Periampullary cancers are rare tumors arising within 2 cm of the major papilla of the duodenum. In this case report, we describe the use of liquid biopsy to analyze cell-free tumor DNA and exosomal microRNA to guide treatment selection in a patient with periampullary adenocarcinoma. To our knowledge, this is the first time such case report has been described in the literature.

Glioma is a tumor of the central nervous system that occurs in the glial cells, Which it surrounds and protects the nerve cells. Glioblastoma Multiforme (GBM) is the most common and malignant sub-type of gliomas that arises from star-shaped cells called “astrocytes”, which constitute the supportive tissue of the brain. GBM are known to be heterogeneous in outcome with majority having a poor prognosis, thus there is an urgent need for novel therapeutic approaches. The detailed understanding of GBM is established by the combination of histopathology and genomic information of the tumor that aids in the best choice of Personalized Medicine. In this article, seven GBM patients are discussed who underwent tissue diagnosis as well as tumor molecular profiling; the significance of the genes and associated mutations/variations picked up in each individual

Editorial

Letter to Editor

In a given population, there is considerable variation between individuals with regard to response to as well as toxicity of different drugs. The term “Pharmacogenetics” has largely been used in relation to genes determining drug metabolism, while “Pharmacogenomics” is a broader based term that encompasses all genes in a genome that may determine drug response. In oncology, efficacy and safety of many chemotherapeutic drugs show substantial individual and/or population variability. It can be explained, to a great extent, by gene polymorphism encoding drug-metabolizing enzymes, drug transporters, and drug targets which influence the pharmacokinetics and pharmacodynamics and affect clinical outcomes. Single nucleotide polymorphisms (SNPs) are the most studied genetic variants at present due to ease, accuracy, and reduced the cost of processing as well as due to public availability of online resources for SNPs. Candidate genes for a therapeutic and adverse response can be divided into three categories: Pharmacokinetic, receptor/target, and disease-modifying. Many anticancer drugs are evaluated for their variation in response according to germline variations. This information can be easily incorporated in day-to-day practice to improve efficacy and/or safety of these drugs. In the future, advances gained from pharmacogenetics research will provide information to guide doctors in advising just enough of the right medicine to a person – The practice of “personalized medicine.”

Breast cancer today has emerged as the most commonly diagnosed malignancy in women world wide, accounting for 1 in 4 of every cancer diagnosed in women today. It is the leading cause of cancer death in women in the developing world and second leading cause of cancer (following lung cancer) in the developed world. Introduction of novel high through-output gene expression profiling technologies such as Next Generation Sequencing (NGS) and Genome wide association studies (GWAS) has led to the genetic profiling of breast cancer and to the development of genomic assays that ushered in an paradigm shift in the management of breast cancer from single individual variable to multivariate prediction models encompassing the tumors gross, microscopic and genetic variables. Oncotype DX, MammaPrint assay, MammoStrat assay, & Prosigna kit are some of the commercially available assays in various stages of validation. But various studies have reported discordance in risk stratification when the different tests is applied to the same patient cohort leading to a therapeutic quagmire. Tumor genetic signatures are not concordant but highly variable with each carrying its own unique set of genes dictating its growth, response to chemotherapy and risk of recurrence. Similarly triple negative breast cancers (TNBC), risk of late recurrence (> 5 years), validity of these over different population groups and quality control are some of the other issues which are yet to settle

The role of pharmacogenetics in the personalization of tamoxifen therapy has relevance in the management of breast cancer. Since tamoxifen is a pro-drug, genetic polymorphism in Phase I and II drug metabolizing enzymes involved in the bioconversion of tamoxifen to therapeutically active metabolites is critical in determining therapeutic efficacy and adverse drug reactions of the therapy in breast cancer patients. In this review, the role of pharmacogenetics in the personalization of tamoxifen therapy has been discussed. Since, metabolism of tamoxifen by cytochrome P450 2D6 is significant in determining the therapeutic efficacy of the drug, most of the clinical evidence on tamoxifen pharmacogenetics have been correlated with cytochrome p450 2D6 genetic polymorphism. However, there is discordance in the clinical data, and one of the reasons is the incomplete analysis of all the alleles of cytochrome p450 2D6. International Tamoxifen Pharmacogenomics Consortium has been formed to assess the discordance. There is also clinical evidence associating genetic polymorphism in cytochrome P450 3A, 2C9, 2C19, Uridine diphosphate - glucuronosyltransferases (UGT) and sulfotransferases (SULT) with clinical outcome of tamoxifen therapy. However, associations of genetic polymorphism in cytochrome P450 3A, 2C9, 2C19, UGTs and SULT with clinical outcome in populations of different ethnicity are unexplored. Evidence on the association of genetic polymorphisms and the clinical outcome has been summarized. Since cost, statistically significant sample population size, labor, and ethical issues are the major concerns of a pharmacogenetic investigation; the significance of bottom-up approach in pharmacogenetics has been discussed.

India has a high disease burden and a large number of patients. There is a tremendous need for Indian biobanks to preserve Indian samples, to capture the great diversity of diseases to spur research into earlier, more precise diagnosis and better treatments for diseases plaguing India. This review article summarizes the key components of building a systematic comprehensive biobank, type and formats of sample and data, and the ethical and regulatory guidelines in India. An example of a growing Indian biobank, Sapien Biosciences, is shared along with its business model to reach sustainability. This is done by developing clinical diagnostics internally using the annotated samples but also sharing samples and outcomes data with external investigators. Our goal is to highlight the immense untapped value of Indian biospecimens and data, to catalyze the formation of collaborative networks of biobanks both within and outside India

We have developed a highly targeted custom next generation sequencing-based test targeting JAK2 exons 12 and 14, CALR exon 9, and MPL exon 10, which are implicated in Philadelphia-negative chronic myeloproliferative neoplasms. The assay is capable of ultra-high sequencing depth and producing mutational detection sensitivities of 0.5% and below. We have validated the performance of the test through orthogonal testing and demonstrated a high degree of multiplexing with up to 50 samples in a single run. We show the clinical utility of this test through the description of a couple of cases with myeloproliferative disorders with Type-II and Type-II-like mutations in exon 9 of the CALR gene.