Genetic Characterization of Hepatoid Tumors from Different Organs: Context Matters

Claudio Luchini, Rita Lawlor, Concetta Sciammarella, Andrea Mafficini, Gaetano Paolino, Paola Mattiolo, Lodewijk Brosens, N. Volkan Adsay, Liang Cheng, Aldo Scarpa

Research output: Contribution to journalMeeting AbstractAcademic

Abstract

Background: Hepatoid tumors (HT) are a rare group of cancers resembling morphologically hepatocellular carcinoma, which arise in different organs other than liver. A comprehensive molecular profile of this group of neoplasms is still lacking.

Design: A genetic characterization of 20 HT from different organs was performed using three different multigene next-generation sequencing panels.

Results: TP53 was the only mutated gene occurring in HT of different sites (8/20 cases), while the vast majority of alterations were clustered according to the tissue of origin. The most relevant findings were: i) colorectal HT: microsatellite instability, high tumor mutation burden, mutations in ARID1A/B and KMT2D genes, and NCOA4-RET gene fusion (2/3 cases); ii) gastric HT: TP53 mutations (2/4); iii) pancreatico-biliary: loss of CDKN2A and loss of chromosome 18 (3/5); iv) genital HT: gain of chromosome 12 (3/6); v) lung HT: STK11 somatic mutations (2/2).

Conclusions: The analysis of a heterogeneous cohort of HT from different organs did not reveal a common molecular hallmark that could explain the peculiar hepatoid morphology. Most genetic alterations were clearly clustered by site, highlighting that context matters: the tissue of origin emerged as the most important factor in influencing HT molecular landscape.
Original languageEnglish
Pages (from-to)447-447
JournalLaboratory Investigation
Volume101
Issue numberSUPPL 1
DOIs
Publication statusPublished - Mar 2021

Fingerprint

Dive into the research topics of 'Genetic Characterization of Hepatoid Tumors from Different Organs: Context Matters'. Together they form a unique fingerprint.

Cite this