Publications by authors named "Hitesh M Goswami"
Various tumor cells may exhibit different genetic or phenotypic characteristics. This phenomenon of cancer cells, known as Tumor Heterogeneity, is responsible for multiple cancer sites caused in a single patient through metastases. It is possible that the biopsy of the most accessible metastasis will not provide enough information to reexamine tumor features and make therapeutic recommendations.
View Article and Find Full Text PDFDeep Diving Into the Fusion Across Cancer Types in the Indian Population From Formalin-Fixed Paraffin-Embedded RNA-Exome Data: A Road to Discovering Novel Rearrangements With Clinical Relevance.
JCO Glob Oncol
November 2024
Article Synopsis
- Gene fusions, important mutations in cancer, are under-researched in India, despite rising cancer cases.
- This study analyzed RNA-exome data from 1,392 Indian cancer patients to identify and validate gene fusions using advanced tools and methods.
- Findings revealed a high prevalence of FGFR fusions and 91 novel potential driver fusions, highlighting their significance as diagnostic markers and therapeutic targets across various cancer types.
Understanding the Impact of Population and Cancer Type on Tumor Mutation Burden Scores: A Comprehensive Whole-Exome Study in Cancer Patients From India.
JCO Glob Oncol
September 2023
Purpose: The purpose of this study was to understand the impact of population diversity and geographic variation on tumor mutation burden (TMB) scores across cancers and its implication on stratification of patients for immune checkpoint inhibitor (ICI) therapy.
Materials And Methods: This retrospective study used whole-exome sequencing (WES) to profile 1,233 Indian patients with cancer across 30 different cancer types and to estimate their TMB scores. A WES-based pipeline was adopted, along with an indigenously developed strategy for arriving at true somatic mutations.
Introduction: The concept of personalized medicine in cancer has emerged rapidly with the advancement of genome sequencing and the identification of clinically relevant variants that contribute to disease prognosis and facilitates targeted therapy options. In this study, we propose to validate a whole exome-based tumor molecular profiling for DNA and RNA from formalin-fixed paraffin-embedded (FFPE) tumor tissue.
Methods: The study included 166 patients across 17 different cancer types.