Clinicopathologic features of thyroid neoplasm with THADA-IGF2BP3 fusion

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S53-S54
Author(s):  
C Skibiel ◽  
S Ren ◽  
L Reid
Keyword(s):  
Lymph Node ◽  
Thyroid Carcinoma ◽  
Lymph Nodes ◽  
Thyroid Nodules ◽  
Thyroid Neoplasms ◽  
Molecular Testing ◽  
Capsular Invasion ◽  
Clinicopathologic Features ◽  
Follicular Variant ◽  
Pathologic Diagnosis

Abstract Introduction/Objective Thyroid adenoma-associated (THADA)-IGF2BP3 fusions is related to strong overexpression of insulin-like growth factor 2 mRNA-binding protein 3 (IGF2BP3) mRNA and protein, increased IGF2 translation and IGF1 receptor signaling via PI3K and MAPK pathways. THADA-IGF2BP3 have been identified as an oncogenic event in thyroid neoplasms, but the clinicopathologic features have not been greatly evaluated. The purpose of this cases review is to describe the clinical and pathologic findings of thyroid nodules with THADA-IGF2BP3 fusion on molecular testing. Methods/Case Report Surgical Pathology 220 cases of total and hemithyroidectomy from January 2018 to December 2019 were reviewed for cytology fine needle aspiration (FNA), molecular testing results and surgical resection pathology. Results (if a Case Study enter NA) Three cases of THADA-IGF2BP3 fusion identified by Thyroseq testing from FNA of thyroid nodules with all diagnosed as atypia of undetermined significance, Bethesda category 3. No other mutations or gene fusions are identified. Successive surgical interventions are performed. Case 1 is a 49-year-old female right hemithyroidectomy with pathologic diagnosis of papillary thyroid carcinoma (PTC) follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, two lymph nodes evaluated are not involved by tumor and pathological stage is pT1b pN0. Case 2 is a 71-year-old female total thyroidectomy and the pathologic diagnosis is PTC follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, one lymph node evaluated is not involved by tumor and pathologic stage is pT1b pN0. Case 3 is a 76-year-old male left hemithyroidectomy and pathologic diagnosis is PTC follicular variant with tumor capsular invasion and no lymphvascular invasion. The tumor is 2cm, two lymph nodes evaluated are not involved by tumor and pathologic stage is pT1b pN0. Conclusion THADA-GF2BP3 fusion is uncommon in thyroid neoplasms and only three cases are detected in 220 cases evaluated. The three cases of thyroid nodules are all diagnosed as AUS by FNA, and all are diagnosed as PTC follicular variant with capsular invasion upon resection without lymphvascular invasion or lymph node involvement. THADA-F2BP3 fusion is associated with thyroid carcinoma, with low-risk non-aggressive behavior, conservative surgery appears necessary and lobectomy is likely adequate.

scholarly journals NTRK3-rearranged thyroid carcinoma, clinical and pathologic features

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S50-S50
Author(s):  
C Skibiel ◽  
S Ren ◽  
L Reid
Keyword(s):  
Lymph Node ◽  
Thyroid Carcinoma ◽  
Lymph Nodes ◽  
Transmembrane Protein ◽  
Thyroid Neoplasm ◽  
Molecular Testing ◽  
Gene Fusions ◽  
Follicular Variant ◽  
Pathologic Stage ◽  
Pathologic Features

Abstract Introduction/Objective NTRK3 gene encodes a transmembrane protein receptor of the tropomyosin receptor kinase (Trk) family. Gene fusions involving NTRK3 result in a constitutive activation or overexpression of Trk receptor, potentially leading to oncogenesis. NTRK targeted therapies show a promising activity in varied cancer types with NTRK fusions. The aim of this case review is to describe the clinical and pathologic findings of thyroid neoplasm with NTRK3 gene fusions. Methods/Case Report The cytology fine needle aspiration (FNA), molecular testing results and pathology of surgical resections are reviewed in 220 cases of total and hemithyroidectomy from January 2018 to May 2021. Results (if a Case Study enter NA) Three cases with NTRK3 gene fusions are identified by Thyroseq or Afirma GSC from FNA of thyroid nodules with later surgical intervention. No other mutations or gene fusions were identified. Each case had total thyroidectomy. Case 1 is a 41-year-old female with FNA diagnosis of suspicious for papillary thyroid carcinoma (PTC) and ETV6/NTRK3 fusion found by Afirma GSC. Pathology diagnosis is PTC classic type, two tumor nodules 1.1cm and 1.0cm, lymphovascular invasion not identified, three lymph nodes not involved by tumor and pathologic stage pT1b(m) pN0. Case 2 is a 49-year-old female with FNA diagnosis of atypia of undetermined significance and ETV6/NTRK3 fusion detected by Thyroseq. Pathology diagnosis is infiltrative PTC follicular variant, 2.0cm, angioinvasion present, no lymph nodes submitted and pathologic stage pT1b(m) pNX. Case 3 is a 28-year-old female with FNA diagnosis of suspicious for follicular derived neoplasm and NTRK3/RBPMS fusion is detected by Afirma GSC. Pathology diagnosis is infiltrative PTC follicular variant, 1.5cm, 9 of 11 lymph nodes positive for metastatic carcinoma and pathologic stage pT1b pN1b. Conclusion Thyroid neoplasm with NTRK3-rearrangement is rare. Cases 1 and 2 with common ETV6-NTRK3 fusion show PTC classic type and infiltrative PTC follicular variant with angioinvasion. Case 3 with less common NTRK3/RBPMS fusion shows infiltrative PTC follicular variant and significant lymph node involvement. Our limited cases of NTRK3-rearranged thyroid carcinoma demonstrate infiltrative growth, diverse phenotypes, one case with angioinvasion and no lymph nodes submitted and one case with multiple lymph node metastasis. This suggests aggressive behavior of thyroid cancer with NTRK3 gene fusion and patients may benefit from targeted NTRK therapy.

scholarly journals Incidence and Clinical Significance of Delphian Lymph Node Metastasis in Unilateral Papillary Thyroid Carcinoma

2020 ◽  
Author(s):  
Wei Liu ◽  
Zhenglin Wang ◽  
Cong Wang ◽  
Zhilong Ai
Keyword(s):  
Lymph Node ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Lymph Nodes ◽  
Clinical Significance ◽  
Tumor Size ◽  
Frozen Section ◽  
Extrathyroidal Extension ◽  
Capsular Invasion ◽  
Papillary Thyroid

Abstract Background: Some studies have reported that Delphian lymph node (DLN) metastasis is associated with a poor prognosis of papillary thyroid carcinoma (PTC), but the number of the available studies is limited and the results are inconsistent. The aim of this investigation was to study the incidence and clinical significance of DLN metastasis in patients with unilateral PTC.Methods: This was a cross-sectional study from January 2016 to December 2019. The data were obtained from the department of general surgery in Shanghai Zhongshan Hospital affiliated to Fudan University. This study included 522 patients with unilateral PTC and had DLN harvested. The associations between DLN metastasis and the clinical characteristics of the patients, i.e. age, sex, tumor size, multifocality, capsular invasion, extrathyroidal extension, central lymph nodes (CLN) metastasis (excluding DLN), and lateral lymph nodes (LLN) metastasis was analyzed.Results: Among all the 522 patients, 133 (25.5%) patients had metastasized DLN lymph nodes. DLN metastasis was significantly associated with age (p = 0.047), male (p < 0.001), larger tumor size (p < 0.001), capsular invasion (p < 0.001), extrathyroidal extension (p = 0.004), tumor location in upper third (p = 0.003), other CLN metastasis (p < 0.001), number of positive CLN (excluding DLN) (p < 0.001), LLN metastasis (p = 0.036), number of positive LLN (p = 0.004) and number of DLN removed (p = 0.043). No association was found between DLN metastasis and multifocality, number of CLN removed and number of LLN removed.Conclusions: DLN metastasis is associated with some adverse prognostic markers of PTC. If the DLN is positive on intraoperative frozen section, careful dissection of CLN and careful evaluation of LLN are essential, and intensive follow-up should be warranted.

scholarly journals Carbon nanoparticle-guided intraoperative lymph node biopsy predicts the status of lymph nodes posterior to right recurrent laryngeal nerve in cN0 papillary thyroid carcinoma

Gland Surgery ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 1554-1563
Author(s):  
Yuwei Ling ◽  
Lina Zhang ◽  
Kaifu Li ◽  
Ye Zhao ◽  
Jing Zhao ◽  
...  
Keyword(s):  
Lymph Node ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Lymph Nodes ◽  
Lymph Node Biopsy ◽  
Laryngeal Nerve ◽  
Papillary Thyroid ◽  
Carbon Nanoparticle ◽  
Node Biopsy ◽  
The Status

scholarly journals INCIDENTAL PULMONARY METASTASES REVEALING SUBCENTIMETER PAPILLARY THYROID CARCINOMA

2020 ◽  
Vol 6 (5) ◽  
pp. e273-e278
Author(s):  
Ruey Hu ◽  
George Xu ◽  
Thomas Stricker ◽  
Bingshan Li ◽  
Vivian L. Weiss ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Active Surveillance ◽  
Thyroid Nodules ◽  
Lung Metastases ◽  
Molecular Testing ◽  
American Thyroid Association ◽  
Cancer Genes ◽  
Papillary Thyroid

Objective: Here we present 2 cases of papillary thyroid microcarcinomas (PMCs) that had metastasized at presentation. The 2015 American Thyroid Association and the American College of Radiology Thyroid Imaging Reporting and Data System (TI-RADS) criteria do not recommend biopsy of the majority of subcentimeter thyroid nodules, as PMCs are mostly indolent with excellent prognosis. However, the paradigm of active surveillance presents a conundrum on how to identify the rare patient with distant metastatic disease while avoiding unnecessary intervention in the majority. Methods: After initial discovery of incidental lesions on chest computed tomography, core or wedge biopsies of the lung lesion were performed. Thyroid nodules on ultrasound were classified by TI-RADS. Tumor DNA was sequenced, annotated, filtered on 119 known cancer genes, and filtered for variants with an exome allele frequency of <0.001. Results: A 70-year-old woman and a 29-year-old woman presented with incidental pulmonary lesions on computed tomography scan. Lung biopsy revealed lung metastases from papillary thyroid carcinoma. The thyroid nodules in both patients were TI-RADS 3 and American Thyroid Association low-suspicion. Molecular testing showed a c.1721C>G mutation (p.Thr574Ser) in the TSHR gene in patient 1 and a codon 61 mutation in the NRAS gene in patient 2. Both patients were iodine-avid, with complete structural remission in one patient and ongoing treatment with evidence of structural response in the other. Conclusion: The 2 presentations demonstrate unexpected and concerning behavior of PMCs. Both thyroid tumors were subcentimeter in diameter, meaning they would have escaped detection using traditional risk-stratification algorithms in active surveillance. Further knowledge of tumor genetics and microenvironment may assist in predicting tumor behavior in PMCs.

scholarly journals Ablation therapy using a low dose of radioiodine may be sufficient in low- to intermediate-risk patients with follicular variant papillary thyroid carcinoma

2020 ◽  
Vol 48 (11) ◽  
pp. 030006052096649
Author(s):  
Fuxin Li ◽  
Wei Li ◽  
Katherine D. Gray ◽  
Rasa Zarnegar ◽  
Dan Wang ◽  
...  
Keyword(s):  
Lymph Node ◽  
Papillary Thyroid Carcinoma ◽  
Local Recurrence ◽  
Thyroid Carcinoma ◽  
Low Dose ◽  
High Dose ◽  
Intermediate Risk ◽  
Papillary Thyroid ◽  
Follicular Variant ◽  
Remnant Ablation

Objectives Follicular variant papillary thyroid carcinoma (FVPTC) is treated similarly to classical variant papillary thyroid carcinoma (cPTC). However, FVPTC has unique tumour features and behaviours. We investigated whether a low dose of radioiodine was as effective as a high dose for remnant ablation in patients with FVPTC and evaluated the recurrence of low-intermediate risk FVPTC. Methods Data from cPTC and FVPTC patients treated with I-131 from 2004 to 2014 were reviewed. Demographics, tumour behaviour, lymph node metastasis, and local recurrence data were compared between FVPTC and cPTC patients. Then, low-intermediate risk FVPTC patients were divided into low, intermediate, and high I-131 dose groups, and postoperative I-131 activities were analysed to evaluate the effectiveness of I-131 therapy for thyroid remnant ablation. Results In total, 799 cases of FVPTC (n = 168) and cPTC (n = 631) treated with I-131 were identified. Patients with FVPTC had a larger primary nodule size than cPTC, but lymph node metastases and local recurrence were more prevalent in cPTC than in FVPTC. For the low-, intermediate-, and high-dose groups, success rates of ablation did not differ (82.0%, 80%, and 81.3%, respectively). Conclusion FVPTC differs from cPTC in behaviour. Low-dose ablation may be sufficient in FVPTC patients with low-intermediate disease risk.

scholarly journals Papillary Thyroid Carcinoma With Cystic Changes in a Patient With Prior History of Toxic Nodule

2020 ◽  
Vol 8 ◽  
pp. 232470962094267
Author(s):  
Gliceida Maria Galarza Fortuna ◽  
Paola Rios ◽  
Ailyn Rivero ◽  
Gabriela Zuniga ◽  
Kathrin Dvir ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Nodule ◽  
Thyroid Nodules ◽  
Molecular Testing ◽  
Papillary Thyroid ◽  
Thyroid Lobectomy ◽  
Cystic Changes ◽  
History Of

Thyroid nodules are palpable on up to 7% of asymptomatic patients. Cancer is present in 8% to 16% of those patients with previously identified thyroid nodules. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer, accounting for approximately 85% of thyroid cancers. Although most appear as solid nodules on ultrasound imaging, a subset of 2.5% to 6% has cystic components. The presence of cystic changes within thyroid nodules decreases the accuracy of fine needle aspiration (FNA) in the diagnosis of thyroid cancer, given the difficulty of obtaining appropriate cellular content. This becomes a diagnostic and therapeutic challenge. We present a case of a 31-year-old female with a 1-month history of palpitations, fatigue, and night sweats, who underwent evaluation, and was diagnosed with subclinical hyperthyroidism. She presented 4 years later with compressive symptoms leading to repeat FNA, showing Bethesda III-atypia of undetermined significance and negative molecular testing. Thyroid lobectomy revealed PTC with cystic changes. This case is a reminder that patients with hyperfunctioning thyroid nodule should have closer follow-up. It poses the diagnostic dilemma of how much is good enough in the evaluation and management of a thyroid nodule. Early detection and action should be the standard of care.

A pathologic re-review of follicular thyroid neoplasms: The impact of changing the threshold for the diagnosis of the follicular variant of papillary thyroid carcinoma

Surgery ◽  
2008 ◽  
Vol 144 (1) ◽  
pp. 80-85 ◽  
Author(s):  
Sandy Widder ◽  
Kelly Guggisberg ◽  
Moosa Khalil ◽  
Janice L. Pasieka
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Thyroid Neoplasms ◽  
Papillary Thyroid ◽  
Follicular Variant ◽  
The Impact

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 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.

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