Publications by authors named "Ilavarasi Gandhi"
Article Synopsis
- The study explored the use of circulating tumor DNA (ctDNA) as a "liquid biopsy" for children with solid tumors, focusing on its feasibility and clinical usefulness in real-time monitoring of their conditions.
- Out of 240 patients, plasma samples from 217 were analyzed, achieving a high success rate of 99.5% for extracting and quantifying cell-free DNA.
- The ctDNA analysis showed better mutation detection rates in non-CNS solid tumors and metastatic cases, suggesting its potential for tracking cancer progression in young patients.
Somatic copy number alterations (SCNAs) in tumors are clinically significant diagnostic, prognostic, and predictive biomarkers. SCNA detection from targeted next-generation sequencing panels is increasingly common in clinical practice; however, detailed descriptions of optimization and validation of SCNA pipelines for small targeted panels are limited. This study describes the validation and implementation of a tumor-only SCNA pipeline using CNVkit, augmented with custom modules and optimized for clinical implementation by testing reference materials and clinical tumor samples with different classes of copy number variation (CNV; amplification, single copy loss, and biallelic loss).
View Article and Find Full Text PDFHepatoblastoma (HB) is the most common pediatric primary liver malignancy, and survival for high-risk disease approaches 50%. Mouse models of HB fail to recapitulate hallmarks of high-risk disease. The aim of this work was to generate murine models that show high-risk features including multifocal tumors, vascular invasion, metastasis, and circulating tumor cells (CTCs).
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- The MYOD1 p.L122R mutation was found in aggressive embryonal rhabdomyosarcomas and other types of rhabdomyosarcomas, highlighting its significance in cancer research.
- A study at Texas Children's Hospital identified this mutation in six tumors and revealed multiple genomic alterations, with a high rate of targetable mutations in the patients, particularly in the PI3K-AKT pathway.
- The research also showed that MYOD1-mutant tumors had distinct histopathological features and patients with these tumors had poor outcomes, suggesting a need for targeted therapies and better understanding of the genetic landscape in pediatric sarcomas.
Background: Pediatric papillary thyroid carcinoma (PTC) is clinically and biologically distinct from adult PTC. We sequenced a cohort of clinically annotated pediatric PTC cases enriched for high-risk tumors to identify genetic alterations of relevance for diagnosis and therapy.
Methods: Tumor DNA and RNA were extracted from FFPE tissue and subjected to next-generation sequencing (NGS) library preparation using a custom 124-gene hybridization capture panel and the 75-gene Archer Oncology Research Panel, respectively.
Adult granulosa cell tumor (AGCT) and sex cord tumor with annular tubules (SCTAT) are distinct sex cord stromal tumors with different molecular signatures. We present a unique case of an incidental ovarian tumor with mixed AGCT and SCTAT morphologic patterns. Due to the unusual co-occurrence, molecular testing was separately performed on both components.
View Article and Find Full Text PDFThe opioid epidemic continues in the United States. Many have been impacted by this epidemic, including neonates who exhibit Neonatal Abstinence Syndrome (NAS). Opioid diagnosis and NAS can be negatively impacted by limited testing options outside the hospital, due to poor assay performance, false-negatives, rapid drug clearance rates, and difficulty in obtaining enough specimen for testing.
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