Journal of the American Society of Cytopathology · 2026
Analytical reliability of cell-free DNA from fine-needle aspiration rinses for BRAF and NRAS testing in metastatic melanoma.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Nacchio Mariantonia, Di Giovanni Domenica, Iaccarino Antonino, Pepe Francesco, Gragnano Gianluca, Russo Gianluca, Scimone Claudia, Sarracino Claudia, Salatiello Maria, Alfano Sabrina, Acanfora Gennaro, Carillo Anna Maria, Cozzolino Domenico, De Luca Caterina, Vigliar Elena, Bellevicine Claudio, Malapelle Umberto, Troncone Giancarlo, Pisapia Pasquale
Аннотация
INTRODUCTION: Molecular profiling is essential for the management of metastatic melanoma, particularly for identifying patients eligible for targeted therapies against BRAF and NRAS alterations. Although cell blocks (CBs) represent the conventional source for molecular testing in cytology, specimen limitations frequently hinder analysis.
MATERIALS AND METHODS: We retrospectively evaluated metastatic melanoma cases undergoing fine-needle aspiration at our institution from January 2018 to November 2025. Cell-free DNA (cfDNA) extracted from needle rinses collected in nuclease-free water was compared with DNA derived from CBs for BRAF p.V600E and NRAS p.Q61X mutational analysis using RT-qPCR.
RESULTS: Thirty-four cases were included. All cfDNA samples were evaluable, whereas only 26.5% of CBs yielded sufficient material for molecular testing. cfDNA analysis detected BRAF p.V600E in 61.8% and NRAS p.Q61X in 11.8% of cases, with 26.4% wild type. Among CBs, BRAF mutations were identified in 55.6%. Only one discordant case was observed, with BRAF p.V600E detected exclusively in cfDNA.
CONCLUSIONS: cfDNA from fine-needle aspiration rinses provides a highly reliable and efficient substrate for molecular testing in metastatic melanoma, outperforming CB-based analysis in terms of sample adequacy. This approach preserves cellular material for ancillary studies and may reduce false-negative results. Prospective studies using broader next generation sequencing panels are warranted to confirm analytical robustness and clinical utility.
MATERIALS AND METHODS: We retrospectively evaluated metastatic melanoma cases undergoing fine-needle aspiration at our institution from January 2018 to November 2025. Cell-free DNA (cfDNA) extracted from needle rinses collected in nuclease-free water was compared with DNA derived from CBs for BRAF p.V600E and NRAS p.Q61X mutational analysis using RT-qPCR.
RESULTS: Thirty-four cases were included. All cfDNA samples were evaluable, whereas only 26.5% of CBs yielded sufficient material for molecular testing. cfDNA analysis detected BRAF p.V600E in 61.8% and NRAS p.Q61X in 11.8% of cases, with 26.4% wild type. Among CBs, BRAF mutations were identified in 55.6%. Only one discordant case was observed, with BRAF p.V600E detected exclusively in cfDNA.
CONCLUSIONS: cfDNA from fine-needle aspiration rinses provides a highly reliable and efficient substrate for molecular testing in metastatic melanoma, outperforming CB-based analysis in terms of sample adequacy. This approach preserves cellular material for ancillary studies and may reduce false-negative results. Prospective studies using broader next generation sequencing panels are warranted to confirm analytical robustness and clinical utility.