scholarly journals Preoperative RAS Mutational Analysis Is of Great Value in Predicting Follicular Variant of Papillary Thyroid Carcinoma

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Tae Sook Hwang ◽  
Wook Youn Kim ◽  
Hye Seung Han ◽  
So Dug Lim ◽  
Wan-Seop Kim ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodules ◽  
Mutational Analysis ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Follicular Variant ◽  
Ras Mutation ◽  
Ras Mutations ◽  
Codon 61

Follicular variant of papillary thyroid carcinoma (FVPTC), particularly the encapsulated subtype, often causes a diagnostic dilemma. We reconfirmed the molecular profiles in a large number of FVPTCs and investigated the efficacy of the preoperative mutational analysis in indeterminate thyroid nodules. BRAF V600E/K601E and RAS mutational analysis was performed on 187 FVPTCs. Of these, 132 (70.6%) had a point mutation in one of the BRAF V600E (n=57), BRAF K601E (n=11), or RAS (n=64) genes. All mutations were mutually exclusive. The most common RAS mutations were at NRAS codon 61. FNA aspirates from 564 indeterminate nodules were prospectively tested for BRAF and RAS mutation and the surgical outcome was correlated with the mutational status. Fifty-seven and 47 cases were positive for BRAF and RAS mutation, respectively. Twenty-seven RAS-positive patients underwent surgery and all except one patient had FVPTC. The PPV and accuracy of RAS mutational analysis for predicting FVPTC were 96% and 84%, respectively. BRAF or RAS mutations were present in more than two-thirds of FVPTCs and these were mutually exclusive. BRAF mutational analysis followed by N, H, and KRAS codon 61 mutational analysis in indeterminate thyroid nodules would streamline the management of patients with malignancies, mostly FVPTC.

RAS mutations in indeterminate thyroid nodules are predictive of the follicular variant of papillary thyroid carcinoma

2014 ◽  
Vol 82 (5) ◽  
pp. 760-766 ◽  
Author(s):  
Jee Hyun An ◽  
Kee-Ho Song ◽  
Suk Kyeong Kim ◽  
Kyoung Sik Park ◽  
Young Bum Yoo ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodules ◽  
Papillary Thyroid ◽  
Follicular Variant ◽  
Ras Mutations

scholarly journals Diffuse Follicular Variant of Papillary Thyroid Carcinoma: A Case Report with a Revision of Literature

Rare Tumors ◽  
2016 ◽  
Vol 8 (4) ◽  
pp. 159-161 ◽  
Author(s):  
Gian Luca Rampioni Vinciguerra ◽  
Niccolò Noccioli ◽  
Armando Bartolazzi
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Young Women ◽  
Unusual Case ◽  
Thyroid Nodules ◽  
Papillary Thyroid ◽  
Follicular Variant ◽  
Few Data ◽  
Thyroid Parenchyma ◽  
Nuclear Features

The diffuse follicular variant of papillary thyroid carcinoma (DFV-PTC) is a rare malignant thyroid condition. It represents an uncommon variant of papillary carcinoma characterized by a diffuse involvement of thyroid parenchyma, follicular architecture and nuclear features of PTC in absence of a surrounding capsule. Up to date few data have been collected about this entity and, at the best of our knowledge, only 24 cases have been reported in the literature. According to these reports DFV-PTC seems to occur preferentially in young women and shows more aggressive behavior than other papillary thyroid tumors. Herein we present an unusual case of DFV-PTC occurring in an 83 years old woman, involving the entire thyroid gland, without distinct or prevalent thyroid nodules. The tumor was clinically misdiagnosed as obstructive goiter.

scholarly journals Hyperfunctioning Papillary Thyroid Carcinoma with a BRAF Mutation: The First Case Report and a Literature Review

2021 ◽  
pp. 1-6
Author(s):  
Shinsuke Shinkai ◽  
Kenji Ohba ◽  
Kennichi Kakudo ◽  
Takayuki Iwaki ◽  
Yoshihiro Mimura ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Reference Range ◽  
Mutational Analysis ◽  
Thyroid Tissue ◽  
Braf V600e ◽  
Histopathological Diagnosis ◽  
Thyroid Function Tests ◽  
Papillary Thyroid ◽  
First Case

Introduction: Hyperfunctioning papillary thyroid carcinoma (PTC) is rare and consequently, little information on its molecular etiology is available. Although BRAF V600E (BRAF c.1799T>A, p.V600E) is a prominent oncogene in PTC, its mutation has not yet been reported in hyperfunctioning PTC. Case Presentation: Ultrasonography detected a 26-mm nodule in the right lobe of the thyroid gland of a 48-year-old man. Thyroid function tests indicated that he was hyperthyroid with a TSH level of 0.01 mIU/L (reference range: 0.05–5.00) and a free thyroxine level of 23.2 pmol/L (reference range: 11.6–21.9). TSHR autoantibodies were <0.8 IU/L (reference value: <2.0 IU/L). The 99mTc thyroid scintigram revealed a round, right-sided focus of tracer uptake by the nodule with a decreased uptake in the remainder of the gland. The patient underwent total thyroidectomy because fine-needle aspiration cytology revealed a malignancy. The histopathological diagnosis was conventional PTC. Subsequent mutational analysis of BRAF (exon 15), TSHR (exons 1–10), GNAS (exons 7–10), EZH1 (exon 16), KRAS, NRAS, HRAS (codons 12, 13, and 61), and TERT promoter (C250T and C228T) identified a heterozygous point mutation in BRAF V600E in a tumor tissue sample. In addition, we identified a TSHR D727E polymorphism (TSHR c.2181C>G, p.D727E) in both the tumor and the surrounding normal thyroid tissue. Discussion and Conclusions: We report a case of hyperfunctioning PTC with a BRAF V600E mutation for the first time. Our literature search yielded 16 cases of hyperfunctioning thyroid carcinoma in which a mutational analysis was conducted. We identified TSHR mutations in 13 of these cases. One case revealed a combination of TSHR and KRAS mutations; the other case revealed a TSHR mutation with a PAX8/PPARG rearrangement. These findings suggest that the concomitant activation of oncogenes (in addition to constitutive activation of the TSHR-cyclic AMP cascade) are associated with the malignant phenotype in hyperfunctioning thyroid nodules.

How Does Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Compare to Encapsulated and Nonencapsulated Follicular Variants of Papillary Thyroid Carcinoma? An Examination Into Next-Generation Sequencing Molecular Profiles

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S50-S51
Author(s):  
Antonio Serrano ◽  
Wei Sun ◽  
Cheng Liu ◽  
Aylin Simsir ◽  
Joan Cangiarella ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Braf V600e ◽  
Thyroid Neoplasm ◽  
Papillary Thyroid ◽  
Next Generation ◽  
Ras Mutations ◽  
Generation Sequencing ◽  
Nuclear Features

Abstract Objectives With the removal of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) from the follicular variant of papillary thyroid carcinoma (FVPTC) categorization, the question arises as to how the molecular profile of invasive encapsulated FVPTC (IEFVPTC) compares with NIFTP. Our study aimed to examine the molecular alterations associated with NIFTP, IEFVPTC, and infiltrative FVPTC (iFVPTC) to determine whether these entities are actually distinct at the molecular level. Methods Forty-five NIFTP cases, 12 IEFVPTC cases, and 8 iFVPTC cases from 1/2013 to 8/2016 were assessed for presurgical fine-needle aspiration ThyroSeq V2 next-generation sequencing results. Results The NIFTP cases displayed alterations in BRAF K601E/EIF1AX, BRAF T599_R603, NRAS x15 (two with additional PTEN and one with P53), KRAS x3, HRAS x11 (one with an additional TERT/EIF1AX), PAX8-PPARgamma x5, PTEN, THADA x3, MET x2, copy number alteration, EF1AX, and DICER1. The IEFVPTC displayed alterations in RAS x5 (1 NRAS/TERT, 2 HRAS, 2 NRAS), BRAF-K601E x2, and BRAF-pG469A with gene expression profile; PAX8-PPARgamma x2; THADA-IGF2BP3; and ETV6/NTRK3. The iFVPTC cases displayed alterations in RAS x2 (NRAS and HRAS), TERT x2, BRAF-V600E mutation, ALK, MET, and NTRK3. Conclusion NIFTP and IEFVPTC cases most commonly displayed RAS mutations (64.4% and 41.7%, respectively) and lacked aggressive BRAF-V600E mutations, whereas iFVPTC harbored aggressive mutations such as BRAF-V600E and TERT more commonly, with fewer RAS mutations. The possibility of NIFTP and IEFVPTC being on a premalignant to malignant continuum must be raised and these entities may be more similar to each other than to other entities such as iFVPTC.

Sign in / Sign up

Export Citation Format

Share Document