In vivo optical imaging-guided targeted sampling for precise diagnosis and molecular pathology
Year: 2021
Type: article
Abstract: Conventional tissue sampling can lead to misdiagnoses and repeated biopsies. Additionally, tissue processed for histopathology suffers from poor nucleic acid quality and/or quantity for downstream molecular profiling. Targeted micro-sampling of tissue can ensure accurate diagnosis and molecular profiling in the presence of spatial heterogeneity, especially in tumors, and facilitate acquisition of fresh tissue for molecular analysis. In this study, we explored the feasibility of performing 1-2 mm precision biopsies guided by high-resolution reflectance confocal microscopy (RCM) and optical coherence tomography (OCT), and reflective metallic grids for accurate spatial targeting. Accurate sampling was confirmed with either histopathology or molecular profiling through next generation sequencing (NGS) in 9 skin cancers in 7 patients. Imaging-guided 1-2 mm biopsies enabled spatial targeting for in vivo diagnosis, feature correlation and depth assessment, which were confirmed with histopathology. In vivo 1-mm targeted biopsies achieved adequate quantity and high quality of DNA for next-generation sequencing. Subsequent mutational profiling was confirmed on 1 melanoma in situ and 2 invasive melanomas, using a 505-gene mutational panel called Memorial Sloan Kettering-Integrated mutational profiling of actionable cancer targets (MSK-IMPACT). Differential mutational landscapes, in terms of number and types of mutations, were found between invasive and in situ melanomas in a single patient. Our findings demonstrate feasibility of accurate sampling of regions of interest for downstream histopathological diagnoses and molecular pathology in both in vivo and ex vivo settings with broad diagnostic, therapeutic and research potential in cutaneous diseases accessible by RCM-OCT imaging.
Source: Scientific Reports
Authors: Aditi Sahu, Yuna Oh, Gary Peterson, Miguel Cordova, Cristian Navarrete-Dechent, Melissa Gill, Christi Alessi-Fox, Salvador Gonzalez, William Phillips, Steven Wilson, Reza Afzalneia, Raven Rose, Abu-Akeel Mohsen, Danielle Bello, Ashfaq Marghoob, Anthony Rossi, Jedd D. Wolchok, Taha Merghoub, Veronica Rotemberg, Chih-Shan Jason Chen, Milind Rajadhyaksha
Language: English
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,990
Funders: Melanoma Research Foundation, Amgen, Bristol-Myers Squibb, Eli Lilly and Company, Pfizer, AstraZeneca, Melanoma Research Alliance, Massachusetts General Hospital, Memorial Sloan-Kettering Cancer Center, Parker Institute for Cancer Immunotherapy, LAM Therapeutics, Tizona Therapeutics, Adaptive Biotechnologies, Swim Across America, Cycle for Survival, BeiGene, Syndax Pharmaceuticals, Ascentage Pharma, Kyowa Hakko Kirin, Astellas Pharma, National Institutes of Health, Allergan, Chugai Pharmaceutical, Marie-Josée and Henry R. Kravis Center for Molecular Oncology, National Cancer Institute, National Institute of Biomedical Imaging and Bioengineering, Daiichi Sankyo Europe
Awards: Peri-operative confocal imaging-guided laser ablation of basal cell carcinomas, G4621852861, G546047228, Simultaneous coaxial widefield imaging and reflectance confocal microscopy for improved diagnosis of skin cancers in vivo, G9000073387, G9000269397, Cancer Center Support Grant, G918539312
OpenAlex ID: W3168073034