RESUMEN
Hereditary haemochromatosis (HH), which is mainly associated with a C282Y polymorphism in HFE, is common among Caucasians of north European descent, but is very rare among Asians. Herein, we report a 43-year-old Japanese man who was diagnosed as having HH. A laboratory examination revealed an elevated serum iron level (280 µg/dl), hyperferritinemia (1698 ng/ml) and a low serum level of hepcidin-25 (4.0 ng/ml). Abdominal magnetic resonance imaging revealed findings suggestive of iron accumulation in the liver and pancreas. HFE gene sequencing in the patient revealed a novel homozygous TAC nucleotide deletion (c. 691_693del) responsible for the loss of a tyrosine at position 231 (p. Y231del) of the HFE protein. This homozygous Y231del mutation was recently found in the Huh-7 hepatoma cell line and was shown to prevent the translocation of HFE to the cell surface. This clinical case provides in vivo evidence suggesting that Huh-7 is undoubtedly a human haemochromatotic cell line and, as such, is a valuable tool for investigating the pathogenesis of HFE-related HH in humans.
Asunto(s)
Línea Celular Tumoral , Hemocromatosis/genética , Antígenos de Histocompatibilidad Clase I/genética , Proteínas de la Membrana/genética , Eliminación de Secuencia/genética , Adulto , Péptidos Catiónicos Antimicrobianos/sangre , Secuencia de Bases , Cromatografía Liquida , Hemocromatosis/patología , Proteína de la Hemocromatosis , Hepcidinas , Humanos , Japón , Imagen por Resonancia Magnética , Masculino , Datos de Secuencia Molecular , Flebotomía , Análisis de Secuencia de ADN , Espectrometría de Masas en TándemRESUMEN
Pancreatic acinar cell carcinoma is rare, and its incidence is less than 1% of all the malignant pancreatic tumors. Little is reported on effectiveness of chemotherapy. We report a 64-year-old male patient with pancreatic acinar cell carcinoma and a giant metastatic liver tumor, which responded to combination chemotherapy with gemcitabine(GEM)and peroral S-1 administration. The patient had upper abdominal pain and hypervascular tumors in liver(15 cm in diameter)and pancreas tail (3 cm in diameter), which were detected by an enhanced abdominal computed tomography(CT)scan, and was admitted for further examination. Abdominal angiography, FDG-positron emission tomography(PET), and liver tumor biopsy led to a diagnosis of pancreatic acinar cell carcinoma in the pancreas tail with liver metastasis. The patient was then treated with combination chemotherapy, which consisted of intravenous infusion of GEM and peroral administration of S-1, and the metastatic liver tumor was markedly reduced(partial response in RECIST). Although the prognosis of patients with unresectable pancreatic acinar cell cancers is generally unfavorable, it is suggested that the GEM/S- 1 combination chemotherapy is effective for these patients' treatment.