ABSTRACT
Micropapillary urothelial carcinoma (MPUC) of the renal pelvis is an upper tract urothelial carcinoma originating in the renal pelvis region. Few genetic studies are available, and the mechanism of pathogenesis of genetically driven models is unclear. We report a case of genomic alterations in MPUC of the renal pelvis and compare the results with existing literature. DNA was extracted, followed by the next-generation sequencing of 351 oncogenes and tumor suppressor genes. Targeted gene sequencing analysis revealed somatic variants in ERBB2, KMT2C, FOXA1, and germline variants in CDKN1B, ELF3, TP53, and RB1 genes. The present case study sheds light on recognizing genetic variants in high-grade MPUC of the renal pelvis. Understanding molecular mechanisms helps with better prognostication and development of more effective therapeutics and treatment.
ABSTRACT
Non-coding RNAs (ncRNAs) have emerged as key regulators of gene expression, with growing evidence implicating their involvement in cancer development and progression. The potential of ncRNAs as diagnostic and prognostic biomarkers for cancer is promising, with emphasis on their use in liquid biopsy and tissue-based diagnostics. In a nutshell, the review comprehensively summarizes the diverse classes of ncRNAs implicated in cancer, including microRNAs, long non-coding RNAs, and circular RNAs, and their functions and mechanisms of action. Furthermore, we describe the potential therapeutic applications of ncRNAs, including anti-miRNA oligonucleotides, siRNAs, and other RNA-based therapeutics in cancer treatment. However, significant challenges remain in developing effective ncRNA-based diagnostics and therapeutics, including the lack of specificity, limited understanding of mechanisms, and delivery challenges. This review also covers the current state-of-the-art non-coding RNA research technologies and bioinformatic analysis tools. Lastly, we outline future research directions in non-coding RNA research in cancer, including developing novel biomarkers, therapeutic targets, and modalities. In summary, this review provides a comprehensive understanding of non-coding RNAs in cancer and their potential clinical applications, highlighting both the opportunities and challenges in this rapidly evolving field.
ABSTRACT
Acute generalized exanthematous pustulosis (AGEP) is a rare acute reaction that is drug induced in 90% of the cases and characterized by a widespread, sterile pustular rash. Erlotinib, a small-molecule EGFR tyrosine kinase inhibitor, has been approved by the FDA for patients with pancreatic cancer and non-small cell lung cancer. Skin rash is a well-known side effect related with all EGFR blocking agents. It has been suggested that rash could be used as a surrogate marker for response and possibly be associated with prolonged survival. We report a case of rare presentation of AGEP involving an adverse effect of erlotinib. The commonly reported adverse effects of erlotinib are mild skin eruptions. However, our case describes the rare presentation of AGEP induced by erlotinib. The estimated incidence rate of AGEP is approximately 1-5 cases per million/year.
