Publications by authors named "Vidya H Veldore"

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.
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Article Synopsis
  • The study focuses on medullary thyroid cancer (MTC), a rare type of cancer from thyroid's parafollicular cells, and aims to analyze its genomic characteristics in the Indian population using advanced sequencing methods.
  • It utilized whole-exome and whole-transcriptome sequencing on 32 tissue samples, revealing significant mutations and alterations in known cancer genes, particularly in non-negative cases.
  • The findings suggest a potential for targeted therapies, notably highlighting a novel RET mutation (Y900S) that could respond well to specific RET inhibitors, emphasizing the need for personalized treatment approaches.
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Primary hepatic sarcomatoid carcinoma (HSC) is an extremely rare and aggressive subtype of primary liver cancer. HSC has uncertain pathogenesis and dismal prognosis with overall survival of only 8.3 months.

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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.

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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.

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Intermediate cell carcinoma is one of the rarest forms of primary liver cancer comprising relatively monomorphic populations of neoplastic epithelial cells demonstrating simultaneous positivity of both hepatocyte and cholangiocyte immunohistochemical markers. Here in, we describe an adult male patient who underwent left hepatectomy for a large liver tumor. The pathological and immunohistochemical analysis revealed the malignant primary liver cancer with intermediate cell morphology and mixed immunophenotypic features consistent with intermediate cell carcinoma.

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Plasma cell-free tumor DNA, or circulating tumor DNA (ctDNA), from liquid biopsy is a potential source of tumor genetic material, in the absence of tissue biopsy, for testing. Our validation study reiterates the clinical utility of ctDNA next generation sequencing (NGS) for EGFR mutation testing in non-small cell lung cancer (NSCLC). A total of 163 NSCLC cases were included in the validation, of which 132 patients had paired tissue biopsy and ctDNA.

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Aim: Breast cancer has become a pandemic with an ever-increasing incidence. Although better diagnostics and treatment modalities have reduced mortality, a large number of survivors face cancer and treatment-related long-term symptoms. Many survivors are taking up yoga for improving the quality of life (QoL).

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Breast cancer is the most common cancer in women worldwide. The clinical outcomes of which, have improved in the past decade, primarily due early diagnosis and multimodal management. Understanding of the disease biology with findings from omics-based research and molecular genetic characterization of the disease has been an important component of the therapy in the past 10 years.

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Background: Patients' who are positive for kinase domain activating mutations in epidermal growth factor receptor (EGFR) gene, constitute 30-40% of non-small cell lung cancer (NSCLC), and are suitable candidates for Tyrosine Kinase Inhibitor based targeted/personalized therapy. In EGFR non-mutated subset, 8-10% that show molecular abnormalities such as EML4-ALK, ROS1-ALK, KIP4-ALK, may also derive the benefit of targeted therapy. However, 40% of NSCLC belong to a grey zone of tumours that are negative for the clinically approved biomarkers for personalized therapy.

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Background: Although biopsy is the gold standard for diagnosis, cytological material has often been used to assist in making a pathologic diagnosis as well as for molecular testing in certain cancers such as in the lung, cervix, and head/neck.

Objective: Our objective is to share experience from our institution in the use of cytological material in screening for epidermal growth factor receptor (EGFR) mutations in a subset of patients with non-small cell lung cancer (NSCLC).

Methods: Fine needle aspirates, pleural effusion, cell blocks of 223 NSCLC patients, where cytology suggested malignancy were screened for EGFR mutation in exons 18-21 using Scorpion(®) ARMS real-time polymerase chain reaction (PCR) technology.

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Article Synopsis
  • Del(5)(q) is a chromosomal abnormality often linked to a good prognosis in Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML), but its role in Acute Lymphoblastic Leukemia (ALL) is not well understood.
  • A case study is presented involving a 75-year-old adult patient diagnosed with ALL, featuring the specific cytogenetic abnormality del(5)(q32).
  • The patient's clinical characteristics, cell morphology, and immunophenotyping indicated a diagnosis of T-cell Acute Lymphoblastic Leukemia (T-ALL), with further relevant literature reviewed for context.
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In Bacillus subtilis, the WalRK (YycFG) two-component system coordinates murein synthesis with cell division. It regulates the expression of autolysins that function in cell-wall remodeling and of proteins that modulate autolysin activity. The transcription factor WalR is activated upon phosphorylation by the histidine kinase WalK, a multi-domain homodimer.

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PagR is a transcriptional repressor in Bacillus anthracis that controls the chromosomal S-layer genes eag and sap, and downregulates the protective antigen pagA gene by direct binding to their promoter regions. The PagR protein sequence is similar to those of members of the ArsR repressor family involved in the repression of arsenate-resistance genes in numerous bacteria. The crystal structure of PagR was solved using multi-wavelength anomalous diffraction (MAD) techniques and was refined with 1.

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Bacteria use two-component systems to adapt to changes in environmental conditions. In response to deteriorating conditions of growth, certain types of bacteria form spores instead of proceeding with cell division. The formation of spores is controlled by an expanded version of two-component systems called the phosphorelay.

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