MorphoITH: A Framework for Deconvolving Intra-Tumor Heterogeneity Using Tissue Morphology

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Hauptverfasser: Nielsen, Aleksandra Weronika, Manoochehri, Hafez Eslami, Zhong, Hua, Panwar, Vandana, Jarmale, Vipul, Jasti, Jay, Nourani, Mehrdad, Rakheja, Dinesh, Brugarolas, James, Kapur, Payal, Rajaram, Satwik
Format: Preprint
Veröffentlicht: 2025
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author Nielsen, Aleksandra Weronika
Manoochehri, Hafez Eslami
Zhong, Hua
Panwar, Vandana
Jarmale, Vipul
Jasti, Jay
Nourani, Mehrdad
Rakheja, Dinesh
Brugarolas, James
Kapur, Payal
Rajaram, Satwik
author_facet Nielsen, Aleksandra Weronika
Manoochehri, Hafez Eslami
Zhong, Hua
Panwar, Vandana
Jarmale, Vipul
Jasti, Jay
Nourani, Mehrdad
Rakheja, Dinesh
Brugarolas, James
Kapur, Payal
Rajaram, Satwik
contents The ability of tumors to evolve and adapt by developing subclones in different genetic and epigenetic states is a major challenge in oncology. Traditional tools like multi-regional sequencing used to study tumor evolution and the resultant intra-tumor heterogeneity (ITH) are often impractical because of their resource-intensiveness and limited scalability. Here, we present MorphoITH, a novel framework that leverages histopathology slides to deconvolve molecular ITH through tissue morphology. MorphoITH integrates a self-supervised deep learning similarity measure to capture phenotypic variation across multiple dimensions (cytology, architecture, and microenvironment) with rigorous methods to eliminate spurious sources of variation. Using a prototype of ITH, clear cell renal cell carcinoma (ccRCC), we show that MorphoITH captures clinically-significant biological features, such as vascular architecture and nuclear grades. Furthermore, we find that MorphoITH recognizes differential biological states corresponding to subclonal changes in key driver genes (BAP1/PBRM1/SETD2). Finally, by applying MorphoITH to a multi-regional sequencing experiment, we postulate evolutionary trajectories that largely recapitulate genetic evolution. In summary, MorphoITH provides a scalable phenotypic lens that bridges the gap between histopathology and genomics, advancing precision oncology.
format Preprint
id arxiv_https___arxiv_org_abs_2502_00979
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle MorphoITH: A Framework for Deconvolving Intra-Tumor Heterogeneity Using Tissue Morphology
Nielsen, Aleksandra Weronika
Manoochehri, Hafez Eslami
Zhong, Hua
Panwar, Vandana
Jarmale, Vipul
Jasti, Jay
Nourani, Mehrdad
Rakheja, Dinesh
Brugarolas, James
Kapur, Payal
Rajaram, Satwik
Quantitative Methods
The ability of tumors to evolve and adapt by developing subclones in different genetic and epigenetic states is a major challenge in oncology. Traditional tools like multi-regional sequencing used to study tumor evolution and the resultant intra-tumor heterogeneity (ITH) are often impractical because of their resource-intensiveness and limited scalability. Here, we present MorphoITH, a novel framework that leverages histopathology slides to deconvolve molecular ITH through tissue morphology. MorphoITH integrates a self-supervised deep learning similarity measure to capture phenotypic variation across multiple dimensions (cytology, architecture, and microenvironment) with rigorous methods to eliminate spurious sources of variation. Using a prototype of ITH, clear cell renal cell carcinoma (ccRCC), we show that MorphoITH captures clinically-significant biological features, such as vascular architecture and nuclear grades. Furthermore, we find that MorphoITH recognizes differential biological states corresponding to subclonal changes in key driver genes (BAP1/PBRM1/SETD2). Finally, by applying MorphoITH to a multi-regional sequencing experiment, we postulate evolutionary trajectories that largely recapitulate genetic evolution. In summary, MorphoITH provides a scalable phenotypic lens that bridges the gap between histopathology and genomics, advancing precision oncology.
title MorphoITH: A Framework for Deconvolving Intra-Tumor Heterogeneity Using Tissue Morphology
topic Quantitative Methods
url https://arxiv.org/abs/2502.00979