scholarly journals Next generation sequencing based detection of 15 target genes mutations in papillary thyroid carcinoma

2020 ◽  
Vol 9 (2) ◽  
pp. 90-93
Author(s):  
Zhuo Wang ◽  
Changwen Jing ◽  
Haixia Cao ◽  
SiWen Liu ◽  
Jianzhong Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Target Genes ◽  
Papillary Thyroid ◽  
Next Generation ◽  
Generation Sequencing

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.

Molecular Profiling in Thyroid cancer- Using next generation sequencing to differentiate rare cases of papillary thyroid hyperplasia from papillary thyroid carcinoma

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S139-S140
Author(s):  
A Lazim ◽  
S Luceno ◽  
A Arriola ◽  
A Seth ◽  
N Jhala
Keyword(s):  
Next Generation Sequencing ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Carcinoma ◽  
Molecular Testing ◽  
Papillary Thyroid ◽  
Next Generation ◽  
Nuclear Changes ◽  
Thyroid Hyperplasia ◽  
Generation Sequencing

Abstract Introduction/Objective Differentiating papillary thyroid hyperplasia from papillary thyroid carcinoma is made primarily on differences in key histologic and cytomorphologic features. These include architectural features such as invasion and nuclear changes such as chromatin pallor, nuclear grooves, and intranuclear pseudoinclusions. Distinguishing between these two diagnoses is not always straightforward in a minority of cases, as papillary thyroid hyperplasia nodules can be misinterpreted as papillary thyroid carcinoma and vice versa. This is because the nuclear changes can be subtle and be induced artificially by poor or inadequate formalin fixation. Immunostains such as cytokeratin 19 (CK19), galectin-3, and HBME1 may be used to distinguish between papillary thyroid hyperplastic nodules and papillary thyroid carcinoma; however, as immunostaining results are not always definitive, other more definitive ancillary tests are sometimes utilized such as molecular testing. Methods/Case Report Thyroid cases with indeterminate diagnoses (n=6) were obtained from the archives. Such cases included papillary thyroid hyperplasia and cases with descriptive diagnoses such as well-differentiated encapsulated and low-grade papillary carcinoma. Five cases of definitive papillary thyroid carcinoma and one case of follicular thyroid carcinoma (n=6) were used as a comparison group. Next generation sequencing (NGS) assays were performed using a custom SLIMamp targeted DNA solid tumor panel (Pillar Biosciences) and a targeted multi gene RNA fusion panel (Invitae). Results (if a Case Study enter NA) All of the definitive cases of papillary thyroid carcinoma showed characteristic mutations such as BRAF V600E as well as RNA fusions such as RET/PTC while all of the indeterminate cases did not show any detectable DNA mutations or RNA fusions, confirming their benign nature. A separate case that was signed out as non-invasive follicular thyroid neoplasm with papillary-like nuclear features showed an NRAS Q61R mutation and a novel ETV1-ERG fusion. Conclusion This study demonstrates the utility of molecular testing as an adjunct to histopathological evaluation in definitive diagnosis and differentiation of papillary thyroid hyperplasia from papillary carcinoma. Next generation sequencing with targeted DNA and RNA panels will be beneficial for both known and novel variant or fusion detection in suspect cases.

Breast Tumor Resembling the Tall Cell Variant of Papillary Thyroid Carcinoma: Molecular Characterization by Next-Generation Sequencing and Histopathological Comparison With Tall Cell Papillary Carcinoma of Thyroid

2018 ◽  
Vol 27 (2) ◽  
pp. 134-141 ◽  
Author(s):  
Elaine Zhong ◽  
Theresa Scognamiglio ◽  
Timothy D’Alfonso ◽  
Wei Song ◽  
Hung Tran ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Papillary Carcinoma ◽  
Breast Tumor ◽  
Papillary Thyroid ◽  
Tall Cell Variant ◽  
Tall Cell ◽  
Cell Variant ◽  
Generation Sequencing

Recent publications have brought attention to the histopathological, immunohistochemical, and molecular aspects of the rare breast tumor resembling the tall cell variant of papillary thyroid carcinoma (BrTC). Nine archived cases of this entity were retrieved, reviewed, and compared with randomly selected tall cell variants of papillary thyroid carcinoma (ThTC). Seven of the BrTC cases as well as 5 cases of solid papillary carcinoma of breast were analyzed by Oncomine next-generation sequencing. BrTC and ThTC were histologically distinguishable by the presence of solid architecture, luminal histiocytes, and reverse polarity in the former, and psammoma bodies, giant cells, and optically clear nuclei in the latter. Sequencing revealed IDH2 R172 single-nucleotide variants in all 7 BrTCs, 6 of which had concurrent PIK3CA mutations. None of the conventional solid papillary carcinomas demonstrated IDH2 mutation. BrTC bears superficial resemblance to other papillary tumors but is unique in terms of histology and molecular profile.

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