EACR25-2023

integrative Molecular Tumor Board (iMTB): A Decision-Support Tool for Precision Cancer Medicine in iCAN

R. Kumari1, W. Wang1, T. Luck1, L. Gerber1, S. Kuusela1, C. Sarmento1, E. Pitkänen1,2, S. Nakken3, V. Pietiäinen1
1University of Helsinki, Institute for Molecular Medicine Finland - FIMM, HiLIFE – Helsinki Institute of Life Science, iCAN Digital Precision Cancer Medicine Flagship, Helsinki, Finland
2University of Helsinki, Applied Tumor Genomics Research Program, Research Programs Unit, Helsinki, Finland
3Oslo University Hospital, Department of Tumor Biology, the Institute for Cancer Research, Oslo, Norway
Introduction:

As part of the Finnish digital cancer precision medicine flagship (iCAN) initiative, a substantial collection of molecular profiling and clinical data is being gathered from individual cancer patients (current participants: n=3811). To identify clinically relevant and actionable results from molecular data of each patient and to present the findings in a concise and well-structured report, we have established a reporting platform, integrative Molecular Tumor Board (iMTB). This system consolidates clinically relevant molecular profiling findings and facilitates the integration of these findings to the Biobank and clinical workflows.

Material and method:

The iMTB currently leverages the Personal Cancer Genome Reporter (PCGR) tool (Nakken et al., 2018) for exome sequencing data, analyzing somatic mutations, copy number alterations (amplifications and deletions), and germline variants. Additionally, new modules have been integrated for RNA-seq data and cancer fusion proteins. The iMTB operates in a pan-cancer framework within iCAN but is also adaptable for other translational studies. Within iCAN, iMTB reports have been implemented across various cancer types, including pediatric cancers, urological cancers, rare tumors, breast cancer, and ovarian cancer.

Result and discussion:

This workflow is currently being piloted for pediatric solid tumors (n=86) and rare cancers (n=113) at the Helsinki University Hospital (HUS) through the iCAN Flagship initiative and associated studies. At the request of clinicians and with the patient's consent, the iMTB reports are delivered to clinics via the Helsinki Biobank (HBB). Our pilot study highlights the translational impact of molecular profiling, such as identifying pathogenic germline variants to be further validated in diagnostic laboratories. These findings demonstrate that iMTB addresses a critical gap, enhancing Helsinki Biobank’s and the research community’s ability to effectively translate research findings into clinical practice, ultimately benefiting the patients.

Conclusion:

Looking ahead, we aim to further enhance the iMTB tool through open science collaborations and continuous development. This initiative will continue to support the visualization of complex omics data, streamline research efforts, and facilitate the translation of preclinical cancer research into clinically applicable tools, ultimately advancing precision medicine and improving patient outcomes.