Durable Response to Pazopanib in a Patient with Fumarate Hydratase-Mutant Tubulocystic Renal Cell Carcinoma.

Tubulocystic carcinoma of the kidney (TC-RCC) is a rare renal tumor and has been recently included as a distinct entity in WHO classification of renal neoplasms. We report the case of a patient with metastatic tubulocystic RCC whose disease progressed through standard of care treatment for nonclear RCC. However, genetic analysis revealed a germline pathogenic variant of fumarate hydratase (FH) gene, and the patient had a sustained and durable response to pazopanib.

Cystic biliary atresia in a neonate with antenatally detected abdominal cyst.

Cystic biliary atresia (BA) is a rare but an important type of BA. An antenatally detected cystic lesion at the porta hepatis raises the suspicion of cystic BA. It is very important to differentiate this from choledochal cyst in infants with cholestasis and cystic lesions.