Papillary thyroid carcinoma (PTC), the most common malignancy of the endocrine system, is frequently driven by BRAFV600E mutation, which was reported in 35-60% cases in Western series. Numerous studies have recently emerged from Asian countries and regions; however sufficient summary is lacking to date. BRAF mutation serves as a diagnostic and prognostic tool in thyroid cancer, therefore establishing a rate of BRAF on the national scale could be of practical significance. We performed systematic reviews of available literature to investigate the prevalence of BRAF mutation in series of PTC from various Asian countries and regions. Out of the total 3,966 reports identified via initial screening, 138 studies encompassing over 40,000 PTCs were included for the final analysis. A vast majority (90.2%) of PTCs with known BRAF status were from East Asia, including China, South Korea, and Japan, with BRAF mutation rates of 71.2%, 75.5%, and 70.6%, respectively. Less abundant Indian and Saudi Arabian series found 45.6% and 46.3% prevalence of BRAFV600E in PTC, respectively. Much limited evidence was available from Thailand, Iran, Kazakhstan, Taiwan, Singapore, Indonesia, Hong Kong, Philippines, Vietnam, Iraq, and Myanmar. No relevant publications were found from other highly populated countries, such as Pakistan, Bangladesh, and Malaysia. After grouping by geographic region, we found that the highest rate of BRAFV600E was reported in the PTC series from East Asia (76.4%). Much lower rate (45-48%) was seen in PTC cohorts from South Asia, Central Asia, and the Middle East while the Southeast Asian series were in between (57%). Further subgroup analysis revealed that studies employing fresh frozen tissue and fine-needle aspirates showed higher rates of BRAF compared to those used formalin-fixed paraffin-embedded tissues. We found that the PTC series enrolled patients' cohorts after 2010 demonstrated a higher rate of BRAF compared to the earlier series. Finally, pediatric PTCs had lower BRAF prevalence compared to the baseline rate for the country. In conclusion, despite considerable among and within countries heterogeneity, the Asian PTC series showed a higher prevalence of BRAFV600E mutation than that in Western series. Causes of geographic heterogeneity, whether genuine (etiology, genetics) or methodology-related should be further investigated.

/pdf/prevalence-of-brafv600e-mutation-in-asian-series-of-389jiuscuy.pdf

Prevalence of BRAFV600E mutation in Asian series of papillary thyroid carcinoma-a contemporary systematic review.

Seventeen children with rhabdomyosarcoma arising in the head and neck are presented. With a median follow-up of 2 years 3 months, 11 patients are currently living, seven patients are alive free of disease, and local control was achieved in 11 patients. Of 13 group III patients managed with irradiation and chemotherapy following biopsy, seven patients are alive, with four patients free of disease, and local control achieved in eight patients. In a subgroup of nine group III patients with tumor involving multiple head and neck sites, four patients are alive, with two patients free of disease, and local control achieved in six patients. In four groups I-II patients, local control was achieved in three, and all patients are currently living. Long-term complications include facial bone hypoplasia in three patients and cataracts in three patients. Primary irradiation and chemotherapy can locally control rhabdomyosarcoma of the head and neck, while avoiding the functional and cosmetic sequelae associated with surgical ablation.

Rhabdomyosarcoma of the head and neck in children

Thyroid cancer is a rare malignancy in the pediatric population that is highly associated with disease aggressiveness and advanced disease stages when compared to adult population. The biological and molecular features underlying pediatric and adult thyroid cancer pathogenesis could be responsible for differences in the clinical presentation and prognosis. Despite this, the clinical assessment and treatments used in pediatric thyroid cancer are the same as those implemented for adults and specific personalized target treatments are not used in clinical practice. In this review, we focus on papillary thyroid carcinoma (PTC), which represents 80-90% of all differentiated thyroid carcinomas. PTC has a high rate of gene fusions and mutations, which can influence the histologic subtypes in both children and adults. This review also highlights telomere-related genomic instability and changes in nuclear organization as novel biomarkers for thyroid cancers.

https://www.mdpi.com/2072-6694/12/11/3146/pdf

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

Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of deciphering genes and realizing the precision medicine for rare diseases. Here, we preset a standardized system for various types of rare diseases, called encyclopedia of Rare disease Annotations for Precision Medicine (eRAM). eRAM was built by text-mining nearly 10 million scientific publications and electronic medical records, and integrating various data in existing recognized databases (such as Unified Medical Language System (UMLS), Human Phenotype Ontology, Orphanet, OMIM, GWAS). eRAM systematically incorporates currently available data on clinical manifestations and molecular mechanisms of rare diseases and uncovers many novel associations among diseases. eRAM provides enriched annotations for 15 942 rare diseases, yielding 6147 human disease related phenotype terms, 31 661 mammalians phenotype terms, 10,202 symptoms from UMLS, 18 815 genes and 92 580 genotypes. eRAM can not only provide information about rare disease mechanism but also facilitate clinicians to make accurate diagnostic and therapeutic decisions towards rare diseases. eRAM can be freely accessed at http://www.unimd.org/eram/.

/pdf/eram-encyclopedia-of-rare-disease-annotations-for-precision-czj43sm5x2.pdf

eRAM: encyclopedia of rare disease annotations for precision medicine

Pediatric differentiated thyroid carcinoma: An update from the APSA Cancer Committee.

In adults, the presence of the BRAF V600E mutation in papillary thyroid cancer (PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF V600E mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF V600E mutation in 48 pediatric patients with PTC, aged 3–13 years. Of these patients, 41 were diagnosed with classic PTC, five were found to have a follicular variant of PTC, and two to exhibit a diffuse sclerosing PTC variant. The BRAF V600E mutation was identified to be present in 35.4% of the 48 analyzed patients, and in 41.5% of the patients diagnosed with classical PTC. Furthermore, the presence of the BRAF V600E mutation was found to be associated with a patient age at diagnosis of less than ten years ( P =0.011), the performance of a thyroidectomy ( P =0.03), exhibited tumor multifocality ( P =0.02) and/or extra-thyroidal invasion ( P =0.003), and both a low MACIS (Metastases, Age, Completeness of resection, Invasion, Size)( P =0.036) and AMES (Age, Metastasis, Extent of tumor, Size)( P =0.001) score. Together, these data suggest that the presence of the BRAF V600E mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric PTC.

Correlation between BRAF V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma

Many efforts have been made to address involvement of the insulin-like growth-factor (IGF) pathway in rhabdomyosarcoma (RMS) pathogenesis, but the actual role of IGF in RMS is still controversial. Objective To investigate the implications of IGF2, IGFBP2 and p63 in RMS, and further explored their potential interaction. Design A total of 114 specimens of RMS along with clinic-pathologic characteristics were collected from the year of 2003 to 2013. Protein abundance was detected by immunohistochemical staining, potential relationships between protein levels and clinic-pathological parameters were applied using correlation analysis. Results The results showed positive correlation between IGFBP2 and p63 (r = 0.271, p  = 0.003), suggesting that the interaction of IGFBP2 and p63 might account for the pathogenesis of RMS. In the subtype analysis, positive correlation was still found in embryonal rhabdomyosarcoma (ERMS, r = 0.214, p  = 0.034) and alveolar rhabdomyosarcoma (ARMS, r = 0.498, p  = 0.048). By focusing on the interaction of IGF pathway and p63, our results reveal additional signs to elucidate difference of pathogenesis and severity between ERMS and ARMS. Conclusions The present study provides novel evidence to elucidate RMS pathogenesis and may be beneficial to clinical diagnosis and therapy for RMS.

Investigation of IGF2, IGFBP2 and p63 proteins in rhabdomyosarcoma tumors

Objective
To analyze the clinical features and prognosis of adrenalcortical carcinoma in children and improve its diagnosis and treatment.


Methods
Medical records were retrospectively analyzed for 16 patients hospitalized from January 2002 to March 2012. And their clinical symptoms, endocrine function, imaging findings, pathological diagnosis and treatment were discussed. And follow-ups were conducted.


Results
All cases were pathologically diagnosed as adrenal cortical carcinoma. There were functional (n=10) and non-functional (n=6) tumors. Complete macroscopic resection of tumor was performed for 12 cases while another, 4 cases had gross residue. The postoperative period was uneventful. Outpatient or telephone follow-ups were conducted for 6-12 years.. All 4 cases of total resection survived with a normal development. One case with severe kidney adhesions underwent nephrectomy with a postoperative survival of 6 months. Three cases with tumor thrombus survived 1, 5 and 12 months respectively. One case on a 4-week chemotherapy died from pulmonary metastasis while another 2 cases died 6 months later from bone marrow suppression and infection due to chemotherapy. One case received a 2-year chemotherapy and died from sudden brain metastases. One case died in a car accident While another 3 cases were lost. The average survival time was 35 months.


Conclusions
Adrenal cortical carcinoma is a rare tumor with a high degree of malignancy and a poor prognosis in children. Surgical excision remains main treatment for this disease. The perioperative application of corticosteroids is absolutely necessary. Laparotomy is preferred over laparoscopic operation. In fact, preoperative and postoperative chemotherapies fail to improve the prognosis.


Key words: 
Adrenalcortical carcinoma; Diagnosis; Treatment

Diagnosis and treatment of adrenal cortical carcinoma in children

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Papers

Correlation between BRAF V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma

Investigation of IGF2, IGFBP2 and p63 proteins in rhabdomyosarcoma tumors

Diagnosis and treatment of adrenal cortical carcinoma in children