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  1. Shi R, Chew MH, Leow WQ
    Malays J Pathol, 2017 Dec;39(3):293-296.
    PMID: 29279593
    Gastrointestinal stromal tumour (GIST) is a common mesenchymal tumour arising in the gastrointestinal tract, but not frequently encountered in the rectum. Herein, we describe a case of a rectal GIST which mimicked histomorphological features of a schwannoma; thus, making intraoperative frozen section evaluation challenging. Although subsequent immunohistochemistry and molecular findings readily confirmed the diagnosis of a GIST, we wish to draw attention to three clues that will help the pathologist steer clear of this potential diagnostic pitfall. One, GISTs are relatively more common than schwannomas in the rectum. Two, schwannomas usually have very little mitoses. Three, rectal GISTs commonly exhibit nuclear palisades. We also discuss the diagnostic, prognostic and therapeutic functions of immunohistochemical and molecular investigations. As the surgical intent for rectal GISTs is for en-bloc excision with wide margins, we surmise that the intraoperative consult should include GIST as a possible differential diagnosis for rectal mesenchymal tumours. In view of the potential for neoadjuvant treatment with imatinib before surgical excision to preserve sphincter function, a multidisciplinary approach is recommended for establishing most effective treatment strategy in these rare complex cases.
  2. Jeon AJ, Teo YY, Sekar K, Chong SL, Wu L, Chew SC, et al.
    BMC Cancer, 2023 Feb 03;23(1):118.
    PMID: 36737737 DOI: 10.1186/s12885-022-10444-3
    BACKGROUND: Conventional differential expression (DE) testing compares the grouped mean value of tumour samples to the grouped mean value of the normal samples, and may miss out dysregulated genes in small subgroup of patients. This is especially so for highly heterogeneous cancer like Hepatocellular Carcinoma (HCC).

    METHODS: Using multi-region sampled RNA-seq data of 90 patients, we performed patient-specific differential expression testing, together with the patients' matched adjacent normal samples.

    RESULTS: Comparing the results from conventional DE analysis and patient-specific DE analyses, we show that the conventional DE analysis omits some genes due to high inter-individual variability present in both tumour and normal tissues. Dysregulated genes shared in small subgroup of patients were useful in stratifying patients, and presented differential prognosis. We also showed that the target genes of some of the current targeted agents used in HCC exhibited highly individualistic dysregulation pattern, which may explain the poor response rate.

    DISCUSSION/CONCLUSION: Our results highlight the importance of identifying patient-specific DE genes, with its potential to provide clinically valuable insights into patient subgroups for applications in precision medicine.

  3. Chen J, Kaya NA, Zhang Y, Kendarsari RI, Sekar K, Lee Chong S, et al.
    J Hepatol, 2024 May 21.
    PMID: 38782118 DOI: 10.1016/j.jhep.2024.05.017
    BACKGROUND & AIMS: Hepatocellular carcinoma (HCC) is a highly fatal cancer characterized by high intra-tumor heterogeneity (ITH). A panoramic understanding of its tumor evolution, in relation to its clinical trajectory, may provide novel prognostic and treatment strategies.

    METHODS: Through the Asia-Pacific Hepatocellular Carcinoma trials group (NCT03267641), we recruited one of the largest prospective cohorts of patients with HCC, with over 600 whole genome and transcriptome samples from 123 treatment-naïve patients.

    RESULTS: Using a multi-region sampling approach, we revealed seven convergent genetic evolutionary paths governed by the early driver mutations, late copy number variations and viral integrations, which stratify patient clinical trajectories after surgical resection. Furthermore, such evolutionary paths shaped the molecular profiles, leading to distinct transcriptomic subtypes. Most significantly, although we found the coexistence of multiple transcriptomic subtypes within certain tumors, patient prognosis was best predicted by the most aggressive cell fraction of the tumor, rather than by overall degree of transcriptomic ITH level - a phenomenon we termed the 'bad apple' effect. Finally, we found that characteristics throughout early and late tumor evolution provide significant and complementary prognostic power in predicting patient survival.

    CONCLUSIONS: Taken together, our study generated a comprehensive landscape of evolutionary history for HCC and provides a rich multi-omics resource for understanding tumor heterogeneity and clinical trajectories.

    IMPACT AND IMPLICATIONS: This prospective study, utilizing comprehensive multi-sector, multi-omics sequencing and clinical data from surgically resected hepatocellular carcinoma (HCC), reveals critical insights into the role of tumor evolution and intra-tumor heterogeneity (ITH) in determining the prognosis of HCC. These findings are invaluable for oncology researchers and clinicians, as they underscore the influence of distinct evolutionary paths and the 'bad apple' effect, where the most aggressive tumor fraction dictates disease progression. These insights not only enhance prognostic accuracy post-surgical resection but also pave the way for personalized treatment strategies tailored to specific tumor evolutionary and transcriptomic profiles. The coexistence of multiple subtypes within the same tumor prompts a re-appraisal of the utilities of depending on single samples to represent the entire tumor and suggests the need for clinical molecular imaging. This research thus marks a significant step forward in the clinical understanding and management of HCC, underscoring the importance of integrating tumor evolutionary dynamics and multi-omics biomarkers into therapeutic decision-making.

    CLINICAL TRIAL NUMBER: NCT03267641 (Observational cohort).

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