Andrew J. Bauer
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View article: pT1a papillary thyroid carcinomas in pediatric patients
pT1a papillary thyroid carcinomas in pediatric patients Open
Background Observational studies in adults suggest that incidental PTC (iPTC) and non-incidental PTC (niPTC) are distinct entities. We examine the incidence of iPTC in pediatric patients undergoing thyroidectomy for benign conditions and c…
View article: <i>KEAP1</i> mutations activate the NRF2 pathway to drive cell growth and migration, and attenuate drug response in thyroid cancer
<i>KEAP1</i> mutations activate the NRF2 pathway to drive cell growth and migration, and attenuate drug response in thyroid cancer Open
The KEAP1/NRF2 pathway, a major regulator of the cellular oxidative stress response, is frequently activated in human cancers. Often mediated by loss-of-function mutations in KEAP1 , this activation causes increased NRF2 transcriptional ac…
View article: Navigating Multidisciplinary Care in Pediatric Thyroid Carcinoma: Insights From Children's Oncology Group Sites
Navigating Multidisciplinary Care in Pediatric Thyroid Carcinoma: Insights From Children's Oncology Group Sites Open
View article: Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism–Jaw Tumor Syndrome, and Carney Complex
Updated Recommendations for Pediatric Surveillance in Hereditary Endocrine Neoplasia Syndromes: Multiple Endocrine Neoplasias, Hyperparathyroidism–Jaw Tumor Syndrome, and Carney Complex Open
Hereditary endocrine neoplasia syndromes comprise multiple entities associated with an increased risk for the development of endocrine and nonendocrine neoplasms and other systemic manifestations. These syndromes typically demonstrate auto…
View article: MCT8 Deficiency in Females
MCT8 Deficiency in Females Open
Context Monocarboxylate transporter (MCT) 8 facilitates thyroid hormone (TH) transport across the blood-brain barrier. Pathogenic variants in SLC16A2 cause MCT8 deficiency (Allan-Herndon-Dudley syndrome), characterized by intellectual and …
View article: The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency
The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency Open
View article: Paediatric Thyroid Carcinoma: The Genetic Revolution and Its Implications for Therapy and Outcomes
Paediatric Thyroid Carcinoma: The Genetic Revolution and Its Implications for Therapy and Outcomes Open
Background: The understanding of the molecular basis of paediatric thyroid carcinoma has expanded rapidly in the last decade. Most carcinomas are associated with de novo somatic gene alterations that confer distinct clinicopathological cha…
View article: Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Open
View article: Approach to the Pediatric Patient With Thyroid Nodules
Approach to the Pediatric Patient With Thyroid Nodules Open
Thyroid nodules in pediatrics carry a higher risk for thyroid carcinoma, and the risk of malignancy in indeterminate thyroid nodules is higher when compared to adults. Despite a substantial increase in the incidence of pediatric thyroid ca…
View article: Update on Pediatric Surveillance Recommendations for <i>PTEN</i> Hamartoma Tumor Syndrome, <i>DICER1-</i>Related Tumor Predisposition, and Tuberous Sclerosis Complex
Update on Pediatric Surveillance Recommendations for <i>PTEN</i> Hamartoma Tumor Syndrome, <i>DICER1-</i>Related Tumor Predisposition, and Tuberous Sclerosis Complex Open
Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout chi…
View article: <i>DICER1</i>-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies
<i>DICER1</i>-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies Open
Purpose: DICER1-related tumor predisposition increases risk for a spectrum of benign and malignant tumors. In 2018, the International Pleuropulmonary Blastoma (PPB)/DICER1 Registry published guidelines for testing- and imaging-based survei…
View article: 8576 Genomic and Transcriptomic Characterization of Pediatric Thyroid Cancers
8576 Genomic and Transcriptomic Characterization of Pediatric Thyroid Cancers Open
Disclosure: J.C. Ricarte-Filho: None. E.R. Reichenberger: None. K. Hinkle: None. A.R. Isaza: None. A.J. Bauer: None. A.T. Franco: None. Background: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in both pediatr…
View article: Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency Open
View article: Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group
Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group Open
Gastrointestinal (GI) polyposis and cancer in pediatric patients is frequently due to an underlying hereditary cancer risk syndrome requiring ongoing cancer screening. Identification of at-risk patients through family history, clinical fea…
View article: Triiodothyronine levels in athyreotic pediatric patients during levothyroxine therapy
Triiodothyronine levels in athyreotic pediatric patients during levothyroxine therapy Open
Objective Levothyroxine (LT 4 ) monotherapy is the current recommended approach for treating pediatric patients post-total thyroidectomy (TT) based on the assumption that peripheral conversion of thyroxine (T 4 ) to triiodothyronine (T 3 )…
View article: Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review
Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review Open
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopment…
View article: Low-invasive somatic oncogenes and lymph node metastasis in pediatric papillary thyroid cancer: implications for prophylactic central neck dissection
Low-invasive somatic oncogenes and lymph node metastasis in pediatric papillary thyroid cancer: implications for prophylactic central neck dissection Open
Objective The American Thyroid Association (ATA) Pediatric Guidelines recommend selective, prophylactic central neck dissection (pCND) for patients with papillary thyroid carcinoma (PTC) based on tumor focality, tumor size, and the surgeon…
View article: The Evaluation and Management of Methimazole-Induced Agranulocytosis in the Pediatric Patient: A Case Report and Review of the Literature
The Evaluation and Management of Methimazole-Induced Agranulocytosis in the Pediatric Patient: A Case Report and Review of the Literature Open
Introduction: Agranulocytosis is a rare but serious complication of methimazole (MMI) use for Graves’ disease (GD). Treatment requires discontinuation of MMI, and the use of propylthiouracil (PTU) is also contraindicated. Few…
View article: Thyroid Neoplasia
Thyroid Neoplasia Open
View article: Pulmonary Injury after Radioactive Iodine Therapy in Pediatric Papillary Thyroid Cancer: A Case Report
Pulmonary Injury after Radioactive Iodine Therapy in Pediatric Papillary Thyroid Cancer: A Case Report Open
Introduction: Radiation-induced lung injury is a rare complication of radioactive iodine therapy (RAIT) in pediatric thyroid cancer treatment. In this case report, we describe a pediatric patient with an ERC1::RET-positive classic papillar…
View article: Thyroid Ultrasound Screening in Childhood Cancer Survivors following Radiotherapy
Thyroid Ultrasound Screening in Childhood Cancer Survivors following Radiotherapy Open
Introduction: Childhood cancer survivors (CCS) are at risk for radiotherapy (RT) late effects, including second malignancies. Optimal screening for differentiated thyroid cancer (DTC) in CCS post-RT remains controversial. We …
View article: Outcomes of ATA Low-Risk Pediatric Thyroid Cancer Patients Not Treated With Radioactive Iodine Therapy
Outcomes of ATA Low-Risk Pediatric Thyroid Cancer Patients Not Treated With Radioactive Iodine Therapy Open
Context The American Thyroid Association (ATA) Pediatric Guidelines recommend patients not receive radioactive iodine therapy (RAIT) for differentiated thyroid cancer (DTC) confined to the thyroid. Since publication, there is ongoing conce…
View article: Data from <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies
Data from <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies Open
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord–stromal…
View article: Data from <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies
Data from <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies Open
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord–stromal…
View article: Supplementary Table S1: Searches on PubMed using keyword(s) and DICER1 from <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies
Supplementary Table S1: Searches on PubMed using keyword(s) and DICER1 from <i>DICER1</i> and Associated Conditions: Identification of At-risk Individuals and Recommended Surveillance Strategies Open
Searches on PubMed using keyword(s) and DICER1
View article: DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer
DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer Open
DICER1 is a highly conserved RNase III endoribonuclease essential for the biogenesis of single-stranded mature microRNAs (miRNAs) from stem-loop precursor miRNAs. Somatic mutations in the RNase IIIb domain of DICER1 impair its ability to g…
View article: Development of Novel Murine BRAFV600E-Driven Papillary Thyroid Cancer Cell Lines for Modeling of Disease Progression and Preclinical Evaluation of Therapeutics
Development of Novel Murine BRAFV600E-Driven Papillary Thyroid Cancer Cell Lines for Modeling of Disease Progression and Preclinical Evaluation of Therapeutics Open
The Cancer Genome Atlas study in thyroid cancer exposed the genomic landscape of ~500 PTCs and revealed BRAFV600E-mutant tumors as having different prognosis, contrasting indolent cases and those with more invasive disease. Here, we descri…
View article: Pediatric thyroid cancer guidelines: challenges in stratifying care based on limited data
Pediatric thyroid cancer guidelines: challenges in stratifying care based on limited data Open
The 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (1) were developed by a task force comprising well-respected, expert clinicians with good representation …
View article: Clinicopathologic Characteristics of Pediatric Follicular Variant of Papillary Thyroid Carcinoma Subtypes: A Retrospective Cohort Study
Clinicopathologic Characteristics of Pediatric Follicular Variant of Papillary Thyroid Carcinoma Subtypes: A Retrospective Cohort Study Open
Introduction: Follicular patterned thyroid nodules with nuclear features of papillary thyroid carcinoma (PTC) encompass a range of diagnostic categories with varying risks of metastatic behavior. Subtypes include the invasive…
View article: Hormonal Crosstalk Between Thyroid and Breast Cancer
Hormonal Crosstalk Between Thyroid and Breast Cancer Open
Differentiated thyroid cancer and breast cancer account for a significant portion of endocrine-related malignancies and predominately affect women. As hormonally responsive tissues, the breast and thyroid share endocrine signaling. Breast …