A systematic review of ABCG8 mutation and sitosterolemia.

Background: Sitosterolemia is a rare inherited condition caused by elevated levels of plant sterols in the plasma, characterized by mutations in ABCG5 and ABCG8 genes. A scarce occurrence in this condition are hematological abnormalities such as hemolytic anemia, stomatocytosis, and macrothrombocytopenia. We conducted a meta-analysis and systematic review to answer these questions regarding patients who have hemolytic anemia and ABCG8 mutation.

Anticoagulation for Stroke Prevention in Patients with Atrial Fibrillation: A Review of the Literature and Current Guidelines.

Atrial fibrillation (AF) is the most common arrhythmia worldwide, characterized by uncoordinated atrial activation leading to a loss of effective atrial contraction and increased risk for atrial thrombi formation, promoting an increased risk of cardioembolic strokes and mortality, and associated increased healthcare expenditure. Therefore, stroke prevention represents a key focus in managing patients with atrial fibrillation, and strategies to achieve this aim have drastically evolved over the years. Previously, aspirin and warfarin were the cornerstone of stroke prophylaxis.

fusion driven () non-small cell lung cancer: a comprehensive genomic profiling study with histologic correlation.

Background: Fusion of the gene resulting in clinically significant Genomic Alteration (GA) occur in 1-2% of NSCLC in the United States and has emerged as a major target for inhibitors which are first line treatment options in the Stage 4 setting. fusions have also been well-described as acquired resistance mutations in cases of -driven NSCLC treated with anti- tyrosine kinase inhibitors including erlotinib and osimertinib. The aim of this study was to determine whether fusion positive () NSCLC represents a unique histologic subtype of the disease with a unique genomic profile.

A meta-analysis of the utility of cryotherapy for preventing peripheral neuropathy among breast cancer patients receiving paclitaxel and nab-paclitaxel.

Background: Cryotherapy with taxane infusion is a noninvasive strategy for preventing peripheral neuropathy (PN), but the efficacy of this approach has not been proven.

Methods: A systematic search was conducted, and 477 records were initially identified. The titles were screened independently by 2 reviewers.

Predicting the tumor microenvironment composition and immunotherapy response in non-small cell lung cancer from digital histopathology images.

Immune checkpoint inhibitors (ICI) have become integral to treatment of non-small cell lung cancer (NSCLC). However, reliable biomarkers predictive of immunotherapy efficacy are limited. Here, we introduce HistoTME, a novel weakly supervised deep learning approach to infer the tumor microenvironment (TME) composition directly from histopathology images of NSCLC patients.

Antibody-drug conjugates: Principles and opportunities.

Antibody-drug conjugates (ADCs) are immunoconjugates that combine the specificity of monoclonal antibodies with a cytotoxic agent. The most appealing aspects of ADCs include their potential additive or synergistic effects of the innate backbone antibody and cytotoxic effects of the payload on tumors without the severe toxic side effects often associated with traditional chemotherapy. Recent advances in identifying new targets with tumor-specific expression, along with improved bioactive payloads and novel linkers, have significantly expanded the scope and optimism for ADCs in cancer therapeutics.

Adjuvant Chemotherapy in Premenopausal Patients With Hormone-Positive Breast Cancer With a Recurrence Score of 16-25: A Retrospective Analysis Using the National Cancer Database.

Purpose: Results from the TAILORx trial revealed that the use of adjuvant chemotherapy along with endocrine therapy had no survival advantage in patients with estrogen receptor (ER)-positive, human epidermal growth factor receptor 2-negative (HER2-), node-negative (N0) breast cancer (BC) with an intermediate (11-25) 21-gene recurrence score (RS) in the overall population. However, in patients under age 50 years, adjuvant chemotherapy demonstrated a progression-free survival benefit when the RS ranged from 16-25. We studied this cohort with the population-based national database.

A Quality Improvement Initiative for Echocardiogram Ordering Patterns in an Academic Hospital.

Background Appropriate Use Criteria (AUC) for echocardiography are a useful tool to deliver quality healthcare. Our quality-based interventional study was designed to assess the trends in appropriate utilization rates for echocardiography in our institution and improve adherence to the AUC criteria for transthoracic echocardiograms (TTE). Methodology A prospective, time series analysis was conducted at the Upstate University Hospital for the months of July 2019 and August 2020.

Utilization and outcome disparities in allogeneic hematopoietic stem cell transplant in the United States.

Allogeneic hematopoietic stem cell transplant (allo-HSCT) is increasingly being used in the United States (US) and across the world as a curative therapeutic option for patients with certain high-risk hematologic malignancies and non-malignant diseases. However, racial and ethnic disparities in utilization of the procedure and in outcome following transplant remain major problems. Racial and ethnic minority patients are consistently under-represented in the proportion of patients who undergo allo-HSCT in the US.

Descriptive Analysis and Factors Influencing Survival in Patients With Primary Cutaneous Gamma-Delta T Cell Lymphoma. A Retrospective National Cancer Database Study.

Background: Gamma delta T cells gives rise to a rare malignancy called Primary cutaneous Gamma-Delta T cell lymphoma (PCGDTCL).

Methods: From the National Cancer Database (NCDB), 110 (0.015%) patients with PCGDTCL were identified.

Genomic landscape of clinically advanced wild-type pancreatic ductal adenocarcinoma.

Introduction: KRAS mutation is a common occurrence in Pancreatic Ductal Adenocarcinoma (PDA) and is a driver mutation for disease development and progression. KRAS wild-type PDA may constitute a distinct molecular and clinical subtype. We used the Foundation one data to analyze the difference in Genomic Alterations (GAs) that occur in KRAS mutated and wild-type PDA.

Metabolic syndrome is independently associated with improved overall survival to first-line therapy with immune checkpoint inhibitors in non-small cell lung cancer.

Background: Many co-existing medical conditions may affect the outcome in patients treated with immune checkpoint inhibitors for advanced cancer. There is currently not any information on whether metabolic syndrome (MetS) impacts the clinical outcome in patients treated with immune checkpoint inhibitors (ICIs) for advanced non-small cell line cancer (NSCLC).

Methods: We carried out a single-center retrospective cohort study to determine the effects of MetS on first-line ICI therapy in patients with NSCLC.

Radiation Recall Dermatitis Following Treatment With Pembrolizumab: A Case Report and Review of the Literature.

Radiation recall dermatitis is an inflammatory reaction of the skin that may infrequently occur in areas of the skin that have been previously treated with radiation therapy. This is thought to be due to a triggering agent administered after radiation therapy which leads to an acute inflammatory reaction, manifesting as a skin rash. We present the case of a 58-year-old male with recurrent invasive squamous cell carcinoma of the tongue, previously treated with chemotherapy and radiation therapy, who presented with progression of his disease.

Intestinal barrier functions in hematologic and oncologic diseases.

The intestinal barrier is a complex structure that not only regulates the influx of luminal contents into the systemic circulation but is also involved in immune, microbial, and metabolic homeostasis. Evidence implicating disruption in intestinal barrier functions in the development of many systemic diseases, ranging from non-alcoholic steatohepatitis to autism, or systemic complications of intestinal disorders has increased rapidly in recent years, raising the possibility of the intestinal barrier as a potential target for therapeutic intervention to alter the course and mitigate the complications associated with these diseases. In addition to the disease process being associated with a breach in the intestinal barrier functions, patients with hematologic and oncologic diseases are particularly at high risks for the development of increased intestinal permeability, due to the frequent use of broad-spectrum antibiotics and chemoradiation.

Genomic landscape of metastatic breast cancer (MBC) patients with methylthioadenosine phosphorylase () loss.

Introduction: Homozygous deletion of upregulates synthesis of purine (DNSP) and increases the proliferation of neoplastic cells. This increases the sensitivity of breast cancer cells to DNSP inhibitors such as methotrexate, L-alanosine and pemetrexed.

Materials And Methods: 7,301 cases of MBC underwent hybrid-capture based comprehensive genomic profiling (CGP).

Molecular Targets in Salivary Gland Cancers: A Comprehensive Genomic Analysis of 118 Mucoepidermoid Carcinoma Tumors.

Introduction: Salivary gland carcinomas (SGC) are histologically diverse cancers and next-generation sequencing (NGS) to identify key molecular targets is an important aspect in the management of advanced cases.

Methods: DNA was extracted from paraffin embedded tissues of advanced SGC and comprehensive genomic profiling (CGP) was carried out to evaluate for base substitutions, short insertions, deletions, copy number changes, gene fusions and rearrangements. Tumor mutation burden (TMB) was calculated on approximately 1.

Liposomal Daunorubicin and Cytarabine, a Potential Therapy for Blastic Plasmacytoid Dendritic Cell Neoplasm.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare aggressive malignancy with poor outcomes. Although novel options like tagraxofusp, a CD123-directed cytotoxin, has emerged and is promising, treatment options are very limited in the relapsed and recurrent setting. We present a case of refractory BPDCN in a 62-year-old man who showed a complete bone marrow response to liposomal daunorubicin and cytarabine (vyxeos).

Radioimmunoconjugates in the age of modern immuno-oncology.

Immunotherapy was first investigated as a therapeutic option for treating cancer more than a century ago. During this period, it has gone through numerous disappointments when the successes obtained in the laboratory were not matched clinically. However, recent advances in immuno-oncology have provided the impetus to revisit this therapeutic option.