AI Article Synopsis
Article Abstract
Background And Objectives: Deletion and methylation of the 9p21 chromosomal region are frequent in childhood acute lymphoblastic leukemia (ALL) but the prognostic significance is controversial. They inactivate CDKN2A, a gene encoding both p16INKa and p14ARF and, in some cases, contiguous genes that may influence chemosensitivity, such as CDKN2B encoding p15INKb or MTAP encoding methylthioadenosine phosphorylase.
Design And Methods: CDKN2A inactivation by deletion or methylation was studied using gene dosage and methyl-specific polymerase chain reaction.
Results: Bi-allelic and mono-allelic inactivation were found in, respectively, 38 (17%) and 31 (14%) of 227 children with B-lineage ALL enrolled in EORTC trials. Although CDKN2A inactivation was more often associated with poor prognostic features in B-lineage ALL, it failed to influence the outcome of the patients significantly. Bi-allelic CDKN2B and MTAP co-inactivation were found in 36 (16%) and 24 (11%) of patients, respectively, and did not influence the 6-year event-free survival rate either, even when the analysis was restricted to CDKN2A inactivated ALL.
Interpretation And Conclusions: In this study of 227 cases of childhood B-lineage ALL, inactivation of CDKN2A, CDKN2B and MTAP did not influences the patients' outcome.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Metastatic Mesothelioma of the Tunica Vaginalis Presenting as Scrotal and Abdominal Nodules: A Case Report and Review of the Literature.
Am J Dermatopathol
January 2025
Department of Pathology, Stanford University School of Medicine, Stanford, CA.
Article Synopsis
- Mesothelioma of the tunica vaginalis testis (MMTVT) is a rare type of malignant mesothelioma, making up less than 3% of cases, and is linked to asbestos exposure, similar to pleural mesothelioma, but tends to have a better prognosis.
- The case presented involves a 67-year-old man with a history of asbestos exposure, who exhibited scrotal pain and unusual skin growths; diagnostic methods confirmed the presence of mesothelioma through specific immunohistochemical markers.
- Genetic testing revealed common alterations associated with malignant mesothelioma, and imaging suggested primary MMTVT, indicating this case involved cutaneous metastases to
Purpose: Gliosarcoma is a rare histopathological variant of glioblastoma, but it is unclear whether distinct clinical or molecular features distinguish it from other glioblastomas. The purpose of this study was to characterize common genomic alterations of gliosarcoma, compare them to that of glioblastoma, and correlate them with prognosis.
Methods: This was a single-institution, retrospective cohort study of patients seen between 11/1/2017 to 1/28/2024.
MTAP and p16 IHC as Markers for CDKN2A/B Loss in Meningiomas.
Cancers (Basel)
September 2024
Division of Pathology and Laboratory Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Background: Homozygous cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss is one of the parameters that support the designation of meningiomas as Central Nervous System (CNS) WHO grade 3 tumors. Evaluation of CDKN2A/B by sequencing or Fluorescence in situ hybridization (FISH) is costly and not always readily accessible. An immunohistochemistry (IHC)-based marker for the evaluation of CDKN2A/B loss would provide faster results at a lower cost.
View Article and Find Full Text PDFIdentification of novel proteins for coronary artery disease by integrating GWAS data and human plasma proteomes.
Heliyon
October 2024
Department of Emergency Medicine, Qilu Hospital of Shandong University, Shandong University, Jinan, 250012, Shandong, China.
Background: Most coronary artery disease (CAD) risk loci identified by genome-wide association studies (GWAS) are located in non-coding regions, hampering the interpretation of how they confer CAD risk. It is essential to integrate GWAS with molecular traits data to further explore the genetic basis of CAD.
Methods: We used the probabilistic Mendelian randomization (PMR) method to identify potential proteins involved in CAD by integrating CAD GWAS data (∼76,014 cases and ∼264,785 controls) and human plasma proteomes (N = 35,559).
Real-world assessment of comprehensive genome profiling impact on clinical outcomes: A single-institution study in Japan.
Cancer Med
September 2024
Department of Genetic Oncology, Osaka International Cancer Institute, Osaka, Japan.
Article Synopsis
- Comprehensive genome profiling (CGP) has changed healthcare by paving the way for personalized medicine, but its real-world effectiveness is still uncertain.
- A study at the Osaka International Cancer Institute analyzed data from 1,096 advanced solid tumor patients to assess how often CGP led to suitable therapies and its impact on patient outcomes.
- The findings revealed that while CGP provided clinical trial options for 60.9% of patients, only a small fraction (1.1%) could enroll, and the progression-free survival for treatments was generally short, indicating a need for better integration of CGP into trial systems and patient care.
Want 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!