Metastatic carcinomatous cirrhosis and hepatic hemosiderosis in a patient heterozygous for the H63D genotype

• Published in: Archives of pathology & laboratory medicine (1976) Vol. 125; no. 8; pp. 1084 - 1087
• Main Authors: Mitchell, M L, Filippone, M D, Wozniak, T F
• Format: Journal Article
• Language: English
• Published: United States College of American Pathologists 01.08.2001
• Subjects: Adult; Breast Neoplasms - genetics; Breast Neoplasms - surgery; Carcinogenicity testing; Carcinoma, Ductal, Breast - genetics; Carcinoma, Ductal, Breast - secondary; Carcinoma, Ductal, Breast - surgery; Diagnosis; Evaluation; Fatal Outcome; Female; Hemochromatosis Protein; Hemosiderosis - etiology; Hemosiderosis - genetics; Hemosiderosis - therapy; Hepatic encephalopathy; Heterozygote; Histocompatibility Antigens Class I - genetics; HLA Antigens - genetics; Humans; Iron - analysis; Liver - chemistry; Liver - pathology; Liver cirrhosis; Liver Cirrhosis - etiology; Liver Cirrhosis - genetics; Liver Cirrhosis - therapy; Liver Neoplasms - complications; Liver Neoplasms - pathology; Liver Neoplasms - secondary; Membrane Proteins; Mutation; Tomography, X-Ray Computed; United States
• ISSN: 0003-9985; 1543-2165; 1543-2165
• DOI: 10.5858/2001-125-1084-mccahh

A 38-year-old woman had a mastectomy for infiltrating ductal carcinoma of the breast 3 years before her last admission and had received chemotherapy for known liver metastases. She developed the rapid onset of liver failure with portal hypertension and died in a hospice. Autopsy revealed macronodular cirrhosis of the liver secondary to metastatic carcinoma of the breast with associated florid fibrosis. This rare lesion, previously called metastatic carcinomatous cirrhosis, was also found, in this case, to have marked hepatic hemosiderosis, and analysis of the patient's DNA showed heterozygosity for the H63D genotype. The possibility of cirrhosis-associated hemosiderosis secondary to an iron metabolism abnormality associated with the H63D mutation of the HFE gene is proposed. Computed tomographic scans showed the development of cirrhosis during the 3-month period before the patient's last admission and suggested the possibility of a postnecrotic type origin.