Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: An Overview Comparing Pediatric and Adult Populations

Rangel‐Pozzo, Aline; Sisdelli, Luiza; Cordioli, Maria Isabel V; Vaisman, Fernanda; Caria, Paola; Mai, Sabine; Cerutti, Janete M.

doi:10.3390/cancers12113146

Cited by 49 publications

(70 citation statements)

References 220 publications

(324 reference statements)

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“…For adults, the most common genetic changes are B-Raf proto-oncogene (BRAF V600E) and RAS (a family of small membrane GTPases) point mutations and rearranged in transformation/papillary thyroid carcinomas (RET/PTC) fusions. Human telomerase reverse transcriptase (HTERT) promoter mutations have been observed in adult papillary thyroid cancer (PTCs) and are associated with a more aggressive phenotype [ 11 , 12 , 13 , 14 , 15 , 16 ]. Gene mutations and RET/PTC, ETV6-NTRK3, and BRAF fusions (AGK-BRAF and AKAP9-BRAF) are more common in the pediatric population, especially up to the age of 10 years.…”

Section: Introductionmentioning

confidence: 99%

Thyroid Cancer Risk Factors in Children with Thyroid Nodules: A One-Center Study

Beń‐Skowronek

Sieniawska

Pach

et al. 2021

JCM

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Thyroid nodules are common in the adult population (13%), but in childhood, they are relatively rarely diagnosed (0.2–5%). The risk factors and diagnostic and therapeutic algorithms are well-known and effectively used in adults, but no clear procedures supported by scientific research are available in the pediatric population. Our aim in this study was to identify predictive factors for thyroid cancer in a pediatric population. We retrospectively analyzed 112 children (80 girls and 32 boys, aged 0.6–18 years, with an average group age of 13.4 ± 4.5 years) with thyroid nodules who presented or were referred between 2010 and 2021. A total of 37 children qualified for partial or total thyroidectomy. After histopathological nodule examination, the most common cases were benign lesions in 23 patients (57.5%) and malignant lesions in 14 children (32.5%). Solitary benign thyroid nodules were found in 16 children (40%). Malignancy risk was higher in children with increased nodule diameter (greater than 7 mm; p = 0.018) or hypoechogenic lesions in ultrasound (p = 0.010), with no correlation between increased blood flow in the vessels and tumor diagnosis. The relative risk of developing thyroid cancer for class III was found to be higher in comparison to adults and 11.1 times higher than for classes I and II combined.

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Section: Introductionmentioning

confidence: 99%

Thyroid Cancer Risk Factors in Children with Thyroid Nodules: A One-Center Study

Beń‐Skowronek

Sieniawska

Pach

et al. 2021

JCM

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“…Specific telomere profiles are associated with disease stability vs. progression [ 18 , 21 , 22 , 23 , 24 , 25 ]. Critically short telomeres, telomere dysfunction, and fusions have all been correlated with disease progression [ 18 , 25 , 27 , 28 , 29 ]. Therefore, telomere profiling may represent both a clinically useful prognostic tool and a potential guide for therapeutic intervention [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Telomere Architecture Correlates with Aggressiveness in Multiple Myeloma

Rangel‐Pozzo

Lal

et al. 2021

Cancers

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The prognosis of multiple myeloma (MM), an incurable B-cell malignancy, has significantly improved through the introduction of novel therapeutic modalities. Myeloma prognosis is essentially determined by cytogenetics, both at diagnosis and at disease progression. However, for a large cohort of patients, cytogenetic analysis is not always available. In addition, myeloma patients with favorable cytogenetics can display an aggressive clinical course. Therefore, it is necessary to develop additional prognostic and predictive markers for this disease to allow for patient risk stratification and personalized clinical decision-making. Genomic instability is a prominent characteristic in MM, and we have previously shown that the three-dimensional (3D) nuclear organization of telomeres is a marker of both genomic instability and genetic heterogeneity in myeloma. In this study, we compared in a longitudinal prospective study blindly the 3D telomeric profiles from bone marrow samples of 214 initially treatment-naïve patients with either monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM), or MM, with a minimum follow-up of 5 years. Here, we report distinctive 3D telomeric profiles correlating with disease aggressiveness and patient response to treatment in MM patients, and also distinctive 3D telomeric profiles for disease progression in smoldering multiple myeloma patients. In particular, lower average intensity (telomere length, below 13,500 arbitrary units) and increased number of telomere aggregates are associated with shorter survival and could be used as a prognostic factor to identify high-risk SMM and MM patients.

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“…It has been suggested that the genetic features of pediatric patients was different from adults [30][31][32] . The BRAF V600E mutation occurred in 27-83% of adult PTC cases, and was associated with the aggressive tumor features and poor outcome [32,33] . However, the frequency of BRAF V600E was about 19% in pediatric patients [34] , which was signi cantly lower.…”

Section: Discussionmentioning

confidence: 99%

Risk Factor Stratification of Lung Metastasis in Children and Adolescent Papillary Thyroid Cancer

Wang

Liu

Zhang

et al. 2021

Preprint

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Background: Lung metastasis (LM) in pediatric papillary thyroid cancer (pPTC) is significantly higher than in adults. While spare information about pPTC and LM hampers to formulate specific guideline. Hence, we retrospectively analyzed the whole pPTCs in our center to investigate factors associated with LM and therapy outcomes.Materials and Methods: PTCs with age＜20 years who received initial operations in ourcenterfrom December 2008 to December 2018 were retrospectively reviewed. Clinicopathological information, treatment pipelineand outcomes were analyzed retrospectively.Results:Totally, 114 pPTC patients were enrolled in our study, LM was observed in 17 (14.9 %) cases. Significant risk factors associated with LM were age, sex, tumor size, multifocality, extrathyroidal extension, lymph node metastasis, number of metastatic lymph nodes (NMLNs)and postoperative stimulated thyroglobulin (sTg). NMLNs ＞14 was identified as an independent risk factor for LM by multivariate analysis (OR 25.166, 95% CI 2.814 - 225.009, p = 0.004) with a sensitivity of 86.7% and specificity of 81.1% for LM, which was verified by integrated meta-analysis. In terms ofresponse to radioiodine treatment in LM, 2 cases reached ‘‘excellent’’ response. ‘‘Biochemically incomplete’’, ‘‘structurally incomplete’’ and “indeterminate” were in 3,12, 2 of 17 patients respectively. Postoperative sTg was correlated with the response to therapy of LM in pPTCs(p = 0.003).Conclusion: LM was frequently observed in pPTCs. NMLNs ＞14 was an independent risk factor for LM in our study and other cohorts, and postoperative sTg was a potential predictor for the therapy outcome of LM in pPTCs.

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Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: An Overview Comparing Pediatric and Adult Populations

Cited by 49 publications

References 220 publications

Thyroid Cancer Risk Factors in Children with Thyroid Nodules: A One-Center Study

Thyroid Cancer Risk Factors in Children with Thyroid Nodules: A One-Center Study

Telomere Architecture Correlates with Aggressiveness in Multiple Myeloma

Risk Factor Stratification of Lung Metastasis in Children and Adolescent Papillary Thyroid Cancer

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