Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome

• Published in: Pediatrics (Evanston) 2010-07, Vol.126 (1), p.e235-e238
• Main Authors: Nobili, Valerio, Jenkner, Alessandro, Francalanci, Paola, Castellano, Aurora, Holme, Elisabeth, Callea, Francesco, Dionisi-Vici, Carlo
• Format: Article
• Language: English
• Subjects: Adjuvant; Adolescent; Annan klinisk medicin; Biopsy; Biopsy, Needle; Cancer; Carcinoma; Carcinoma, Hepatocellular - diagnosis; Carcinoma, Hepatocellular - therapy; Cell and Molecular Biology; Cell- och molekylärbiologi; Chemotherapy; Chemotherapy, Adjuvant; Children & youth; complications; Cyclohexanones; Cyclohexanones - therapeutic use; diagnosis; Diagnosis, Differential; Differential; drug therapy; etiology; Female; Follow-Up Studies; Hepatectomy; Hepatectomy - methods; Hepatoblastoma; Hepatoblastoma - diagnosis; Hepatoblastoma - secondary; Hepatoblastoma - therapy; Hepatocellular; Humans; Immunohistochemistry; Liver diseases; Liver Neoplasms; Liver Neoplasms - diagnosis; Liver Neoplasms - etiology; Liver Neoplasms - therapy; Medical diagnosis; Medical Genetics and Genomics; Medical treatment; Medicinsk genetik och genomik; methods; Needle; Nitrobenzoates; Nitrobenzoates - therapeutic use; Other Clinical Medicine; Pediatrics; Risk Assessment; secondary; therapeutic use; therapy; Transplants & implants; Treatment Outcome; Tyrosinemias; Tyrosinemias - complications; Tyrosinemias - diagnosis; Tyrosinemias - drug therapy
• ISSN: 0031-4005; 1098-4275; 1098-4275
• DOI: 10.1542/peds.2009-1639

The clinical course of tyrosinemia type 1 is characterized by acute liver failure in infancy or chronic liver dysfunction and renal Fanconi syndrome in late-presenting cases. Dietary treatment may improve liver function but does not prevent the development of hepatocellular carcinoma (HCC) in late childhood. A new treatment strategy that uses 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), which prevents the production of toxic/carcinogenic metabolites, has dramatically changed the outcome of the disease by reducing the occurrence of liver cancer, especially in patients who start this treatment before the age of 2 years. We report here the case of a patient with a diagnosis of tyrosinemia type 1 at 5 months of age who was treated with NTBC and dietary restriction and in whom a liver neoplasm with lung metastases, histologically determined to be HCC, was found at the age of 15 months. A conservative approach that consisted of chemotherapy and partial hepatectomy resulted in a 12-year disease-free period. The excellent postchemotherapy course, in sharp contrast to the expected course of HCC, led to histologic reevaluation with reclassification of the neoplasm as hepatoblastoma. A diagnosis of hepatoblastoma would no longer be a mandate for a liver transplant for patients with tyrosinemia type 1 undergoing NTBC treatment. We encourage clinicians to perform more accurate evaluation of liver histology, because a neoplastic mass in a child with tyrosinemia type 1 is not the same as HCC.