Publications by authors named "A Trehan"
Introduction: Digital polymerase chain reaction (PCR) studies for clonal disease monitoring in B-acute lymphoblastic leukemia patients are currently limited due to the heterogeneous nature of mutations, which limit cost-effective assay designs.
Materials And Methods: In this study, 70 samples (14 relapse and 56 sequential therapy samples) were tested for 13 recurrent mutations identified on deep sequencing in our published cohort (KRAS, NRAS, NT5C2, PMS2, UHRF1, KMT2D, and TP53 genes) via a novel triplex digital PCR assay.
Results And Discussion: A total of seven major clones of NRAS [five] and NT5C2 [two] were noted in six out of 14 (43%) relapse patients, accounting for 44% of early relapses.
Article Synopsis
- - Cancer predisposition syndromes (CPS) are genetic disorders that raise cancer risk, yet many children in low- and middle-income countries go undiagnosed, impacting treatment and family counseling.
- - In a study of 60 pediatric oncology patients, six were identified with CPS, confirmed through whole exome sequencing that detected germline mutations in five cases, including two novel mutations.
- - The study found a 10% prevalence of CPS among the patients and suggests that using specific selection criteria for screening could improve diagnosis and treatment modifications in pediatric cancer patients in LMIC settings.
Article Synopsis
- * This scoping review investigates the current status of liquid biopsy biomarkers in NBL, adhering to PRISMA-ScR guidelines, and evaluated a total of 15 studies from 201 reviewed publications.
- * Findings show that liquid biopsy biomarkers, such as circulating tumor cells and circulating tumor DNA, could greatly enhance diagnosis and treatment monitoring for NBL, paving the way for advancements in precision medicine for childhood cancer care.
Introduction: Telomere length related studies are limited in pediatric marrow failure cases due to difficulty in establishing population specific age related normograms. Moreover, there is paucity of data related to clinical relevance of telomere length in idiopathic aplastic anemia (IAA) and non telomere biology inherited bone marrow failure syndrome (IBMFS) cases.
Methodology: Hence, in current study we investigated Relative telomere length (RTL) by RQ-PCR in 83 samples as: healthy controls (n = 44), IAA (n = 15) and IBMFS (n = 24).