Understanding the disease trajectories of specific diseases can provide important clinical insights. In this paper, we aimed to discover signature disease trajectories of 3 rare cancer types: pancreatic cancer, soft tissue sarcoma (STS) of the trunk and extremity (STS-TE), and STS of the abdomen and retroperitoneum (STS-AR), leveraging IQVIA Oncology Electronic Medical Record. We identified significant diagnosis pairs in patients with these cancers through matched cohort sampling, statistical computation, right-tailed binomial hypothesis test, and visualized trajectories up to 3 progressions. Results included 266 significant diagnosis pairs for pancreatic cancer, 130 for STS-TE, and 118 for STS-AR. We further found 44 2-hop (i.e., 2-progression) and 136 3-hop trajectories before pancreatic cancer, 36 2-hop and 37 3-hop trajectories before STS-TE, and 17 2-hop and 5 3-hop trajectories before STS-AR. Meanwhile, we found 54 2-hop and 129 3-hop trajectories following pancreatic cancer, 11 2-hop and 17 3-hop trajectories following STS-TE, 5 2-hop and 0 3-hop trajectories following STS-AR. Systematic validation of discovered trajectories with the UTHealth Electronic Health Records confirmed the feasibility and reliability of our method. Our result suggested that some key clinical features can potentially serve as early markers of rare cancers. This approach is generalizable to other disease types and real-world longitudinal patient records.

The authors have declared no competing interest.

The Cancer Prevention Research Institute of Texas (CPRIT) RR230020, National Institute of Aging grant RF1AG072799, National Human Genome Research Institute R01HG12748, and National Library of Medicine R01LM11934.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The data that support the findings of this study are available from IQVIA. IQVIA has approved the publication of the manuscript.

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The data that support the findings of this study are available from IQVIA but restrictions apply to the availability of these data, which were used under license for the current study, and so are not publicly available. Data are however available from the authors upon reasonable request and with permission of IQVIA. Other data is provided within the manuscript or supplementary information files.