Combined Hepatocellular-Cholangiocarcinoma With Ductal Plate Malformation Pattern: A Case Report With Molecular Analysis

Abstract

Combined hepatocellular-cholangiocarcinoma with a ductal plate malformation pattern is an extremely rare entity with unelucidated pathogenesis. We present the case of a 60-year-old male patient who underwent a sectionectomy for pre-operative diagnosis of hepatocellular carcinoma based on clinical and image findings. Gross examination of the specimen revealed a well-defined tumor with cystic change measuring 6.7 × 6.2 cm. Microscopically, the lesion had classical features of hepatocellular carcinoma and intrahepatic cholangiocarcinoma exhibited neoplastic glands with irregular-sized dilated lumens, resembling a ductal plate malformation. Postoperative diagnosis was combined hepatocellular-cholangiocarcinoma with ductal plate malformation pattern. Next-generation sequencing revealed genomic alteration in 15 genes: CDKN2A, CHD4, CYP2D6, ERBB3, KIR3DL1, KRAS, MDM2, PIM1, STAT6, TPMT amplification, FANCD2, FAT1, FLT4, RASA1, and TP53 point mutation. This is the first case report of molecular alteration in combined hepatocellular-cholangiocarcinoma with ductal plate malformation pattern.

Mixed Plate Ductal Intrahepatic Cholangiocarcinoma Mimicking Hepatocellular Carcinoma

“…They can be further distinguished by their tissue origin and geographical location. Combined cholangiocarcinoma (CCA) and hepatocellular carcinoma (HCC) with ductal plate malformation is a rare entity with unclear etiopathogenesis [ 5 ], which is a subtype of intrahepatic CCA. Distinction between these subtypes is necessary for appropriate management and prognostic evaluation, often requiring a biopsy as imaging alone can be insufficient for diagnosis.…”