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Background <p>Despite significant advances in diagnostic cancer histopathology, a subset of tumors are unable to be classified using WHO criteria. The resulting diagnostic uncertainty can result in inappropriate clinical management and negative patient outcomes.</p> Methods <p>We investigated whether combining histopathology with whole genome and transcriptome sequencing (WGTS) could improve the classification of tumors that posed diagnostic dilemmas despite extensive histopathology and standard molecular work-up at a quaternary oncology center.</p> Results <p>We successfully sequenced 45 tumors from an initial set of 54 unclassified tumors (83% success rate). A confident diagnosis was made for 35/45 tumors (78%). Additionally, potential treatment targets were identified in 21/45 tumors (47%). Theoretical comparison with alternative assays demonstrated that WGTS was uniquely capable of detecting critical diagnostic findings in 9/35 tumors (26%).</p> Conclusions <p>This work supports augmenting histopathology and standard molecular pathology with WGTS in the classification of difficult-to-diagnose tumors.</p>

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Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月7日

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  • Joseph H.A. Vissers,
  • Catherine Mitchell,
  • Owen W. J. Prall,
  • Wing-Yee Lo,
  • Sehrish Kanwal,
  • Stephen J. Luen,
  • Stephen C. Watts,
  • Christopher M. Angel,
  • Christine Khoo,
  • Jia-Min B. Pang,
  • William K. Murray,
  • Cameron Snell,
  • Michael Christie,
  • Richard J. Rebello,
  • Richard W. Tothill,
  • Kym Pham,
  • Oliver Hofmann,
  • Stephen B. Fox,
  • Sean M. Grimmond

摘要

Background

Despite significant advances in diagnostic cancer histopathology, a subset of tumors are unable to be classified using WHO criteria. The resulting diagnostic uncertainty can result in inappropriate clinical management and negative patient outcomes.

Methods

We investigated whether combining histopathology with whole genome and transcriptome sequencing (WGTS) could improve the classification of tumors that posed diagnostic dilemmas despite extensive histopathology and standard molecular work-up at a quaternary oncology center.

Results

We successfully sequenced 45 tumors from an initial set of 54 unclassified tumors (83% success rate). A confident diagnosis was made for 35/45 tumors (78%). Additionally, potential treatment targets were identified in 21/45 tumors (47%). Theoretical comparison with alternative assays demonstrated that WGTS was uniquely capable of detecting critical diagnostic findings in 9/35 tumors (26%).

Conclusions

This work supports augmenting histopathology and standard molecular pathology with WGTS in the classification of difficult-to-diagnose tumors.