Musa M. Alharbi

• Doctor of Medicine
• CMO at King Fahad Medical City

Background: In Saudi Arabia, breast cancer is the most common malignancy among women, significantly impacting cancer-related morbidity and mortality. The country’s unique demographics and rapid socioeconomic development contribute to distinct breast cancer patterns. Objective: To analyze demographic and pathological characteristics of breast canc...

BACKGROUND Familial adenomatous polyposis (FAP) is an autosomal-dominant dominant Familial Cancer Syndrome FCs Caused by Germline inactivation of adenomatous polyposis coli (APC) tumor suppressor gene, results in up-regulation of the WNT signaling pathway which increases the risk of colorectal cancer CRC, colon polyposis and extracolonic tumors lik...

BACKGROUND Familial Cancer Syndrome FCS is of particular concern in Saudi Arabia due to the high rates of consanguinity. Constitutional mismatch repair deficiency Syndrome (CMMRD) is an autosomal recessive FCS with a wide spectrum of malignancies Caused by Biallelic germline mutations in one of 4 mismatch repair genes (MLH1, PMS2, MSH2, and MSH6)....

INTRODUCTION Central Nervous System (CNS) embryonal tumors previously called Primitive neuroectodermal tumors of the CNS (CNS-PNETs) are highly malignant tumors that predominantly affect Yonge children. CNS World Health Organization (WHO) 2021classification includes new embryonal tumor subtypes: CNS neuroblastoma, FOXR2-activated, CNS tumor with BC...

BACKGROUND Medulloblastoma (MB) is the most common childhood malignant brain tumor treated with intensive multimodalities therapy including Surgery, Craniospinal Radiation, and chemotherapy. Our study aims to document the clinical courses, prognostic factors, and survival outcomes in Saudi children above three years with Medulloblastoma treated in...

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 assessmen...

Introduction: Reporting an error during a hospital journey is crucial to reduce such errors' recurrence and to learn from events. Therefore, this study aimed to investigate oncology staff's attitudes, perceived barriers, and strategy towards reporting incidents and errors. Methods: A cross-sectional online survey was conducted among health profess...

The clinical behaviors, prognosis, and appropriate treatments of papillary tumors of the pineal region (PTPR) are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with clinical symptoms, including headache with obstructive hydrocephalus, diplopia, vomiting, and lethargy, as well as neurological signs, including Ar...

The Outcome for relapsed NGGCT is poor. Salvage therapy usually consist of reinduction platinum-based chemotherapy regimen followed by high-dose-chemotherapy and autologous-stem-cell-rescue (HDC/AuSCR) and re-irradiation with no consensus on optimal management and usually associated with remarkable toxicity. We present a 12-year-old boy diagnosed w...

Diffuse midline glioma, H3 k27-altered (DMG) is a type of Paediatric- type diffuse high grade gliomas according to the 2021 WHO CNS tumors Classification. Diffuse intrinsic pontine glioma (DIPG) is another acceptable related term when it located in the pons with fatal prognosis. The combination of H3K27M with BRAF V600 mutations rarely reported in...

The 2021WHO CNS tumor classification includes CNS tumors with internal tandem duplications in the BCL6 corepressor (BCOR) gene as a new entity of CNS embryonal tumors labelled high-grade neuroepithelial tumors with BCOR alterations (HGNET-BCOR) are characterized by genetic aberrations in the BCOR gene located at Xp11.4, leading to increased express...

Medulloblastoma MB is the most common childhood CNS tumor treated with intensive multimodalities therapy Surgery, Radiation and Cisplatin chemotherapy which causing significant Hearing impairment (HI) with profound impact on child’s quality of life. METHOD: Retrospective study evaluating risk factors & (HI) incidence in childhood MB survivors treat...

Clinical behaviors, prognosis, and appropriate treatments of PTPR are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with various clinical symptoms with obstructive hydrocephalus, as well as neurological signs including Parinaud’s syndrome. Radiological assessment of pineal region lesions is challenging with a w...

BACKGROUND: The management of childhood central nervous system (CNS) tumors is complex and often faces numerous challenges in low- and middle- income countries (LMICs), including delayed diagnosis and limited treatment resources. Twinning initiatives between LMICs with high- income countries are feasible and proven to be highly effective at exchang...

The clinical behaviors, prognosis, and appropriate treatments of Papillary tumors of the pineal region (PTPR) are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with clinical symptoms including headache with obstructive hydrocephalus, diplopia, vomiting, and lethargy as well as neurological signs including Argyl...

The clinical behaviors, prognosis, and appropriate treatments of Papillary tumors of the pineal region (PTPR) are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with clinical symptoms including headache with obstructive hydrocephalus, diplopia, vomiting, and lethargy as well as neurological signs including Argyl...

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. Recent research findings from molecular genetic analyses have revealed mole...

Background: Psychological impacts among healthcare professionals have increased significantly due to the increasing number of COVID-19 cases. This study aimed to identify stress and coping strategies among healthcare professionals in Saudi Arabia during the COVID-19 outbreak. Subjects and methods: A cross-sectional study online survey was conduc...

Purpose: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals. Patients and methods: Data were collected from patients with confirmed CMMR...

Medulloblastoma (MB) is the most common childhood malignant brain tumor. DNA methylation profiling has rapidly advanced our understanding of MB pathogenesis at the molecular level, MBs can be sub-grouped according to methylation patterns from FPPE samples into Wingless (WNT-MB), Sonic Hedgehog (SHH-MB), Group 3 (G3) and Group 4 (G4) WNT-MB and SHH-...

BACKGROUND Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has systematically evaluated the efficacy of this protocol. METHODS We surveyed all confirmed CMMRD pa...

Pediatric Low Grade Gliomas (PLGGs) display heterogeneity regarding morphology, genomic drivers and clinical outcomes. The treatment modality dictates the outcome and optimizing patient management can be challenging. In this study, we profiled a targeted panel of cancer-related genes in 37 Saudi Arabian patients with pLGGs to identify genetic abnor...

PURPOSE In this case report, we document new recommendations for the treatment of pediatric glioblastoma based on a genetic understanding of the disease. PATIENTS AND METHODS A Saudi girl aged 18 months presented with a history of right sided weakness and partial seizures. MRI revealed the presence of large complex left frontal tumor. Craniotomy a...

Background: Travel burden has a substantial psychosocial impact and financial strain on childhood cancer patients and their families. Aims: To study the geographic distribution of childhood cancer and assess the travel burden for care in Saudi Arabia. Methods: This was a cross-sectional multi-institutional study that enrolled 1657 children wit...

BACKGROUND There is limited data from Saudi Arabia on the demographic characteristics, outcomes and effectiveness of different treatment modalities in children with intracranial ependymoma. OBJECTIVE Study the characteristics of pediatric ependymoma and outcomes of treatment modalities in Saudi Arabia. DESIGN Retrospective. SETTING Tertiary care...

Intrathecal chemotherapy procedures are stressful to patients and caregivers, especially the first time. Providing the patient and caregiver with sufficient information to address their concerns before the scheduled procedure is necessary. This study aims to determine whether the use of video instructions could enhance learning outcomes and decreas...

Background The frequency of pathogenic/likely pathogenic (P/LP) germline mutations in cancer‐related genes among children with cancer in highly consanguineous populations is not well studied. Methods Whole‐exome sequencing of germline DNA was performed in 60 children with acute leukemia. We used the St. Jude Pediatric Cancer Variant Pathogenicity...

Medulloblastoma (MB) is the most common childhood malignant brain tumor and is a leading cause of cancer-related death in children. DNA methylation profiling has rapidly advanced our understanding of MB pathogenesis at the molecular level, but assessments in Saudi Arabian (SA)-MB cases are sparse. MBs can be sub-grouped according to methylation pat...

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...

Pediatric Low Grade Gliomas (PLGGs) display heterogeneity regarding morphology, genomic drivers and clinical outcomes. The treatment modality dictates the outcome and optimizing patient management can be challenging. In this study, we profiled a targeted panel of cancer-related genes in 37 Saudi Arabian patients with pLGGs to identify genetic abnor...

Background: Cancer and its management can cause cachexia, which, along with prolonged immobility could lead to the development of chronic pressure ulcers (PU). These complications result into infection and/or pressure injury. Though pressure injury related tasks, are deemed to be given to staff nurses alone. Little of literature is available on the...

Background: Overwork has grave consequences for staff health either physically or psychologically. Burnout has an impact on health care turnover, patient’s safety, patient satisfaction and patient’s perception towards health professionals. The study aims to assess the prevalence of burnout, a prevalence of psychosocial distress, occupational predic...

Purpose: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is critical to cancer screening and treatment. As genetic diagnosis is confounded by 15 or more pseudoge...

Abstract 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 TP53 that disrupt protein function or stability. While more than 70% of pathogenic variants...

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...

Hereditary Constitutional mismatch repair -deficiency (CMMR-D) caused by biallelic mutations in one or more MMR genes a cancer predisposition syndrome with features of neurofibromatosis type 1, often café-au-lait macule, development of different types of cancers in multiple organs. Given the high rate of consgunity in our population, we measure the...

We present the case of a young boy with MYC-amplified Medulloblastoma. He received multimodal chemotherapy consisting of gross total resection followed by postoperative craniospinal radiation and adjuvant chemotherapy. The patient developed extraneural metastases 4 months after the end of therapy. Literature review identifies the poor prognosis of...

Constitutional biallelic mismatch repair deficiency CMMR-D is a rare childhood cancer predisposition syndrome. Detection of CMMR-D in pediatric HGG is crucial and can improve patient outcome due to the fact that CMMR-D is responsive to immune checkpoint inhibitors like Nivolumab. A 5 years old girl not known to have any medical illness before prese...

Background & aim: Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for HCSS in Saudi Arabia using the American College of Medical Genetics and Genomics (ACMG) guidelines,...

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 tim...

Cardiopulmonary resuscitation can be medically futile and lead to prolonged suffering in some patients with disseminated malignancies. The aim of this study is to identify physicians’ awareness, knowledge, and attitudes towards performing or withholding Cardiopulmonary resuscitation in cancer patients in the Middle East and the process they preferr...

Medulloblastoma (MB) is the most common malignant brain tumor in children. WHO 2016 classify MB into four distinct molecular subgroups. The aim of this study is to characterize the molecular MB subgroups and correlate it with defined clinical outcomes in Middle Eastern children. A retrospective study of newly diagnosed MB in 55 children (>3 year an...

e18218 Background: Oncology patients need to receive their course of treatment in a timely manner. Increasing the efficiency of laboratory testing could potentially improve hospital operations and thus have a positive impact on patient care. One way of doing this is by initiating an installation of a satellite laboratory. The purpose of this study...

Background: Breaking bad news to patients with cancer diagnosis is not an easy task for physicians. The diagnosis must be explicitly stated and understood, and prognosis must be well-discussed in the most gentle and comfortable manner. It is important that the disclosure is performed in a way that patients will not lose all hope and get very depres...

Background: Hospital admission can be scary for a child, most especially for hospitalized pediatric cancer patients, but studies show that there is growing evidence that environmental modification has a great impact in patient experience and health outcomes. Majority of pediatric cancer patients and their family was not satisfied with the unit envi...

Objectives: Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers. This is the first study to characterize the GI phenotype in BMMRD using both retrospec...

High-dose chemotherapy with autologous stem cell rescue (HDC/ASCR) has been used in children under the age of 3 years with embryonal brain tumors to avoid or delay the use of radiation. We reviewed the medical records of 10 Saudi children less than 3 years of age with embryonal brain tumors who underwent HDC/ASCR. All 10 patients underwent surgical...

BACKGROUND: In recurrent neuroectodermal brain tumors leptomeningeal disease manifestation was observed in about 50 to 75% of patients. The role and efficacy of intrathecal therapy in these patients is unclear. As the systemic administration of etoposide is efficacious in brain tumors a phase II study was initiated to evaluate the efficacy and safe...

Multidisciplinary quality improvement project

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline b...

NTRODUCTION: As Central Nervous System tumors account for second most common childhood malignancies, improving treatment modalities can lead to increase the survival rate of patients. The epidemiological investigations make a large-scale database of analysis for prognostic features of this group. In this study, we examined the epidemiology of child...