scholarly journals Systematic population-based identification of NTRK and RET fusion-positive thyroid cancers

2021 ◽  
Author(s):  
Markus Eszlinger ◽  
Paul Stewardson ◽  
John B. McIntyre ◽  
Adrian Box ◽  
Moosa Khalil ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Distant Metastases ◽  
Population Based ◽  
High Rate ◽  
American Thyroid Association ◽  
Intermediate Risk ◽  
Early Screening ◽  
Braf Mutations ◽  
Thyroid Cancers ◽  
Risk Of Recurrence

Objective: The aim of the study was to identify patients with NTRK fusion-positive or RET fusion/mutation-positive thyroid cancers, who could benefit from TRK or RET inhibitors. Methods: Patients were identified in the Calgary prospective thyroid cancer database (N=482). Patients were “pre-screened” with clinically available MassARRAY® BRAF Test, Colon Panel, Melanoma Panel, or ThyroSPEC™. Mutation-negative tumors were “screened” for NTRK fusions and RET fusions/mutations with the Oncomine™ Comprehensive Assay v3 (OCAv3). Results: A total of 86 patients were included in one of two separate analyses. Analysis A included 42 patients with radioactive iodine (RAI)-resistant distant metastases. After pre-screening, 20 BRAF and RAS mutation-negative patients underwent OCAv3 screening, resulting in the detection of four patients with NTRK fusions and four patients with RET fusions (8/20, 40% of analyzed patients). Analysis B included 44 patients, 42 with American Thyroid Association (ATA) high and intermediate risk of recurrence and two with medullary thyroid carcinoma. During pre-screening one patient with an NTRK fusion, one patient with a RET fusion and 30 patients with BRAF mutations were identified. The remaining nine patients received OCAv3 screening, resulting in detection of one patient with an NTRK fusion and one with a RET fusion (4/11, 36% of analyzed patients). Conclusions: Our findings indicate a high rate of NTRK fusions and RET fusions in patients with thyroid cancer with RAI-resistant distant metastases, ATA high/intermediate risk of recurrence. This highlights the importance of early screening, to enable intervention with a TRK or RET inhibitor.

scholarly journals Possible delayed diagnosis and treatment of metastatic differentiated thyroid cancer by adopting the 2015 ATA guidelines

2018 ◽  
Vol 179 (3) ◽  
pp. 143-151 ◽  
Author(s):  
Domenico Albano ◽  
Francesco Bertagna ◽  
Mattia Bonacina ◽  
Rexhep Durmo ◽  
Elisabetta Cerudelli ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
High Risk ◽  
Differentiated Thyroid Cancer ◽  
Delayed Diagnosis ◽  
Distant Metastases ◽  
Total Activity ◽  
Whole Body ◽  
American Thyroid Association ◽  
Intermediate Risk ◽  
Before And After

ObjectiveAccording to the 2015 American Thyroid Association (ATA) guidelines, thyroid ablation by iodine-131 (I-131) therapy is absolutely recommended only in patients with high-risk differentiated thyroid cancer (DTC). Often distant metastases are not recognized early and they can stay silent for long time. The aim of our study was to retrospectively analyze the prevalence of metastatic disease before and after I-131 and to evaluate the influence of the new ATA guidelines in the management of DTC.MethodsWe retrospectively analyzed 140 patients showing distant metastases. All metastases were detected by whole-body scan after I-131 and confirmed by histology and/or other imaging modalities.ResultsIn 26/140 patients metastases were detected before I-131, while in 114/140 were discovered after I-131. Comparing patients with metastases detected before and after I-131, no differences were demonstrated considering age, sex, histotype, tumor size, multifocality of cancer and metastatic localization. Metastatic DTC discovered before radioiodine had higher thyroglobulin and received a higher radioiodine total activity and number of treatments. Considering patients with distant metastases, according to the 2015 ATA guidelines, 38 patients would have been categorized as high risk, 22 as low risk and 80 as intermediate risk. Among intermediate-risk patients, only in 25 cases (31%) I-131 treatment would have been appropriate according to 2015 ATA recommendations; in the remaining 56 cases (69%), I-131 would not have been recommended.ConclusionsAccording to the 2015 ATA guidelines, most of metastatic patients would not have been treated after surgery, with the risk of late diagnosis and delayed treatment.

scholarly journals Ablation rate after radioactive iodine therapy in patients with differentiated thyroid cancer at intermediate or high risk of recurrence: a systematic review and a meta-analysis

2021 ◽  
Author(s):  
Michele Klain ◽  
Carmela Nappi ◽  
Emilia Zampella ◽  
Valeria Cantoni ◽  
Roberta Green ◽  
...  
Keyword(s):  
Systematic Review ◽  
Thyroid Cancer ◽  
High Risk ◽  
Differentiated Thyroid Cancer ◽  
Meta Analysis ◽  
Ablation Rate ◽  
Intermediate Risk ◽  
Risk Of Recurrence ◽  
Successful Ablation ◽  
Risk Patients

Abstract Purpose We performed a systematic review and a meta-analysis to investigate the successful ablation rate after radioiodine (RAI) administration in patients with differentiated thyroid cancer (DTC) at intermediate-high risk of recurrence. Methods A comprehensive literature search of the PubMed, Scopus, and Web of Science databases was conducted according to the PRISMA statement. Results The final analysis included 9 studies accounting for 3103 patients at intermediate-high risk of recurrence. In these patients, the successful ablation rates ranged from 51 to 94% with a 71% pooled successful ablation and were higher in intermediate (72%) than in high (52%)-risk patients. Despite the rigorous inclusion standards, a significant heterogeneity among the evaluated studies was observed. Higher administered RAI activities are associated with a lower successful ablation rate in the whole population and in the subgroup of high-risk patients. Furthermore, pooled recurrence rate in intermediate-risk patients achieving successful ablation was only 2% during the subsequent 6.4-year follow-up while the pooled recurrence rate was 14% in patients who did not achieve a successful ablation. Conclusion In a large sample of 3103 patients at intermediate-high risk of persistent/recurrent disease, 71% of patients achieved a successful ablation. In these intermediate-risk patients, the probability of subsequent recurrence is low and most recurrence occurred in those with already abnormal findings at the first control.

Role of Age at Diagnosis in Defining Potential Familial Nonmedullary Thyroid Cancer in Kindreds With Two Affected Members

2020 ◽  
Author(s):  
Marco Capezzone ◽  
Alfonso Sagnella ◽  
Tania Pilli ◽  
Fabio Maino ◽  
Raffaella Forleo ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Familial Cancer ◽  
Distant Metastases ◽  
Age At Diagnosis ◽  
American Thyroid Association ◽  
First Degree Relatives ◽  
Affected Relative ◽  
Group 2 ◽  
Definition Of

Abstract Context The definition of familial nonmedullary thyroid cancer (FNMTC) in 2 or more first-degree relatives is controversial due to the high probability of observing a sporadic association when only 2 members of first-degree relatives are affected. Objective To evaluate the role of age at diagnosis in differentiating the true cases of FNMTC. Design, Setting, Participants, and Main Outcome From a group of 721 papillary thyroid cancer (PTC) patients, 95 familial PTC (FPTC) patients with 2 first-degree relatives have been identified. They were split in 2 groups: Group 1 consisted of both the proband and the affected relative, with age at diagnosis ≤ 45 years; Group 2 consisted of proband and/or the affected family member, with age at diagnosis > 45 years. The clinical-pathological features and outcome of both FPTC groups were compared with 626 sporadic PTC patients (SPTC). Results Familial PTC patients with age at diagnosis ≤ 45 years, compared with the matched group of sporadic PTCs, had a more frequent multifocal, bilateral, and extrathyroidal extension of tumor and showed worse outcome. No differences were found between FPTC and SPTC patients with age > 45 years. At multivariate analysis, distant metastases, American Thyroid Association (ATA) risk, and FPTC ≤ 45 years were independent predictors of outcome. Conclusions Based on the observation that PTC is more aggressive when the diagnosis is made in 2 family members, both with age < 45years, we suggest that the definition of FPTC in kindreds with 2 affected members should also take into account the age at diagnosis as a key element of familial cancer.

scholarly journals A Case of Thyroid Papillary Carcinoma: Remarkable Decrease in Multiple Lung Metastases within 40 Years after a Single Administration of Radioiodine without Thyroidectomy and with Later Anaplastic Transformation

2017 ◽  
Vol 10 (3) ◽  
pp. 928-937 ◽  
Author(s):  
Chio Okuyama ◽  
Mitsuhiro Kimura ◽  
Minori Oda ◽  
Naohiro Kodani ◽  
Norihiro Aibe ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Total Thyroidectomy ◽  
Pulmonary Metastases ◽  
Lung Metastases ◽  
Distant Metastases ◽  
Anaplastic Thyroid Cancer ◽  
Anaplastic Carcinoma ◽  
High Rate ◽  
Childhood And Adolescence ◽  
Anaplastic Transformation

Differentiated thyroid carcinoma is an uncommon malignancy of childhood and adolescence that is unique because it has an overall favorable prognosis despite its relatively high rate of nodal and distant metastases. Total thyroidectomy and positive 131I therapy are recommended for cases with pulmonary metastases. In contrast, anaplastic thyroid cancer is one of the most aggressive malignancies that have an unfavorable and miserable prognosis. We report a case with an impressively long history. The patient had multiple pulmonary metastases that had been diagnosed by 131I administration when he was 14 years old, about 45 years before he underwent thyroidectomy. He had been kept unaware of his disease by his family and received no treatment for most of his life. Pulmonary nodules were noted at several medical checkups and showed a remarkable decrease in size during the untreated 44-year period after the 131I administration. At age 58, his thyroid cancer was first detected and total thyroidectomy was performed, with subsequent radioiodine therapy for pulmonary metastases. Unfortunately, anaplastic carcinoma developed and he died of disseminated tumors later.

scholarly journals Post-operative neck ultrasound and risk stratification in differentiated thyroid cancer patients with initial lymph node involvement

2014 ◽  
Vol 170 (6) ◽  
pp. 837-846 ◽  
Author(s):  
Charlotte Lepoutre-Lussey ◽  
Dina Maddah ◽  
Jean-Louis Golmard ◽  
Gilles Russ ◽  
Frédérique Tissier ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Risk Stratification ◽  
Predictive Value ◽  
Cumulative Incidence ◽  
Recurrence Risk ◽  
Lymph Node Involvement ◽  
American Thyroid Association ◽  
Intermediate Risk ◽  
Sensitivity Specificity

ObjectiveCervical ultrasound (US) scan is a key tool for detecting metastatic lymph nodes (N1) in patients with papillary thyroid cancer (PTC). N1-PTC patients are stratified as intermediate-risk and high-risk (HR) patients, according to the American Thyroid Association (ATA) and European Thyroid Association (ETA) respectively. The aim of this study was to assess the value of post-operative cervical US (POCUS) in local persistent disease (PD) diagnosis and in the reassessment of risk stratification in N1-PTC patients.DesignRetrospective cohort study.MethodsBetween 1997 and 2010, 638 N1-PTC consecutive patients underwent a systematic POCUS. Sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) of POCUS for the detection of PD were evaluated and a risk reassessment using cumulative incidence functions was carried out.ResultsAfter a median follow-up of 41.6 months, local recurrence occurred in 138 patients (21.6%), of which 121 were considered to have PD. Sensitivity, specificity, NPV, and PPV of POCUS for the detection of the 121 PD were 82.6, 87.4 95.6, and 60.6% respectively. Cumulative incidence of recurrence at 5 years was estimated at 26% in ETA HR patients, 17% in ATA intermediate-risk patients, and 35% in ATA HR patients respectively. This risk fell to 9, 8, and 11% in the above three groups when the POCUS result was normal and to <6% when it was combined with thyroglobulin results at ablation.ConclusionPOCUS is useful for detecting PD in N1-PTC patients and for stratifying individual recurrence risk. Its high NPV could allow clinicians to tailor follow-up recommendations to individual needs.

scholarly journals Long-term cardiovascular and cerebrovascular morbidity in Israeli thyroid cancer survivors

2019 ◽  
Vol 8 (4) ◽  
pp. 398-406 ◽  
Author(s):  
Elena Izkhakov ◽  
Joseph Meyerovitch ◽  
Micha Barchana ◽  
Yacov Shacham ◽  
Naftali Stern ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Disease ◽  
Proportional Hazards ◽  
Population Based ◽  
Cox Proportional Hazards ◽  
Control Group ◽  
Study Group ◽  
American Thyroid Association ◽  
Cox Proportional Hazards Models ◽  
Increased Risk

Objective Thyroid cancer (TC) survivors may be at risk of subsequent cardiovascular and cerebrovascular (CaV&CeV) morbidity. The 2009 American Thyroid Association (ATA) guidelines recommended less aggressive treatment for low-risk TC patients. The aim of this study was to assess the atherosclerotic CaV&CeV outcome of Israeli TC survivors compared to individuals with no thyroid disease, and the atherosclerotic CaV&CeV outcome before (2000–2008) and after (2009–2011) implementation of the 2009 ATA guidelines. Methods All members of the largest Israeli healthcare organization who were diagnosed with TC from 1/2000 to 12/2014 (study group) and age- and sex-matched members with no thyroid disease (controls) were included. Adjusted hazard ratios (HRs) and 95% confidence intervals (95% CIs) were calculated using Cox proportional hazards models. Results The mean follow-up was 7.6 ± 4.2 and 7.8 ± 4.1 years for the study (n = 5,677, 79% women) and control (n = 23,962) groups, respectively. The former had an increased risk of new atherosclerotic CaV&CeV events (adjusted HR 1.26, 95% CI 1.15–1.39). The 5-year incidence of CaV&CeV was lower (adjusted HR 0.49, 95% CI 0.38–0.62) from 2009 to 2011 compared to 2000 to 2008, but remained higher in the study group than in the control group (adjusted HR 1.5, 95% CI 1.14–1.69). Conclusions This large Israeli population-based cohort study showed greater atherosclerotic CaV&CeV morbidity in TC survivors compared to individuals with no thyroid diseases. There was a trend toward a decreased 5-year incidence of atherosclerotic CaV&CeV events among TC survivors following the implementation of the 2009 ATA guidelines, but it remained higher compared to the general population.

scholarly journals Ablation rate after radioactive iodine therapy in patients with differentiated thyroid cancer at intermediate or high risk of recurrence: a systematic review and a meta-analysis

2021 ◽  
Author(s):  
Michele Klain ◽  
Carmela Nappi ◽  
Emilia Zampella ◽  
Valeria Cantoni ◽  
Roberta Green ◽  
...  
Keyword(s):  
Systematic Review ◽  
Thyroid Cancer ◽  
High Risk ◽  
Differentiated Thyroid Cancer ◽  
Meta Analysis ◽  
Ablation Rate ◽  
Intermediate Risk ◽  
Risk Of Recurrence ◽  
Successful Ablation ◽  
Risk Patients

Abstract Purpose We performed a systematic review and a meta-analysis to investigate the successful ablation rate after radioiodine (RAI) administration in patients with differentiated thyroid cancer (DTC) at intermediate-high risk of recurrence. Methods A comprehensive literature search of the PubMed, Scopus and Web of Science databases was conducted according to the PRISMA statement. Results The final analysis included 9 studies accounting for 3103 patients at intermediate-high risk of recurrence. In these patients, the successful ablation rates ranged from 51–94% with a 71% pooled successful ablation and was higher in intermediate (72%) than in high (52%) risk patients. Despite the rigorous inclusion standards, a significant heterogeneity among the evaluated studies was observed. Higher administered RAI activities are associated with a lower successful ablation rate in the whole population and in the subgroup of high-risk patients. Further, pooled recurrence rate in intermediate risk patients achieving successful ablation was only 2% during the subsequent 6.4-year follow-up while the pooled recurrence rate was 14% in patients who did not achieve a successful ablation. Conclusion In a large sample of 3103 patients at intermediate-high risk of persistent/recurrent disease, 71% of patients achieved a successful ablation. In these intermediate-risk patients, the probability of subsequent recurrence is low and most recurrence occurred in those with already abnormal findings at the first control.

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