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A comparison of DP-TOF Mass Spectroscopy (MS) and Next Generation Sequencing (NGS) methods for detecting molecular

Xiao-Qin Qian1, Enock Adjei Agyekum1,2, Ling-Ling Zhao3

  • 1Department of Ultrasound, Affiliated People's Hospital of Jiangsu University, Zhenjiang, China.

Frontiers in Endocrinology
|August 22, 2022
PubMed

Insights

DNA mass spectroscopy (MS) is an accurate and inexpensive method for detecting gene mutations like BRAFV600E in thyroid nodules. This method shows high sensitivity and specificity, making it a reliable tool for initial cancer screening.

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Mutations in the B-Raf proto-oncogene, serine/threonine kinase (BRAF), are associated with various solid tumors, including papillary thyroid carcinoma.
  • Accurate detection of these mutations is crucial for diagnosis and treatment planning.

Purpose of the Study:

  • To compare the diagnostic performance of DNA mass spectroscopy (MS) and next-generation sequencing (NGS) for detecting multiple gene mutations in thyroid nodule fine-needle aspiration fluid.
  • To evaluate MS as a potential screening tool for BRAFV600E and other gene mutations.

Main Methods:

  • DNA samples from 93 patients previously tested by NGS were analyzed using the MS platform for multiple gene mutations, including BRAFV600E.
  • NGS was used as the standard for comparison.
  • Postoperative pathological findings from 50 patients were also used as a standard for validation.

Main Results:

  • The MS method demonstrated high accuracy for BRAFV600E detection, with 95.8% sensitivity and 100% specificity compared to NGS.
  • The agreement between MS and NGS was very high (kappa = 0.92).
  • For multiple gene detection, MS showed 82.9% sensitivity and 100% specificity versus NGS.
  • When compared to postoperative pathology, MS had 80% sensitivity and 80% specificity.

Conclusions:

  • The MS method is a cost-effective, accurate, and reliable tool for initial screening of gene mutations in thyroid nodules.
  • MS can serve as a valuable adjunct to clinical diagnosis, complementing existing methods like NGS.
Keywords:
BRAF genefine needle aspirationmass spectroscopynext generation sequencingthyroid nodules

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