Alessandro Gambella, Tenure-track Assistant Professor at Università degli Studi di Genova, shared on LinkedIn:
“Can we obtain meaningful molecular results from a cholangiocarcinoma tissue sample containing only 5% neoplastic cells?
Yes, but sometimes you need to be creative and think outside the box! That is what we did with one of our patients’ precious tissue biopsies.
I am very happy to share that our latest paper, ‘Scant Tissue, Actionable Result: Molecularly Tagged Sequencing of a Low-Cellularity Cholangiocarcinoma Specimen Using a Cell-Free Nucleic Acid Assay,’ has been accepted for publication in Cancer Genetics!
In this report, we explored an alternative approach to a very practical problem: performing molecular profiling on a nearly exhausted FFPE specimen containing only 5% neoplastic cells. By applying a molecularly tagged NGS assay originally developed for circulating cell-free nucleic acids, we obtained evaluable molecular data, including a KRAS mutation and a low-frequency IDH1 signal requiring cautious interpretation.
This is a preliminary, single-case experience and not a validated diagnostic strategy, but we hope it can stimulate further discussion on how to maximize the information obtainable from challenging specimens, particularly when tissue is extremely limited.
Last, but not least, this result occurs only thanks to a crucial multidisciplinary collaboration between pathologists, molecular biologists, and oncologists, as well as the need for careful interpretation and transparent reporting when adopting non-standard molecular approaches.
Therefore, a special thank you to Anna Garuti, Stefania Sciallero, Silvia Bozzano, Luca Mastracci, and Federica Grillo for their invaluable contributions, expertise, and excellent collaboration!”
Title: Scant Tissue, Actionable Result: molecularly tagged sequencing of a low-cellularity cholangiocarcinoma specimen using a cell-free nucleic acid assay
Authors: Alessandro Gambella, Anna Garuti, Stefania Sciallero, Silvia Bozzano, Luca Mastracci, Federica Grillo.
Read the full article.
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