دورية أكاديمية

Comprehensive Genomic Studies on the Cell Blocks of Pancreatic Cancer

التفاصيل البيبلوغرافية
العنوان: Comprehensive Genomic Studies on the Cell Blocks of Pancreatic Cancer
المؤلفون: Ricella Souza da Silva, Maria João Pina, Luís Cirnes, Luís Gouveia, André Albergaria, Fernando Schmitt
المصدر: Diagnostics, Vol 14, Iss 9, p 906 (2024)
بيانات النشر: MDPI AG, 2024.
سنة النشر: 2024
المجموعة: LCC:Medicine (General)
مصطلحات موضوعية: pancreatic cancer, cell blocks, cytopathology, molecular testing, large genomic panel, Medicine (General), R5-920
الوصف: Pancreatic cancer is one of the deadliest malignancies, characterized by late-stage diagnosis and limited treatment options. Comprehensive genomic profiling plays an important role in understanding the molecular mechanisms underlying the disease and identifying potential therapeutic targets. Cell blocks (CBs), derived from EUS-FNA, have become valuable resources for diagnosis and genomic analysis. We examine the molecular profile of pancreatic ductal adenocarcinoma (PDAC) using specimens obtained from CB EUS-FNA, across a large gene panel, within the framework of next-generation sequencing (NGS). Our findings revealed that over half (55%) of PDAC CB cases provided adequate nucleic acid for next-generation sequencing, with tumor cell percentages averaging above 30%. Despite challenges such as low DNA quantification and degraded DNA, sequencing reads showed satisfactory quality control statistics, demonstrating the detection of genomic alterations. Most cases (84.6%) harbored at least one gene variant, including clinically significant gene mutation variants such as KRAS, TP53, and CDKN2A. Even at minimal concentrations, as long as the extracted DNA is of high quality, performing comprehensive molecular profiling on PDAC samples from cell blocks has remained feasible. This strategy has yielded valuable information about the diagnosis, genetic landscape, and potential therapeutic targets, aligning closely with a precision cytopathology approach.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2075-4418
Relation: https://www.mdpi.com/2075-4418/14/9/906; https://doaj.org/toc/2075-4418
DOI: 10.3390/diagnostics14090906
URL الوصول: https://doaj.org/article/0e75523d15b4427a81f2a313f4ae51ec
رقم الأكسشن: edsdoj.0e75523d15b4427a81f2a313f4ae51ec
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20754418
DOI:10.3390/diagnostics14090906