Hepatocellular Adenoma With Hepatocyte Nuclear Factor-1 Alpha (HNF-1α) Mutation: A Case Report.

ABSTRACT

Hepatocellular adenoma (HCA) is an uncommon benign liver tumor that exhibits a variety of subtypes, each distinguished by unique molecular alterations. This case report describes a 43-year-old man with a history of alcoholism who presented with stomach pain. Imaging revealed multiple hepatic lesions and sigmoid colon inflammation, while laboratory tests showed mild neutrophilic leukocytosis and elevated liver enzymes. Tumor markers were normal. A liver biopsy confirmed HCA with hepatocyte nuclear factor-1 alpha (HNF-1α) inactivation, characterized by negative immunostaining for glutamine synthetase, nuclear beta-catenin, serum amyloid A, C-reactive protein, and liver fatty acid-binding protein (L-FABP). This case is unique due to the patient's gender and the absence of typical risk factors such as abnormal hormone levels. HCAs in males, particularly with HNF-1α inactivation, are rare and pose diagnostic challenges. Comprehensive diagnostic approaches, including biopsy and immunohistochemical analysis, are crucial for accurate subtype identification. The potential for malignant transformation, particularly in male patients, underscores the need for vigilant monitoring and appropriate management. This case highlights the importance of considering HCA in differential diagnoses regardless of gender and typical risk factors, contributing valuable insights into the diverse presentations and risks associated with HCA, and emphasizing the need for awareness and further research to improve diagnosis and management of this rare condition.