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1.
Sci Rep ; 11(1): 23124, 2021 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-34848749

RESUMO

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.


Assuntos
Biópsia/métodos , Microscopia Confocal/métodos , Neoplasias Cutâneas/genética , Tomografia de Coerência Óptica/métodos , Alelos , Carcinoma Basocelular/patologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Sarda Melanótica de Hutchinson/patologia , Queratinócitos/patologia , Ceratose Actínica/patologia , Melanoma/patologia , Mutação , Patologia Molecular , Medicina de Precisão , Reprodutibilidade dos Testes , Neoplasias Cutâneas/patologia
2.
J Am Acad Dermatol ; 73(5): 791-8, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26341142

RESUMO

BACKGROUND: Facing rising incidence of basal cell carcinoma (BCC) and increasing pressure to contain health care spending, physicians need to contemplate cost-effective paradigms for managing BCC. OBJECTIVE: We sought to perform a cost analysis comparing the traditional BCC management scheme with a simplified detect-and-treat scheme that eliminates the biopsy before initiating definitive treatment. METHODS: A decision analytic model was developed to compare the costs of traditional BCC management with the detect-and-treat scheme, under which qualifying lesions diagnosed clinically were either treated with shave removal or referred to Mohs micrographic surgery for on-site histologic check. Values for model parameters were based on literature and our institutional data analysis. Costs were based on 2014 Medicare fee schedule. RESULTS: The average cost per lesion with detect-and-treat scheme was $449 for non-Mohs micrographic surgery-indicated lesions (vs $566 with traditional management, $117 in savings) and $819 for Mohs micrographic surgery-indicated lesions (vs $864 with traditional management, $45 in savings). The combined weighted average savings per case was $95 (15% of total average cost). Conclusions were similar under various plausible scenarios. LIMITATIONS: Model parameter values may vary based on individual practices. CONCLUSIONS: A simplified management strategy eliminating routine pretreatment biopsy can reduce BCC treatment cost without compromising quality of care.


Assuntos
Biópsia/economia , Carcinoma Basocelular/economia , Carcinoma Basocelular/cirurgia , Cirurgia de Mohs/economia , Neoplasias Cutâneas/economia , Neoplasias Cutâneas/cirurgia , Idoso , Carcinoma Basocelular/diagnóstico , Redução de Custos , Análise Custo-Benefício , Árvores de Decisões , Feminino , Humanos , Masculino , Medicare , Sensibilidade e Especificidade , Neoplasias Cutâneas/diagnóstico , Estados Unidos
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