Genomic profile of columnar cell variant of papillary thyroid carcinoma

Janovitz, Tyler; Williamson, Drew F. K.; Wong, Kristine; Dong, Fei; Barletta, Justine A.

doi:10.1111/his.14374

Cited by 14 publications

(3 citation statements)

References 38 publications

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“…In addition to BRAF p.K601E, we identified other non-V600E mutations not only in follicular-patterned tumors (two FV-PTC and three FTC) but also in three classical PTCs and in one CCV-PTC. Interestingly, a recent study reported that CCV-PTC appears to harbor a higher incidence of non-V600E variants [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

Leo

Şerban

Maloberti

et al. 2023

IJMS

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The BRAF p.V600E mutation represents the most specific marker for papillary thyroid carcinoma and is potentially related to aggressive behavior and persistent disease. BRAF alterations other than the p.V600E are less common in thyroid carcinoma and represent an alternative mechanism of BRAF activation with unclear clinical significance. The study aims to describe the frequency and clinicopathologic characteristics of BRAF non-V600E mutations in a large cohort (1654 samples) of thyroid lesions characterized by next-generation sequencing. BRAF mutations have been found in 20.3% (337/1654) of thyroid nodules, including classic (p.V600E) mutation in 19.2% (317/1654) of samples and non-V600E variants in 1.1% of cases (19/1654). BRAF non-V600E alterations include 5 cases harboring p.K601E, 2 harboring p.V600K substitutions, 2 with a p.K601G variant, and 10 cases with other BRAF non-V600E alterations. BRAF non-V600E mutations have been reported in one case of follicular adenoma, three cases of conventional papillary thyroid carcinoma, eight cases of follicular variant of papillary carcinomas, one case of columnar cell variant papillary thyroid carcinoma, one case of oncocytic follicular carcinoma, and two bone metastasis of follicular thyroid carcinoma. We confirm that BRAF non-V600E mutations are uncommon and typically found in indolent follicular-patterned tumors. Indeed, we show that BRAF non-V600E mutations can be found in tumors with metastatic potential. However, in both aggressive cases, the BRAF mutations were concomitant with other molecular alterations, such as TERT promoter mutation.

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Section: Discussionmentioning

confidence: 99%

Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

Leo

Şerban

Maloberti

et al. 2023

IJMS

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“…22 BRAF V600E mutation is morphologically associated primarily with classical PTC, tall cell variant PTC, and columnar cell variant PTC. 23,24 Numerous studies have associated the mutation with higher stage and poor prognosis, mostly in retrospective studies. [25][26][27][28][29] Even papillary thyroid microcarcinomas with BRAF V600E mutations show increased risk of tumor recurrence.…”

Section: Braf Mutationsmentioning

confidence: 99%

“…Copy number gains (amplifications) of the BRAF gene are associated with BRAF wildtype tumors and a RAS ‐like expression profile 22 . BRAF V600E mutation is morphologically associated primarily with classical PTC, tall cell variant PTC, and columnar cell variant PTC 23,24 . Numerous studies have associated the mutation with higher stage and poor prognosis, mostly in retrospective studies 25–29 .…”

Section: Common Genetic Alterationsmentioning

confidence: 99%

Molecular testing in fine‐needle aspiration of thyroid nodules

McMurtry

Canberk

Deftereos

2022

Diagnostic Cytopathology

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Background Thyroid nodules are commonly faced by clinicians as palpable nodules or incidentally identified on imaging. Nodules that are found to be suspicious by imaging can be biopsied by fine needle aspiration, which can yield material for molecular testing to refine the diagnosis. Methods The current literature concerning molecular testing in thyroid nodules including available commercial assays was reviewed and summarized. Results/Conclusions Commonly encountered alterations include mutations in RAS, BRAF, TERT promoter, PTEN, and DICER1 as well as fusions of RET, ALK, PAX8‐PPARγ, and NTRK. This article provides a summary of these molecular alterations, commercially available molecular assays, and general considerations for thyroid epithelial malignancies and benign thyroid nodules.

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Prognostic Models Using Machine Learning Algorithms and Treatment Outcomes of Papillary Thyroid Carcinoma Variants

Alshwayyat,

Kamal,

Ghammaz

et al. 2024

Cancer Reports

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BackgroundHürthle cell (HCC) and columnar cell variants (CCV) are rare subtypes of thyroid cancer.AimsThis study used machine learning (ML) to evaluate treatment effectiveness and develop prognostic models.MethodsChi‐square tests, Kaplan–Meier curves, log‐rank tests, and Cox regression were used. Five ML algorithms constructed prognostic models predicting 5‐year survival, validated using the AUC of the ROC curve.ResultsAmong 3690 patients, 3180 had CCV and 510 had HCC. ML models showed metastasis, surgery + RT, and age were significant factors for HCC, while the N component of TNM, metastasis, and tumor size were significant for CCV.ConclusionThis study offers a comprehensive approach for treating and assessing prognosis in PTC variants. The ML models developed offer practical tools for personalized clinical decision‐making.

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Genomic profile of columnar cell variant of papillary thyroid carcinoma

Cited by 14 publications

References 38 publications

Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

Molecular testing in fine‐needle aspiration of thyroid nodules

Prognostic Models Using Machine Learning Algorithms and Treatment Outcomes of Papillary Thyroid Carcinoma Variants

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