tomography, X-Ray Computed; D014062:Tongue Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology