Papillary Thyroid Carcinoma With Rare Exon 15 BRAF Mutation Has Indolent Behavior: A Single-Institution Experience

Torregrossa, Liborio; Viola, David; Sensi, Elisa; Giordano, Mirella; Piaggi, Paolo; Romei, Cristina; Materazzi, Gabriele; Miccoli, Paolo; Elisei, Rossella; Basolo, Fulvio

doi:10.1210/jc.2016-1775

Cited by 45 publications

(38 citation statements)

References 36 publications

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“…This relatively rare BRAF mutation is considered RAS-like because of its prevalence in follicular neoplasms, association with indolent behavior in noninvasive tumors, and a mechanism of activation of the MAPK and PI3K signaling pathways distinct from that of BRAF V600E mutated tumors. 1,13,32,33 No case of NIFTP had the BRAF V600E mutation. No case of NIFTP recurred or metastasized, although 12 of 32 (37.5%) received postoperative radioactive iodine.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive Follicular Thyroid Neoplasms With Papillary-like Nuclear Features Are Genetically and Biologically Similar to Adenomatous Nodules and Distinct From Papillary Thyroid Carcinomas With Extensive Follicular Growth

Johnson¹,

Furtado²,

Long

et al. 2018

Archives of Pathology &Amp; Laboratory Medicine

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- The morphologic similarity and RAS mutations in FAs, NIFTPs, and IE-PTC-FVs supports the genetic similarity of those follicular neoplasms in contrast to the unique presence of BRAF V600E mutations in PTC-EFGs. Using strict diagnostic criteria supported by molecular testing, tumors with extensive follicular growth can be classified into follicular type or RAS-like (FA, NIFTP, IE-PTC-FV) versus papillary type or BRAF V600E-like (PTC-EFG).

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Section: Discussionmentioning

confidence: 99%

Noninvasive Follicular Thyroid Neoplasms With Papillary-like Nuclear Features Are Genetically and Biologically Similar to Adenomatous Nodules and Distinct From Papillary Thyroid Carcinomas With Extensive Follicular Growth

Johnson¹,

Furtado²,

Long

et al. 2018

Archives of Pathology &Amp; Laboratory Medicine

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“…These rare BRAF variant‐mutated tumours were generally found to exhibit indolent behaviour with predominantly small tumour size and low rates of ETE as well as lymph node metastases. However, a significant proportion of these tumours are histologically similar to the aggressive variants such as tall cell, columnar, hobnail and solid variants . Our patient with this rare BRAF mutation had a 3.5 cm tumour showing features of the columnar cell variant of PTC.…”

Section: Discussionmentioning

confidence: 61%

BRAF mutation in papillary thyroid cancer—Prevalence and clinical correlation in a South‐East Asian cohort

Goh

Lum

Yang

et al. 2018

Clinical Otolaryngology

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Objective: BRAF mutation is the commonest mutation seen in papillary thyroid cancer (PTC), but its prevalence and clinical significance vary across countries. We aim to evaluate the prevalence and clinico-pathological correlation of BRAF mutation in PTC patients at our centre.Study Design: Retrospective cohort study of 75 consecutive archival thyroid specimens, whereby BRAF mutation was detected using a polymerase chain reaction (PCR) technique and correlated with clinical and pathological features and outcomes.Setting: Tertiary university hospital in Singapore. Participants:A total of 75 consecutive histologically proven archival thyroid specimens from patients who underwent thyroidectomy for PTC were accrued for this study. Main outcome measures:Main outcome is to determine the prevalence of the BRAF mutation in our South-East Asian population. Secondary aim is to correlate the mutational status with adverse pathological features like histological variants, multi-focality, lymphovascular invasion and extra-thyroidal extension, clinical features like demographics, TNM stage, recurrence and survival, as well as treatment details like type of surgery performed and radioiodine doses.Results: BRAF mutation was detected in 56% (42/75) of PTC. All but one BRAFmutated PTC had the BRAFV600E mutation. BRAF-mutated tumours were associated with an advanced T-stage (P = 0.049) and were more likely to have a central neck dissection (P = 0.036). There was no significant correlation between BRAF mutation status and clinical outcomes. Conclusion:The prevalence of BRAF mutation is 56%. BRAF mutation-positive tumours were associated with locally advanced disease, but not poorer survival.Xueying Goh and Jeffery Lum contributed equally to this research.

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“…The mutations found in the adenomas that coexisted with the PTCs in the same thyroid gland were RAS-like BRAF mutations [4], typical of follicular-patterned lesions, and-not surprisingly-were different from those of the PTCs to which they were associated. Specifically, the BRAF p.K601E mutation has been reported in follicular adenoma [10], while BRAF p.V600K has been reported in encapsulated follicular variant PTC [11]. Both mutations confer a gain of function to the BRAF protein, resulting in increased kinase activity [12].…”

Section: Discussionmentioning

confidence: 99%

BRAF Exon 15 Mutations in Papillary Carcinoma and Adjacent Thyroid Parenchyma: A Search for the Early Molecular Events Associated with Tumor Development

Acquaviva

Biase

Diquigiovanni

et al. 2020

Cancers

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BRAF exon 15 mutations are the most common molecular alterations found in papillary thyroid carcinoma (PTC). To date, there is no information regarding BRAF alterations in the thyroid parenchyma surrounding the tumor. To explore the early events associated with the development of PTC, we used massively parallel sequencing to investigate BRAF exon 15 in 30 PTCs and in 100 samples from the thyroid parenchyma surrounding the tumor. BRAF p.V600E was identified in 19/30 PTCs (63.3%). BRAF p.V600E mutations were identified in the tissue adjacent the PTC only in samples containing psammoma bodies. The other samples were either BRAF wild type (WT) or carried BRAF non p.V600E mutations. Specifically, BRAF p.G593D, -p.A598T, -p.V600M, -p.R603Q, -p.S607F, and -p.S607P were identified in 4 of 36 (11.1%) samples with follicular cell atypia, in 2 of 16 (12.5%) with follicular cell hyperplasia, and in 1 of 33 (3.0%) histologically normal samples—Only in tissue surrounding BRAF p.V600E mutated PTCs. These mutations are predicted to affect protein function in silico but, in vitro, have kinase activity and BRAF phosphorylation levels similar to BRAF WT. No BRAF exon 15 mutations were identified in samples adjacent to PTCs that were BRAF WT. A mutagenic process affecting BRAF exon 15 occurs in a subset of thyroid glands that develop BRAF p.V600E mutated PTCs.

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Papillary Thyroid Carcinoma With Rare Exon 15 BRAF Mutation Has Indolent Behavior: A Single-Institution Experience

Abstract: r-BRAF are very uncommon in PTC and are found almost exclusively in PTC with low-risk clinicopathological features.

Cited by 45 publications

References 36 publications

Noninvasive Follicular Thyroid Neoplasms With Papillary-like Nuclear Features Are Genetically and Biologically Similar to Adenomatous Nodules and Distinct From Papillary Thyroid Carcinomas With Extensive Follicular Growth

Noninvasive Follicular Thyroid Neoplasms With Papillary-like Nuclear Features Are Genetically and Biologically Similar to Adenomatous Nodules and Distinct From Papillary Thyroid Carcinomas With Extensive Follicular Growth

BRAF mutation in papillary thyroid cancer—Prevalence and clinical correlation in a South‐East Asian cohort

BRAF Exon 15 Mutations in Papillary Carcinoma and Adjacent Thyroid Parenchyma: A Search for the Early Molecular Events Associated with Tumor Development

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