Motivation Tumor mutational burden (TMB) is an indicator of the efficacy and prognosis of immune checkpoint therapy in colorectal cancer (CRC). Cancer patients with high TMB (TMB_H) values tend to benefit from immunotherapy, whereas those with low TMB (TMB_L) values tend to be not. Though whole-exome sequencing (WES) is considered the gold standard for determining TMB, it is difficult to be applied in clinical practice due to its high cost. There are also a few DNA panel-based methods to estimate TMB; however, their detection cost is also high, and the associated wet-lab experiments usually take days, which emphasize the need for faster and cheaper alternatives. Methods In this study, we propose a multi-modal deep learning model based on a residual network (ResNet) and multi-modal compact bilinear pooling to predict TMB status (i.e., TMB_H or TMB_L) directly from histopathological images and clinical data. We applied the model to CRC data from The Cancer Genome Atlas and compared it with four other popular methods, namely, ResNet18, ResNet50, VGG19, and AlexNet. We tested different TMB thresholds, namely, percentiles of 10%, 14.3%, 15%, 16.3%, 20%, 30% and 50%, to differentiate TMB_H and TMB_L. Results For the percentile 14.3% (i.e., TMB value 20) and ResNet18, our model achieved an area under the receiver operating characteristic curve of 0.817 after five-fold cross-validation, which was better than that of other compared models. In addition, we also found that TMB values were significantly associated with tumor stage and N and M stages. Our study shows that deep learning models can predict TMB status from histopathological images and clinical information only, which is worth clinical application.
Background: Perivascular epithelial cell malignant tumor (PEComa) is a mesenchymal tumor with the characteristics of perivascular epithelioid cells in histology and immunophenotype. It mostly occurs in kidney, uterus, liver and so on. Solid pseudopapillary is a tumor that commonly originates in the pancreas. Solid pseudopapillary of ovary is similar to PEComa in histology and is easily misdiagnosed in clinic. This paper reports a case of malignant gastrointestinal PEComa misdiagnosed as solid pseudopapillary neoplasm of ovary. Case summary: A 35-year-old female patient came to our hospital with intermittent right lower abdominal pain for more than 1 month. After the completion of relevant examinations, the possibility of sigmoid colon tumor infiltration in the right adnexa was considered before surgery. On February 12, 2018, the tumor was surgically removed, the pathological examination showed that there was solid pseudopapillary neoplasm of the ovary. The patient received four cycles of chemotherapy with paclitaxel and platinum after surgery. The patient recovered well after operation, and there were no complications. Two years later, a pulmonary nodule was found in the reexamination, and the pulmonary lesions were surgically removed. Immunotherapy (Tislelizumab) and targeted therapy (Apatinib) are then given. After consulting several laboratories and testing institutions, the final diagnosis was (sigmoid colon) Malignant gastrointestinal PEComa involves (right) ovary and (right upper lung) lung metastasis. The patient died a month ago from complications. Discussion: Clinicians must understand PEComa in order to achieve early detection, early diagnosis and early treatment.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.