Purpose: Anaplastic lymphoma kinase (ALK) has recently been identified as a gene conferring a predisposition for neuroblastoma. We have analyzed tyrosine kinase domain mutations and amplification/expression of the ALK gene and focused on clinical features of neuroblastoma cases with ALK aberrations.
Methods: The frequency of ALK mutations, copy number gain, and expression were analyzed in 538 neuroblastoma tumors derived from 361 cases, including 161 cases detected by mass screening. These cases were analyzed according to clinicopathologic features including the International Neuroblastoma Staging System and patient outcomes.
Results: Three cases (0.8%) had ALK amplification, and 16 cases (5.2%) had missense mutations at positions F1174, F1245, D1249, and R1275. Among them, 7 cases were diagnosed at more than 14 months of age, and 11 cases were infants, including 9 cases detected by mass screening and 1 multiple neuroblastoma with a germline mutation. Of the 11 infants, 3 cases relapsed, and 1 case died of disease. Among cases detected by screening, activated ALK cases showed significantly worse prognosis (P = .002). Of 7 older cases, 5 had MYC amplifications, and 5 died of disease. The expression levels of ALK were up-regulated in cases with unfavorable outcomes. In cases with activated ALK neuroblastoma, survival rates of patients detected by screening were significantly better than those in the clinically detected group (P = .025).
Conclusions: The results of the present study support the hypothesis that activated ALK tumors represent a specific subset of neuroblastomas. These tumors usually develop in infants and may have a high capacity for recurrence.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jpedsurg.2012.05.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Post-pandemic epidemiological trends of respiratory infectious diseases in Taiwan: A retrospective analysis.
J Microbiol Immunol Infect
December 2024
Department of Internal Medicine, Chi Mei Medical Center, Tainan, Taiwan. Electronic address:
Background: This study analyzed the epidemiological trends of three significant respiratory infectious diseases in Taiwan: invasive pneumococcal disease (IPD), influenza with severe complications, and tuberculosis during post-COVID-19 pandemic period.
Methods: We utilized data from Taiwan's Centers for Disease Control and Prevention (CDC) website and classified the COVID-19 prevention policies into three phases for the year 2021, 2022, and 2023. We then performed a statistical analysis of reported case numbers for the three respiratory diseases during the 3-year period using the Kruskal-Wallis test, followed by joinpoint regression model for the identification of seasonal distribution and variation.
Accuracy of Radiomics in the Identification of Extrathyroidal Extension and BRAF Mutations in Papillary Thyroid Carcinoma: A Systematic Review and Meta-analysis.
Acad Radiol
January 2025
Department of Radiology and Intervention, Hospital Pakar Kanak-Kanak (UKM Specialist Children's Hospital), Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, 56000, Kuala Lumpur, Malaysia (Y.L., F.Y.L., J.N.C., H.A.H., H.A.M.); Makmal Pemprosesan Imej Kefungsian (Functional Image Processing Laboratory), Department of Radiology, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Kuala Lumpur 56000, Malaysia (H.A.M.). Electronic address:
Rationale And Objectives: Extrathyroidal extension (ETE) and BRAF mutation in papillary thyroid cancer (PTC) increase mortality and recurrence risk. Preoperative identification presents considerable challenges. Although radiomics has emerged as a potential tool for identifying ETE and BRAF mutation, systematic evidence supporting its effectiveness remains insufficient.
View Article and Find Full Text PDFCharacteristics of older patients undergoing surgery in the UK: SNAP-3, a snapshot observational study.
Br J Anaesth
January 2025
Centre for Research and Improvement, Royal College of Anaesthetists, London, UK; Anaesthesia a Critical Care, Injury, Recovery and Inflammation Sciences, University of Nottingham, Nottingham, UK.
Background: Frailty and multimorbidity are common in older adults, but the prevalence and interaction of these conditions in surgical patients remain unclear. This study describes the clinical characteristics of a heterogeneous cohort of older UK surgical patients.
Methods: We conducted a prospective observational cohort study during 5 days in March 2022, aiming to recruit all UK patients aged 60 yr and older undergoing surgery, excluding minor procedures (e.
Pursuing a target by wheel-legged mobile robot using NMPC while optimizing obstacles passing.
ISA Trans
December 2024
Robotic Research Laboratory, Centre of Excellence in Experimental Solid Mechanics and Dynamics, School of Mechanical Engineering, Iran University of Science and Technology, Tehran 16846-13114, Iran.
In this paper, trajectory tracking control as the pursuit of a specific target by wheel-legged mobile robots (WLMRs) in an environment with the presence of obstacles is presented. These types of robots are designed to navigate different paths such as slippery trajectories, paths with obstacles, and other challenging paths. In addition, the robot can move its legs in different surface conditions and operate more flexibly with the help of wheels attached to the legs.
View Article and Find Full Text PDFStrategies for Moderate-risk Delisting in Highly Sensitized Patients.
Transplant Proc
January 2025
Immunology Department, Immunopathology Group, Marqués de Valdecilla University Hospital-IDIVAL, Santander, Spain. Electronic address:
Background/aim: Despite the donor-exchange program implementation for highly sensitized (HS) patients, no improvement in waiting list in those HS patients with 100% calculated panel reactive of antibodies (cPRA) is observed. Recently, it has been published the treatment with imlifidase in desensitization algorithm. However, there are low-risk strategies to reduce cPRA.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!