Medical liver biopsy: Toward a personalized approach

Title : Medical liver biopsy: Toward a personalized approach

Abstract:

Introduction: Metabolic-(non-alcoholic) associated fatty liver disease (MAFLD/NAFLD) has increasingly become a worldwide epidemic. It has been suggested that renaming NAFLD to MAFLD is critical in identifying patients with advanced fibrosis and poor cardiovascular outcomes. There are concerns that the progression to non-alcoholic steatohepatitis (NASH) may become a constant drive in the future healthcare of children and adolescents. There is a necessity to tackle the emerging risk factors for NASH-associated hepatocellular carcinoma (HCC).

Methods: We carried out a systematic review study using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) parameters involving a literature search of academic databases (PubMed, Scopus, Medline, Google Scholar, and Cochrane Database, 2011– 2023) targeting specifically the handling of liver biopsies for MAFLD/NAFLD. Data were extracted and used to determine the current Children's Hospital of Eastern Ontario grossing protocol.

Results: The studies show the ability to detect MAFLD/NAFLD in liver biopsies with accuracy by implementing Oil red O staining and preserving the rest of the frozen tissue for studies involving single nucleotide polymorphisms (SNPs). Here, we present the current protocol of liver biopsy separated between pre-analytical, analytical, and post-analytical handling. Genetic association investigations have identified single nucleotide polymorphisms implicated in the progression of MAFLD-HCC, many of which seem to belong to the lipid metabolism pathways. PNPLA3 rs738409 variant, TM6SF2 rs58542926 variant, MBOAT7 rs641738 variant, and GCKR variants seem to be significantly associated with NAFLD disease susceptibility.

Conclusions: A thorough examination of the liver biopsy in MAFLD/NAFLD is critical for the management of patients with this disease. Grossing of the liver biopsy is key to identifying histologic, immunophenotypical, and ultrastructure data and properly preserving tissue for molecular genomics data, specifically for SNPs identification.

Biography:

Consolato M. Sergi is the Chief of the Anatomic Pathology Division at the Children’s Hospital of Eastern Ontario, Professor of Pediatrics and Pathology, University of Alberta and Ottawa, Canada. Dr. Sergi is Canadian, born in Rome (Italy), obtained his MD degree with honors, qualification in Pediatrics, and Pediatric Pathology Fellowship at the University of Genoa, Italy. Dr. Sergi obtained his qualification in Pathology at the Ruprecht Karl University of Heidelberg, Germany, the Clinical Reader title at the University of Bristol, UK, PhD/Habilitation at the University of Innsbruck, Austria, MPH in Austria, and FRCPC (Pathology) from the Royal College of Physicians and Surgeons of Canada. In his research, he established his Canadian laboratory in August 2008. He welcomed more than 100 graduate MSc/Ph.D. students, fellows, undergraduate and summer students with on-going teaching in Genetics and Pathology. Dr. Sergi is a Consultant of Carcinogenesis in Experimental Animals at the WHO/IARC, Lyon, France, and an “ad-hoc” Peer-Referee for the National Toxicology Program, NIH, USA. His areas of interest are Biology and Pathology of the Cardiovascular/Gastrointestinal System and Gut/Bile Microbiome as well as Bone Cell Biology. Dr. Sergi has >300 peer-reviewed PubMed publications (h-index: 23, RG-score: 44.26, > 2,500 citations). He identified the role of apoptosis in the ductal plate malformation of the liver (Am J Pathol, 2000), a new CTL4/Neu1 gene fusion transcript in sialidosis (Hum Genet 2001, FEBS Lett 2002, J Med Genet 2003), two new genes, i.e., WDR62, which encodes a centrosome-associated protein (Nat Genet 2010) and OTX2, mutations of which contribute to dysgnathia (J Med Genet 2012), as well as characteristics of the bile microbiome (Infect Drug Resist 2019, HPB (Oxford) 2019, J Med Microbiol 2018, Eur J Clin Microbiol Infect Dis, 2018). He is editor in chief and in the editorial board of prestigious medical journals and international agencies.