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Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome.

Artikel i vetenskaplig tidskrift
Författare Valerio Nobili
Alessandro Jenkner
Paola Francalanci
Aurora Castellano
Elisabeth Holme
Francesco Callea
Carlo Dionisi-Vici
Publicerad i Pediatrics
Volym 126
Nummer/häfte 1
Sidor e235-8
ISSN 1098-4275
Publiceringsår 2010
Publicerad vid Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Sidor e235-8
Språk en
Länkar dx.doi.org/10.1542/peds.2009-1639
Ämnesord Adolescent, Biopsy, Needle, Carcinoma, Hepatocellular, diagnosis, therapy, Chemotherapy, Adjuvant, Cyclohexanones, therapeutic use, Diagnosis, Differential, Female, Follow-Up Studies, Hepatectomy, methods, Hepatoblastoma, diagnosis, secondary, therapy, Humans, Immunohistochemistry, Liver Neoplasms, diagnosis, etiology, therapy, Nitrobenzoates, therapeutic use, Risk Assessment, Treatment Outcome, Tyrosinemias, complications, diagnosis, drug therapy
Ämneskategorier Molekylär medicin (genetik och patologi), Tumörbiologi, Klinisk kemi

Sammanfattning

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.

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