Global Retinoblastoma Study Group IMPORTANCE Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.OBJECTIVES To report the retinoblastoma stage at diagnosis in patients across the world during a single year, to investigate associations between clinical variables and national income level, and to investigate risk factors for advanced disease at diagnosis. DESIGN, SETTING, AND PARTICIPANTSA total of 278 retinoblastoma treatment centers were recruited from June 2017 through December 2018 to participate in a cross-sectional analysis of treatment-naive patients with retinoblastoma who were diagnosed in 2017. MAIN OUTCOMES AND MEASURESAge at presentation, proportion of familial history of retinoblastoma, and tumor stage and metastasis. RESULTSThe cohort included 4351 new patients from 153 countries; the median age at diagnosis was 30.5 (interquartile range, 18.3-45.9) months, and 1976 patients (45.4%) were female. Most patients (n = 3685 [84.7%]) were from low-and middle-income countries (LMICs). Globally, the most common indication for referral was leukocoria (n = 2638 [62.8%]), followed by strabismus (n = 429 [10.2%]) and proptosis (n = 309 [7.4%]). Patients from high-income countries (HICs) were diagnosed at a median age of 14.1 months, with 656 of 666 (98.5%) patients having intraocular retinoblastoma and 2 (0.3%) having metastasis. Patients from low-income countries were diagnosed at a median age of 30.5 months, with 256 of 521 (49.1%) having extraocular retinoblastoma and 94 of 498 (18.9%) having metastasis. Lower national income level was associated with older presentation age, higher proportion of locally advanced disease and distant metastasis, and smaller proportion of familial history of retinoblastoma. Advanced disease at diagnosis was more common in LMICs even after adjusting for age (odds ratio for low-income countries vs upper-middle-income countries and HICs, 17.92 [95% CI,, and for lower-middle-income countries vs upper-middle-income countries and HICs, 5.74 [95% CI,). CONCLUSIONS AND RELEVANCEThis study is estimated to have included more than half of all new retinoblastoma cases worldwide in 2017. Children from LMICs, where the main global retinoblastoma burden lies, presented at an older age with more advanced disease and demonstrated a smaller proportion of familial history of retinoblastoma, likely because many do not reach a childbearing age. Given that retinoblastoma is curable, these data are concerning and mandate intervention at national and international levels. Further studies are needed to investigate factors, other than age at presentation, that may be associated with advanced disease in LMICs.
Thyroid nodules occur in 1-2% of children, and identifying which nodules are malignant is often challenging. Cytologic evaluation facilitates the diagnosis of thyroid lesions (TLs), but in 10-40% of cases the interpretation is indeterminate. Patients with indeterminate diagnoses are often treated with hemithyroidectomy followed by completion thyroidectomy, if cancer is found in the initial specimen. Exposing patients to multiple surgeries increases costs and morbidity. The American Thyroid Association states that a combination of molecular markers is likely to optimize the management of patients with indeterminate cytology. However, few studies have addressed the molecular alterations present in pediatric TL. Twenty-seven thyroid carcinomas from patients 10 to 19 years of age were tested for alterations common in adult TL, including BRAF V600E mutation, RET fusions, and TERT promoter mutations. Mutation-negative cases were subsequently analyzed with a next-generation sequencing (NGS) mutation panel to search for additional targets. Histologic diagnoses included 12 classic papillary thyroid carcinomas (PTCs), 13 follicular variant PTCs, 1 medullary thyroid carcinoma, and 1 follicular carcinoma. Fourteen cases showed lymph node involvement, and 13 cases demonstrated lymphovascular invasion. The BRAF V600E mutation was detected in 10/27 cases, and RET fusions were detected in 6/27 cases. No TERT promoter mutations were identified in any of the cases. The NGS panel revealed additional RET and CTNNB1 pathogenic missense mutations. Our results demonstrate that molecular abnormalities are common in pediatric TLs and suggest that incorporation of molecular testing will be helpful in optimizing patient management.
There is no apparent clinical benefit for catheter drainage of sterile fluid collections arising in acute pancreatitis as the length of hospital stay and mortality were similar between patients undergoing aspiration versus catheter drainage. However, almost half of patients treated with simple aspiration will require surgical or percutaneous drainage at some point. Disadvantages of chronic catheter drainage include a greater than 50% rate of bacterial colonization and the need for multiple sinograms and tube changes over an average duration of about 2 months.
Thymic tissue rests can be found all along the route of thymic descent from the neck into the anterior mediastinum and are frequently misinterpreted as pathological masses, which leads to biopsy or surgical removal. We present a case of ectopic thymic tissue in the neck and review the imaging characteristics of our patient and those found in the literature to determine if biopsy for this normal variation can be avoided. US findings of ectopic tissue reveal the exact tissue characteristics of normal thymus. The ectopic thymus may have an angulated configuration and mold over adjacent structures rather than displacing or invading them. If further verification is needed, T1-weighted MR images show homogeneous isointense or slightly hyperintense tissue compared with muscle and T2-weighted images show hyperintensity. The mass has the same structure as the normal thymus. We believe, on the basis of these findings, that one can confidently avoid the need for biopsy to prove that the discovered mass is ectopic thymus tissue.
The aim of this study was to re-evaluate the specificity of plain film findings in intussusception. The plain film findings in 80 cases of proven intussusception were reviewed. Findings documented were: (1) presence or absence of small bowel obstruction, (2) paucity of right lower quadrant gas, (3) presence of an intracolonic mass, (4) presence of a rim or target sign, and (5) presence of the classic triad of intestinal obstruction, intracolonic mass, and paucity of right lower quadrant gas. Intestinal obstruction was present in 54% of patients. In 19 patients (24%) the abdominal films were completely normal. Paucity of right lower quadrant gas was seen in 10% of patients, while specific findings of a mass or a target (rim) sign were seen in 29% of patients. The classic triad of an intracolonic mass, obstruction, and paucity of gas in the right lower quadrant occurred in only 1 patient (1%). Plain films of the abdomen were diagnostic of intussusception in only 29% of cases. A completely normal gas pattern was seen in one-quarter of our patients. This being the case, most patients with suspected intussusception will require further imaging, either by ultrasound or contrast enema. In our institution we favor the ultrasound study.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.