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In vivo optical imaging-guided targeted sampling for precise diagnosis and molecular pathology.
Sahu, Aditi Oh, Yuna Peterson, Gary Cordova, Miguel Navarrete-Dechent, Cristian Gill, Melissa Alessi-Fox, Christi Gonzalez, Salvador Phillips, William Wilson, Steven
Sahu, Aditi
Oh, Yuna
Peterson, Gary
Cordova, Miguel
Navarrete-Dechent, Cristian
Gill, Melissa
Alessi-Fox, Christi
Gonzalez, Salvador
Phillips, William
Wilson, Steven
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Scientific reports
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2021-11-30
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11
Publication Issue
1
Publication Begin
23124
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s41598-021-01447-4.pdf
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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.
Citation
Sahu A, Oh Y, Peterson G, Cordova M, Navarrete-Dechent C, Gill M, Alessi-Fox C, Gonzalez S, Phillips W, Wilson S, Afzalneia R, Rose R, Mohsen AA, Bello D, Marghoob A, Rossi A, Wolchok JD, Merghoub T, Rotemberg V, Jason Chen CS, Rajadhyaksha M. In vivo optical imaging-guided targeted sampling for precise diagnosis and molecular pathology. Sci Rep. 2021 Nov 30;11(1):23124. doi: 10.1038/s41598-021-01447-4. PMID: 34848749; PMCID: PMC8633337.