In vivo optical imaging-guided targeted sampling for precise diagnosis and molecular pathology

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dc.contributor.authorSahu, Aditi
dc.contributor.authorOh, Yuna
dc.contributor.authorPeterson, Gary
dc.contributor.authorCordova, Miguel
dc.contributor.authorNavarrete-Dechent, Cristian
dc.contributor.authorGill, Melissa
dc.contributor.authorAlessi-Fox, Christi
dc.contributor.authorGonzalez, Salvador
dc.contributor.authorPhillips, William
dc.contributor.authorWilson, Steven
dc.contributor.authorAfzalneia, Reza
dc.contributor.authorRose, Raven
dc.contributor.authorMohsere, Abu-Akeel
dc.contributor.authorBello, Danielle
dc.contributor.authorMarghoob, Ashfaq
dc.contributor.authorRossi, Anthony
dc.contributor.authorWolchok, Jedd D.
dc.contributor.authorMerghoub, Taha
dc.contributor.authorRotemberg, Veronica
dc.contributor.authorChen, Chih-Shan Jason
dc.contributor.authorRajadhyaksha, Milind
dc.date.accessioned2025-01-20T22:04:24Z
dc.date.available2025-01-20T22:04:24Z
dc.date.issued2021
dc.description.abstractConventional 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.
dc.fuente.origenWOS
dc.identifier.doi10.1038/s41598-021-01447-4
dc.identifier.issn2045-2322
dc.identifier.urihttps://doi.org/10.1038/s41598-021-01447-4
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/94085
dc.identifier.wosidWOS:000724479000054
dc.issue.numero1
dc.language.isoen
dc.revistaScientific reports
dc.rightsacceso restringido
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleIn vivo optical imaging-guided targeted sampling for precise diagnosis and molecular pathology
dc.typeartículo
dc.volumen11
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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