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Gene & Protein in Disease Utilization of genetic testing in guiding mPTC treatment

different genes [13,14] . They are characterized by the presence overtreatment and under treatment, we suggest that genetic
of protein-coding nucleotide sequences with a high testing should be performed for PTMC patients because
probability of helix-helix domain formation, thus allowing the test results can assist in deciding the appropriate
the constitutive dimerization of the RET-TK domain . treatments, such as surgery or AS.
[15]
This dimerization in microcarcinoma plays a driving role in
the tumoral transformation . Recent studies have shown Acknowledgments
[16]
that patients with such rearrangements have an 8-fold We thank Dr. Dong Liu (Guangzhou KingMed Diagnostics
increased risk of developing lymph node lesions compared Group Co., Ltd.) and his colleagues for the help with
with those patients without rearrangements . The result pathological diagnoses and guidance.
[17]
of our patient also supports this hypothesis. Genetic
testing of RET/PTC fusions in PTMC may influence the Funding
decision on the extent of thyroidectomy and lymph node This study is supported by Clinical key specialty
dissection , but this theory needs to supported by longer construction project funding of Guangdong Province
[18]
follow-up studies of higher quality. (Guangdong Health Medical Letter [2022] No. 39); the
With the emergence of gene chips and next-generation Key Laboratory of Guangdong Higher Education Institutes
sequencing technology, genetic testing will play an (2021KSYS009); National College Student Innovation and
important role and have an impact on clinical surgery Entrepreneurship Training Project (No.202310570015);
decisions in the management of PTMC. González et al. and Guangzhou Medical University Student Innovation
established a diagnostic model consisting of 10 genes. Ability Enhancement Program Project (Guangzhou
The diagnostic sensitivity and specificity of the model Medical University Letter [2022] No. 66).
for benign and malignant indeterminate nodules were
93% and 81%, respectively. The positive predictive value Conflict of interest
of the model was 78%, and the negative predictive value All authors have completed the ICMJE uniform disclosure
was 98%, as shown in a multi-center study . Three form. The authors have no conflicts of interest to declare.
[19]
molecular diagnostic tools, namely, Thygenx/Thyramir,
Positive GSC, and Thyroseq V3, have been successfully Author contributions
translated into clinical applications, demonstrating high Conceptualization: Song Wang
sensitivity and corresponding high negative predictive Investigation: Haitao Peng, Song Wang
values for Bethesda Categories III and IV indeterminate Methodology: Chong Wang, Yuanwei Luo
nodules [20-22] . Formal analysis: Zifeng Luo, Song Wang
In summary, with technological innovation, Writing – original draft: Chang Cai
individualized diagnosis and prognosis will be the Writing – review & editing: Haitao Peng
direction of basic research on PTMC. The patient is Ethics approval and consent to participate
currently on conventional treatment regimens, after the
genetic testing results on RET/PTC rearrangement were All procedures performed in studies involving human
known. LOXO-292 treatment would be an optimal option participants were in accordance with the ethical standards
if the disease progresses. An ongoing Phase I/II clinical of the institutional and/or national research committee(s)
trial demonstrated that LOXO-292, a highly selective RET and with the Helsinki Declaration (as revised in 2013).
inhibitor, has a strong antitumor activity in RET-fusion-
positive patients . Consent for publication
[23]
Written informed consent was obtained from the patient
4. Conclusion for publication of this case report and accompanying
The selection of the most appropriate treatment for PTMC images.
patients, after considering the trade-off between their Availability of data
benefits and risks, has become the focus of attention.
The obscure mechanism underlying the metastasis of Supporting data can be obtained from corresponding
thyroid carcinoma poses difficulty in diagnosis and author following formal request.
treatment development. Nevertheless, thyroid oncogene
microarray and next-generation sequencing technology References
have significantly improved the accuracy of the pre- 1. Bai Y, Kakudo K, Jung CK, 2020, Updates in the pathologic
operative diagnosis of thyroid cancer. Therefore, to avoid classification of thyroid neoplasms: A review of the world

Volume 2 Issue 3 (2023) 4 https://doi.org/10.36922/gpd.0371