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Molecular mutations as a possible factor for determining extent of thyroid surgery.

Abstract

BACKGROUND

Molecular testing of thyroid nodules is a diagnostic tool used to better understand the nature of thyroid nodules. The aim of this study is to better comprehend the relationship between specific mutations and aggressive behavior of the tumour as demonstrated on postoperative pathological analysis.

METHODS

A retrospective chart review of 103 cases was performed. Included were patients who had undergone molecular testing using a panel that tests for 9 mutations (ThyGenX®) and were found to have malignant tumours. The following gene alterations were found pre-operatively in the nodules: BRAF V600E (n = 32), BRAF K601E (n = 4), NRAS (n = 11), HRAS (n = 4), KRAS (n = 3), RET/PTC1 rearrangement (n = 1), TERT promoter (n = 2), PAX8-PPARγ rearrangement (n = 1), and 45 cases where no mutation was detected. Aggressive behavior was defined by extra-thyroidal extension (ETE), lymph node metastasis (LN+), and the following variants of papillary thyroid carcinoma: tall cell, solid, diffuse sclerosing, columnar cell and hobnail. Chi-squared testing was performed to compare groups.

RESULTS

The group with BRAF V600E, RET/PTC1 rearrangement, and TERT promoter mutations was associated with ETE 37.1%, and LN+ 45.7% of the time compared to 4.3 and 13.0% in the group with other mutations, and 4.4 and 4.4% in the group with no mutations (p-value 0.02, p-value < 0.001, p-value 0.006). In addition, the BRAF V600E, RET/PTC1 rearrangement, and TERT mutations group demonstrated tall cell variants (17.1%), columnar cell variants (5.7%), and hobnail variants (3%). The other mutations group demonstrated columnar cell variants (4.3%), and the no mutations group demonstrated solid variants (2.2%).

CONCLUSIONS

In this study, BRAF V600E, RET/PTC1 rearrangement, and TERT mutations were associated with aggressive behaving thyroid malignancies as defined above. Molecular testing may be a useful method to anticipate aggressive tumour types and therefore assist in planning the extent and timing of surgery.

Authors+Show Affiliations

Faculty of Science, McGill University, 853 Sherbrooke Street West, Montreal, QC, Canada. josh.krasner@mail.mcgill.ca.Department of Otolaryngology Head and Neck Surgery, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, QC, Canada.Department of Pathology, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, QC, Canada.Department of Otolaryngology Head and Neck Surgery, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, QC, Canada.Department of Otolaryngology Head and Neck Surgery, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, QC, Canada.Department of Otolaryngology Head and Neck Surgery, Technion, Faculty of Medicine, Hillel-Yaffe Medical Center, Hadera, Israel.Department of Otolaryngology Head and Neck Surgery, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, QC, Canada.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31623671

Citation

Krasner, Joshua R., et al. "Molecular Mutations as a Possible Factor for Determining Extent of Thyroid Surgery." Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, vol. 48, no. 1, 2019, p. 51.
Krasner JR, Alyouha N, Pusztaszeri M, et al. Molecular mutations as a possible factor for determining extent of thyroid surgery. J Otolaryngol Head Neck Surg. 2019;48(1):51.
Krasner, J. R., Alyouha, N., Pusztaszeri, M., Forest, V. I., Hier, M. P., Avior, G., & Payne, R. J. (2019). Molecular mutations as a possible factor for determining extent of thyroid surgery. Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 48(1), p. 51. doi:10.1186/s40463-019-0372-5.
Krasner JR, et al. Molecular Mutations as a Possible Factor for Determining Extent of Thyroid Surgery. J Otolaryngol Head Neck Surg. 2019 Oct 17;48(1):51. PubMed PMID: 31623671.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular mutations as a possible factor for determining extent of thyroid surgery. AU - Krasner,Joshua R, AU - Alyouha,Nourah, AU - Pusztaszeri,Marc, AU - Forest,Veronique-Isabelle, AU - Hier,Michael P, AU - Avior,Galit, AU - Payne,Richard J, Y1 - 2019/10/17/ PY - 2019/04/09/received PY - 2019/09/09/accepted PY - 2019/10/19/entrez PY - 2019/10/19/pubmed PY - 2019/10/19/medline KW - BRAF V600E KW - Extent of surgery KW - Molecular testing KW - RAS KW - TERT KW - Thyroid cancer SP - 51 EP - 51 JF - Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale JO - J Otolaryngol Head Neck Surg VL - 48 IS - 1 N2 - BACKGROUND: Molecular testing of thyroid nodules is a diagnostic tool used to better understand the nature of thyroid nodules. The aim of this study is to better comprehend the relationship between specific mutations and aggressive behavior of the tumour as demonstrated on postoperative pathological analysis. METHODS: A retrospective chart review of 103 cases was performed. Included were patients who had undergone molecular testing using a panel that tests for 9 mutations (ThyGenX®) and were found to have malignant tumours. The following gene alterations were found pre-operatively in the nodules: BRAF V600E (n = 32), BRAF K601E (n = 4), NRAS (n = 11), HRAS (n = 4), KRAS (n = 3), RET/PTC1 rearrangement (n = 1), TERT promoter (n = 2), PAX8-PPARγ rearrangement (n = 1), and 45 cases where no mutation was detected. Aggressive behavior was defined by extra-thyroidal extension (ETE), lymph node metastasis (LN+), and the following variants of papillary thyroid carcinoma: tall cell, solid, diffuse sclerosing, columnar cell and hobnail. Chi-squared testing was performed to compare groups. RESULTS: The group with BRAF V600E, RET/PTC1 rearrangement, and TERT promoter mutations was associated with ETE 37.1%, and LN+ 45.7% of the time compared to 4.3 and 13.0% in the group with other mutations, and 4.4 and 4.4% in the group with no mutations (p-value 0.02, p-value < 0.001, p-value 0.006). In addition, the BRAF V600E, RET/PTC1 rearrangement, and TERT mutations group demonstrated tall cell variants (17.1%), columnar cell variants (5.7%), and hobnail variants (3%). The other mutations group demonstrated columnar cell variants (4.3%), and the no mutations group demonstrated solid variants (2.2%). CONCLUSIONS: In this study, BRAF V600E, RET/PTC1 rearrangement, and TERT mutations were associated with aggressive behaving thyroid malignancies as defined above. Molecular testing may be a useful method to anticipate aggressive tumour types and therefore assist in planning the extent and timing of surgery. SN - 1916-0216 UR - https://www.unboundmedicine.com/medline/citation/31623671/Molecular_mutations_as_a_possible_factor_for_determining_extent_of_thyroid_surgery L2 - https://journalotohns.biomedcentral.com/articles/10.1186/s40463-019-0372-5 DB - PRIME DP - Unbound Medicine ER -