{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T19:51:25Z","timestamp":1778874685853,"version":"3.51.4"},"reference-count":16,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,7,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1542\/peds.2009-1639","type":"journal-article","created":{"date-parts":[[2010,6,15]],"date-time":"2010-06-15T03:13:31Z","timestamp":1276571611000},"page":"e235-e238","source":"Crossref","is-referenced-by-count":27,"title":["Tyrosinemia Type 1: Metastatic Hepatoblastoma With a Favorable Outcome"],"prefix":"10.1542","volume":"126","author":[{"given":"Valerio","family":"Nobili","sequence":"first","affiliation":[{"name":"Divisions of Hepatology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Jenkner","sequence":"additional","affiliation":[{"name":"Oncology,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Francalanci","sequence":"additional","affiliation":[{"name":"Pathology, 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