Search of the p.M918T Mutation in the RET Oncogene in Mexican Adult Patients with Medullary Thyroid Carcinoma

Ruiz‐García, Erika; Vidal-Millán, Silvia; López-Yañez, Alicia; Torres, José Antonio Posada; Guadarrama-Orozco, Jorge Alberto; Lino-Silva, Leonardo S.; Meneses-García, Abelardo; Vega, Horacio Astudillo‐de la; García, Martín Granados

doi:10.1055/s-0042-121661

Cited by 3 publications

(2 citation statements)

References 38 publications

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“…Mutations in RAS genes occur in 30–45% of follicular thyroid cancer, 30–45% of follicular-variant papillary thyroid cancer, and 20–40% of poorly differentiated thyroid cancer and are also worth investigation among Hispanics [ 50 ]. Meanwhile, RET proto-oncogene is found in medullary thyroid carcinoma, and while a small-case analysis of medullary thyroid carcinoma among Mexicans has been performed, larger studies could be conducted to evaluate any possible connection between any particularly Hispanic subgroups and medullary thyroid cancer/multiple endocrine neoplasia type 2 [ 51 , 52 ].…”

Section: Discussionmentioning

confidence: 99%

Characterization of Thyroid Cancer among Hispanics in California, USA, from 2010 to 2020

Hsu,

Tsai,

Benjamin

et al. 2024

Cancers

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Background: Previous studies on Hispanic thyroid cancer cases show sex disparities and an increased prevalence of large tumor sizes and nodal involvement. Here, we characterized Hispanic thyroid cancer cases in California. Methods: We identified thyroid cancer cases from 2010 to 2020 using the California Cancer Registry by sex, race/ethnicity, histology, TNM stage, tumor size, lymph node involvement, and Charlson comorbidity score. The age-adjusted incidence rate (AAIR) and age-adjusted mortality rate (AAMR) for all causes of death were calculated. A Cox proportional hazards regression analysis was performed to evaluate the mortality risk from all causes of death by race. Results: Overall, 56,838 thyroid cancer cases were identified, including 29.75% in Hispanics. Hispanics had the highest female-to-male incidence rate ratio (IRR 3.54) and the highest prevalence of T3/T4 tumor size (28.71%), the highest N1 nodal status (32.69%), and the highest AAMR (0.79 per 100,000 people). After adjusting for demographic and tumor covariates, compared to non-Hispanic White people, Hispanic ethnicity, with an HR of 1.22 (95% CI 1.18–1.25, p < 0.0001), remained a significant independent contributor to mortality risk. Conclusions: Hispanics had the greatest female-to-male IRR ratio, a greater prevalence of advanced disease features at diagnosis, along with the highest AAMR and increased mortality risk despite adjustments for demographic and tumor covariates. Further investigation into other risk factors is needed.

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Section: Discussionmentioning

confidence: 99%

Characterization of Thyroid Cancer among Hispanics in California, USA, from 2010 to 2020

Hsu,

Tsai,

Benjamin

et al. 2024

Cancers

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“…Germline mutations in the RET proto‐oncogene, which encodes a receptor tyrosine kinase, are associated with multiple endocrine neoplasia type 2 (MEN 2), which includes MTC. The RET M918T mutation is the most common somatic RET mutation associated with non‐hereditary MTC . Cabozantinib and vandetanib are currently approved by the Food and Drug Administration in the United States and internationally.…”

Section: Discussionmentioning

confidence: 99%

Thyroid carcinoma metastasizing to the submandibular gland: Sonographic findings

Golant

Vélez-Pérez

Krishnamurthy

et al. 2020

J of Clinical Ultrasound

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Metastases to the submandibular gland are extremely rare; a literature search retuned only three previously reported cases from a thyroid gland primary site.Herein, we report two cases of metastatic thyroid carcinoma to the submandibular gland in a 64-year-old woman with PTC and a 70-year-old-woman with medullary thyroid carcinoma (MTC). The metastases were identified on CT and PET/CT in one case and on CT in the other case, but both were diagnosed with ultrasound-guided fine-needle aspiration. Our cases highlight that while rare, both PTC and MTC can metastasize to the submandibular gland. K E Y W O R D S medullary thyroid carcinoma, papillary thyroid carcinoma, submandibular gland, metastases, ultrasound

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Genomic and Transcriptomic Landscape of RET Wild-Type Medullary Thyroid Cancer and Potential Use of Mitogen-Activated Protein Kinase-Targeted Therapy

Darabi,

Adeyelu,

Elliott

et al. 2024

Journal of the American College of Surgeons

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Background: About 75% of medullary thyroid cancers (MTCs) are sporadic with 45-70% being driven by a RET mutation. Selpercatinib is an approved treatment for RET-mutated (mutRET) MTC, however, treatments are needed for wild-type RET MTC (wtRET). Genomic alterations and transcriptomic signatures of wtRET MTC may reveal new therapeutic insights. Methods: We did a retrospective analysis of MTC samples submitted for DNA/RNA sequencing and PD-L1 expression using IHC at a CLIA/CAP-certified lab. Tumor microenvironment immune cell fractions were estimated using RNA deconvolution (quanTIseq). Transcriptomic signatures of inflammation and MAP kinase pathway activation scores (MPAS) were calculated. Mann-Whitney U, chi-square, and Fisher exact tests were applied (p-values adjusted for multiple comparisons). Results: The 160-patient cohort included 108 mutRET and 52 wtRET MTC samples. wtRET tumors frequently harbored MAPK pathway mutations, including HRAS (42.31%), KRAS (15.7%), NF1 (6.7%), and BRAF (2%) whereas only one MAPK pathway mutation (NF1) was identified among mutRET MTC. Recurrent mutations seen in wtRET MTC included MGA, VHL, APC, STK11, and NFE2L2. Increased transcriptional activation of the MAPK pathway was observed in wtRET patients harboring mutations in MAPK genes. While the frequency of PD-L1 expression was similar in wtRET and mutRET (10.2% vs 7.0%, p=0.531), wtRET tumors were more often TMB-high (7.7% vs 0.0%, p=0.011), and wtRET MTC exhibited higher expression of immune checkpoint genes. Conclusions: We identified molecular alterations and immune-related features that distinguish wtRET from mutRET MTC. While RET mutation drives MTC in the absence of other alterations, we showed that wtRET MTC frequently harbors MAPK pathway mutations. These findings may indicate a potential basis for MAPK-targeted therapy, possibly in combination with oncology immune-oncology agents for selected patients with wtRET MTC.

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Search of the p.M918T Mutation in the RET Oncogene in Mexican Adult Patients with Medullary Thyroid Carcinoma

Cited by 3 publications

References 38 publications

Characterization of Thyroid Cancer among Hispanics in California, USA, from 2010 to 2020

Characterization of Thyroid Cancer among Hispanics in California, USA, from 2010 to 2020

Thyroid carcinoma metastasizing to the submandibular gland: Sonographic findings

Genomic and Transcriptomic Landscape of RET Wild-Type Medullary Thyroid Cancer and Potential Use of Mitogen-Activated Protein Kinase-Targeted Therapy

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