Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

Family history is an important factor in determining hereditary cancer risk for many cancer types. The emergence of next-generation sequencing (NGS) has expedited the discovery of many hereditary cancer susceptibility genes and the development of rapid, affordable testing kits. Here, a 30-gene targeted NGS panel for hereditary cancer risk assessment was tested and validated in a Saudi Arabian population.

Epigenomics and immunotherapeutic advances in pediatric brain tumors.

Brain tumors are the leading cause of childhood cancer-related deaths. Similar to adult brain tumors, pediatric brain tumors are classified based on histopathological evaluations. However, pediatric brain tumors are often histologically inconsistent with adult brain tumors.

The Epidemiology of Primary Central Nervous System Tumors at the National Neurologic Institute in Saudi Arabia: A Ten-Year Single-Institution Study.

Objectives: This study is aimed at describing the epidemiological trends of primary CNS tumors in children and adults at the National Neurologic Institute in Saudi Arabia.

Methods: A retrospective epidemiological approach was used where data was obtained from the department of pathology registry files and pathology reports. The records of all patients registered from January 2005 to December 2014 with a diagnosis of primary CNS tumor (brain and spinal cord) were selected.

Religious Belief and Social Support Among Cancer Patients in Saudi Arabia.

Background People with cancer usually experience some degree of depression, anxiety, and fear, as if embracing the fact that cancer has become part of their lives. Additionally, religious beliefs can influence a patient's support system, as well as the patient's own emotional response, behavior, and decision-making, which can create a conflict with medical treatment. The objective of this study was to assess cancer patients' religious beliefs and social support.

Burnout Among Healthcare Providers in a Comprehensive Cancer Center in Saudi Arabia.

Background Overwork has grave consequences for staff health, either physically or psychologically. Burnout has an impact on health care turnover, patient safety, patient satisfaction, and patient perception towards health professionals. This study aims to assess the prevalence of burnout, psychosocial distress, occupational predictors, perceived causes, and suggested strategies for preventing or reducing its impact of burnout on oncology healthcare workers.

Rare variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.

Li-Fraumeni syndrome (LFS) is an inherited, autosomal-dominant condition that predisposes individuals to a wide-spectrum of tumors at an early age. Approximately 70% of families with classic LFS have pathogenic variants in the tumor suppressor gene that disrupt protein function or stability. While more than 70% of pathogenic variants in are missense variants, the vast majority occur very infrequently, and thus their clinical significance is uncertain or conflicting.

Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.

Primary brain tumors are a leading cause of cancer-related morbidity and mortality in children. Glioblastoma (GBM) is a high-grade astrocytoma that occurs in both children and adults and is associated with a poor prognosis. Despite extensive study in recent years, the clinical management of these tumors has remained largely unchanged, consisting of surgical resection, conventional chemotherapy, and radiotherapy.

The Effect of Satellite Laboratory Installation on Chemotherapy Waiting Time in an Oncology Treatment Unit.

Background Timely treatment is a patient's right. Increasing the efficiency of laboratory testing could potentially improve hospital operations, provide quicker access to health services, and have a positive impact on patient experience. Installation of a satellite laboratory may shorten laboratory turnaround time (TAT) and chemotherapy waiting time.

A case of molecularly profiled extraneural medulloblastoma metastases in a child.

Background: Extraneural metastases are relatively rare manifestations of medulloblastoma.

Case Presentation: We present the case of a young boy with group three MYCN-amplified medulloblastoma. He received multimodal chemotherapy consisting of gross total resection followed by postoperative craniospinal radiation and adjuvant chemotherapy.

Clinical characteristics and treatment outcome of childhood acute lymphoblastic leukemia in Saudi Arabia: a multi-institutional retrospective national collaborative study.

Background: Treatment of childhood acute lymphoblastic leukemia (ALL) has been available in Saudi Arabia (SA) for over 30 years; however, only limited data have been published from there. This study was conducted to establish processes for collaborative data collection and provide clinical characteristics and outcome of children with ALL in SA.

Procedure: Clinical data for patients diagnosed from 2004 to 2008 were retrospectively collected at eight institutions and entered remotely into a custom-built database.

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive immune disorder characterized by the occurrence of uncontrolled activation of lymphocytes and macrophages infiltrating multiple organs. Disease-causing mutations in the perforin (PRF1; also known as FHL2), Munc13-4 (UNC13D; also known as FHL3), and syntaxin-11 (STX11; also known as FHL4) genes have been identified in individuals with FHL. These genes all encode proteins involved in the cytotoxic activity of lymphocytes.