Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome

Pediatrics. 2010 Jul;126(1):e235-8. doi: 10.1542/peds.2009-1639. Epub 2010 Jun 14.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy, Needle
  • Carcinoma, Hepatocellular / diagnosis*
  • Carcinoma, Hepatocellular / therapy
  • Chemotherapy, Adjuvant
  • Cyclohexanones / therapeutic use*
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Hepatectomy / methods
  • Hepatoblastoma / diagnosis
  • Hepatoblastoma / secondary*
  • Hepatoblastoma / therapy
  • Humans
  • Immunohistochemistry
  • Liver Neoplasms / diagnosis*
  • Liver Neoplasms / etiology
  • Liver Neoplasms / therapy
  • Nitrobenzoates / therapeutic use*
  • Risk Assessment
  • Treatment Outcome
  • Tyrosinemias / complications
  • Tyrosinemias / diagnosis
  • Tyrosinemias / drug therapy*

Substances

  • Cyclohexanones
  • Nitrobenzoates
  • nitisinone