# Mapping of Lesion Images to Somatic Mutations

arXiv: https://arxiv.org/abs/2512.02162 · HTML: https://mlsanity.com/paper/2512.02162/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 16 of its 41 references that are in the map.
- First posted on arXiv 1 Dec 2025.

## Builds on (most cited first, 16 of 16)

- [PointNet: Deep Learning on Point Sets for 3D Classification and Segmentation](https://mlsanity.com/paper/1612.00593/) (2016)
- [Variational Inference with Normalizing Flows](https://mlsanity.com/paper/1505.05770/) (2015)
- [Density estimation using Real NVP](https://mlsanity.com/paper/1605.08803/) (2016)
- [Glow: Generative Flow with Invertible 1x1 Convolutions](https://mlsanity.com/paper/1807.03039/) (2018)
- [NICE: Non-linear Independent Components Estimation](https://mlsanity.com/paper/1410.8516/) (2014)
- [Improving Variational Inference with Inverse Autoregressive Flow](https://mlsanity.com/paper/1606.04934/) (2016)
- [Return of Frustratingly Easy Domain Adaptation](https://mlsanity.com/paper/1511.05547/) (2015)
- [Adversarial Autoencoders](https://mlsanity.com/paper/1511.05644/) (2015)
- [Ladder Variational Autoencoders](https://mlsanity.com/paper/1602.02282/) (2016)
- [VAE with a VampPrior](https://mlsanity.com/paper/1705.07120/) (2017)
- [Analyzing Inverse Problems with Invertible Neural Networks](https://mlsanity.com/paper/1808.04730/) (2018)
- [Learning Deep Structure-Preserving Image-Text Embeddings](https://mlsanity.com/paper/1511.06078/) (2015)
- [Generative and Discriminative Voxel Modeling with Convolutional Neural Networks](https://mlsanity.com/paper/1608.04236/) (2016)
- [Latent Normalizing Flows for Discrete Sequences](https://mlsanity.com/paper/1901.10548/) (2019)
- [On the challenges of learning with inference networks on sparse, high-dimensional data](https://mlsanity.com/paper/1710.06085/) (2017)
- [Latent Normalizing Flows for Many-to-Many Cross-Domain Mappings](https://mlsanity.com/paper/2002.06661/) (2020)

## Abstract (arXiv)

Medical imaging is a critical initial tool used by clinicians to determine a patient's cancer diagnosis, allowing for faster intervention and more reliable patient prognosis. At subsequent stages of patient diagnosis, genetic information is extracted to help select specific patient treatment options. As the efficacy of cancer treatment often relies on early diagnosis and treatment, we build a deep latent variable model to determine patients' somatic mutation profiles based on their corresponding medical images. We first introduce a point cloud representation of lesions images to allow for invariance to the imaging modality. We then propose, LLOST, a model with dual variational autoencoders coupled together by a separate shared latent space that unifies features from the lesion point clouds and counts of distinct somatic mutations. Therefore our model consists of three latent space, each of which is learned with a conditional normalizing flow prior to account for the diverse distributions of each domain. We conduct qualitative and quantitative experiments on de-identified medical images from The Cancer Imaging Archive and the corresponding somatic mutations from the Pan Cancer dataset of The Cancer Genomic Archive. We show the model's predictive performance on the counts of specific mutations as well as it's ability to accurately predict the occurrence of mutations. In particular, shared patterns between the imaging and somatic mutation domain that reflect cancer type. We conclude with a remark on how to improve the model and possible future avenues of research to include other genetic domains.
