Metastatic urothelial carcinoma of the bladder is generally considered to be an aggressive disease with many recognised variants, however what is unique about our patient is the metastatic transformation from a urothelial primary malignancy with sarcomatoid variation to a neuroendocrine deposit within the liver. From what we have identified, this pattern of pathological transformation has not been reported for a urothelial malignancy in the literature. We present a 64 year old male who we believe is the first reported case of a primary urothelial malignancy presenting de-novo with metastatic liver deposits showing neuro-endocrine transformation.

Patients with rare diseases are often disadvantaged, particularly those with rare liver diseases. Reasons for disadvantage include delayed or overlooked diagnosis, lack of local expertise and high-quality care, poor scientific understanding of the disease process and limited therapeutic options. In adult liver disease this can be compounded by prejudices towards patients with liver disease in general, because of a perception (incorrect for all rare liver diseases) that liver disease is lifestyle related and thus “self-inflicted”. In paediatric rare liver diseases, such as biliary atresia, optimising outcomes requires a particularly timely diagnosis. Irrespective of patient age, the scientific and medical community must rise to the challenge of advancing our understanding of rare liver disease, searching for more effective and specific therapies, and providing the infrastructure to provide the best care for all patients, infants, children, young and older adults. The European Reference Network for Rare Liver Diseases is an important step in this direction.

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With Regards
Sofia
Journal Co-ordinator
Journal of Rare Disorders: Diagnosis & Therapy