scholarly journals Correlations between Molecular Landscape and Sonographic Image of Different Variants of Papillary Thyroid Carcinoma

2019 ◽  
Vol 8 (11) ◽  
pp. 1916 ◽  
Author(s):  
Andrzej Lewiński ◽  
Zbigniew Adamczewski ◽  
Arkadiusz Zygmunt ◽  
Leszek Markuszewski ◽  
Małgorzata Karbownik-Lewińska ◽  
...  

Papillary thyroid carcinoma (PTC), the most common thyroid cancer, is predominantly driven by mutations in BRAF (primarily p. V600E) and RAS oncogenes. Ultrasound (US) examination provides significant diagnostic data in the management of thyroid nodules, as many sonographic features of thyroid lesions are correlated with the potential risk of thyroid carcinoma. The aim of the study was to analyze the current literature in regard to the potential associations between genetic landscape and sonographic features of PTC. Based on the current literature, sonographic features of PTCs correlate with their molecular drivers, particularly between tumors harboring BRAFV600E versus activating RAS mutations, although many of these findings appear to be dependent on the tumor variant. Suspicious US findings, such as hypoechogenicity, spiculated/microlobulated margins, non-parallel orientation/taller-than-wide shape, and the presence of microcalcifications, are typical for PTC positive for BRAFV600E mutations. On the contrary, tumors with RAS mutations are most frequently hypo- or isoechoic and ovoid-to-round in shape, with smooth margins and without calcifications. There are also some US features typical for PTCs harboring other mutations, including BRAFK601E, RET/PTC rearrangements, PAX8-PPARγ, CTNNB1, and APC. However, further research is necessary, as some rare PTC variants still cannot be reliably analyzed due to the scarce published data.

2017 ◽  
Vol 244 (2) ◽  
pp. 215-226 ◽  
Author(s):  
Jialong Liang ◽  
Wanshi Cai ◽  
Dongdong Feng ◽  
Huajing Teng ◽  
Fengbiao Mao ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Tae Sook Hwang ◽  
Wook Youn Kim ◽  
Hye Seung Han ◽  
So Dug Lim ◽  
Wan-Seop Kim ◽  
...  

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.


2001 ◽  
Vol 115 (11) ◽  
pp. 935-937 ◽  
Author(s):  
C. Hopkins ◽  
M. Stearns ◽  
A. F. Watkinson

Malignant tracheal stenosis presents a considerable challenge to the head and neck surgeon. The use of intraluminal stents has been previously described, but current literature notes a paucity of supportive physiological data. We describe the use of a self-expanding metallic Wallstent in the palliation of a case of papillary thyroid carcinoma. This is accompanied by significant improvement in quantitative pulmonary function.


2013 ◽  
Vol 24 (2) ◽  
pp. 69-76 ◽  
Author(s):  
Ji Young Park ◽  
Wook Youn Kim ◽  
Tae Sook Hwang ◽  
Sang Sook Lee ◽  
Hyunkyung Kim ◽  
...  

2014 ◽  
Vol 82 (5) ◽  
pp. 760-766 ◽  
Author(s):  
Jee Hyun An ◽  
Kee-Ho Song ◽  
Suk Kyeong Kim ◽  
Kyoung Sik Park ◽  
Young Bum Yoo ◽  
...  

2019 ◽  
Vol 8 (10) ◽  
pp. 1675 ◽  
Author(s):  
Peiling Tsou ◽  
Chang-Jiun Wu

Papillary thyroid carcinoma (PTC) is the most common subtype of thyroid cancers and informative biomarkers are critical for risk stratification and treatment guidance. About half of PTCs harbor BRAFV600E and 10%–15% have RAS mutations. In the current study, we trained a deep learning convolutional neural network (CNN) model (Google Inception v3) on histopathology images obtained from The Cancer Genome Atlas (TCGA) to classify PTCs into BRAFV600E or RAS mutations. We aimed to answer whether CNNs can predict driver gene mutations using images as the only input. The performance of our method is comparable to that of recent publications of other cancer types using TCGA tumor slides with area under the curve (AUC) of 0.878–0.951. Our model was tested on separate tissue samples from the same cohort. On the independent testing subset, the accuracy rate using the cutoff of truth rate 0.8 was 95.2% for BRAF and RAS mutation class prediction. Moreover, we showed that the image-based classification correlates well with mRNA-derived expression pattern (Spearman correlation, rho = 0.63, p = 0.002 on validation data and rho = 0.79, p = 2 × 10−5 on final testing data). The current study demonstrates the potential of deep learning approaches for histopathologically classifying cancer based on driver mutations. This information could be of value assisting clinical decisions involving PTCs.


2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S50-S51
Author(s):  
Antonio Serrano ◽  
Wei Sun ◽  
Cheng Liu ◽  
Aylin Simsir ◽  
Joan Cangiarella ◽  
...  

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.


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