Combined Autoimmune Cytopenias Presenting in Childhood.

BACKGROUND: Pediatric patients with chronic and/or refractory autoimmune multi-lineage cytopenias present challenges in both diagnosis and management. Increasing availability of diagnostic testing has revealed an underlying immune dysfunction in patients previously diagnosed with Evans Syndrome. However, the data are sparse and the majority of patients are adults. PROCEDURE: We performed a retrospective chart review to document the natural history of 23 pediatric patients with autoimmune multi-lineage cytopenias followed at three tertiary care pediatric hematology clinics. RESULTS: Investigations revealed seven patients (30.4%) with an autoimmune lymphoproliferative-like syndrome and six patients (26.1%) with other primary immunodeficiencies. Only one (4.3%) patient was suspected to have systemic lupus erythematosus and six patients (26.1%) had other types of autoimmunity. Treatment consisted of immunosuppressive therapy, intravenous gammaglobulin, and splenectomy. Supportive care included granulocyte-colony stimulating factor, and blood product transfusions. Two patients (8.7%) died. Complete remission was achieved in 3 patients (13.0%); of the remaining, 14 patients (60.9%) had chronic immune thrombocytopenic purpura, 10 patients (43.5%) chronic autoimmune neutropenia, and 4 patients (17.4%) chronic autoimmune hemolytic anemia with a median follow up of 5 years (2 months-12 years). CONCLUSIONS: These data suggest that pediatric patients presenting with autoimmune multi-lineage cytopenias should undergo investigation for underlying immune dysregulation, including autoimmune lymphoproliferative syndrome, other primary immunodeficiencies and autoimmune disorders. The development of an international registry for such patients is imperative to improve the understanding of their complex natural history.

Promise of Real-World Evidence for Patient Centricity in Gulf Cooperation Council Countries: Call to Action.

Presently, Gulf Cooperation Council countries are lagging in the generation of real-world data and use of real-world evidence for patient-centered care compared with the global average. In a collaborative effort, experts from multiple domains of the healthcare environment from the Gulf Cooperation Council countries came together to present their views and recommended key action points for the generation of robust real-world data and leveraging real-world evidence in the countries. The opinions of the experts are presented, along with existing barriers to the effective generation of real-world evidence in the countries. The Gulf Cooperation Council countries are undergoing transformative changes paving the way for improved healthcare measures; however, the challenges in generating reliable, robust, accessible, and secure real-world evidence are persistent. Hence, ongoing public-private engagements, as well as collaborations between regulators, policymakers, healthcare professionals, insurance and pharmaceutical companies, and patients, are warranted. A few notable examples of real-world evidence studies highlighting the benefits of real-world evidence for gaining valuable insights into patient-centric decision making are also discussed. The actionable steps identified for successful real-world evidence generation would provide long-term, real-world evidence-based patient-centric benefits for the countries.

Neuroblastoma Among Omani Children: Clinical characteristics and survival outcome from a dedicated centre.

OBJECTIVES: A limited number of publications from the Middle East have focused on neuroblastoma, a common childhood malignancy. This study describes the clinical characteristics and survival outcome of Omani children with neuroblastoma treated at the National Oncology Centre, Oman, between 2010 and 2017. METHODS: From January 2010 to December 2017, data on Omani children aged less than 13 years with neuroblastoma were retrospectively collected. Survival data were statistically correlated with known prognostic factors, including age, stage of disease, MYCN profile and presence of metastasis. RESULTS: A total of 56 Omani children were included. in this study. The male to female ratio was 1:1. The mean age at presentation was one year and 10 months. The two most common presenting complaints were body masses (48.2%) and constitutional symptoms (33.9%). Approximately, 54.5% were high risk, 35.7% were intermediate risk and 9.8% were low risk. High-risk neuroblastoma was mainly found in children older than one year (76.6%), with low risk mainly observed in children less than one year of age (80%). The overall survival of all groups combined was 74% (P <0.05); the event-free survival (EFS) was 67% (P <0.05). The overall survival rates over five years for the high-risk, intermediate-risk and low risk groups were 60%, 88% and 100%, respectively, and the EFS was 51%, 79% and 100%, respectively. CONCLUSION: Omani children with neuroblastoma mainly presented with masses or constitutional symptoms and had an advanced disease at presentation which was associated with inferior survival. The survival outcomes were reasonably similar to published international data.

A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report.

New groups of high-grade neuroepithelial tumours (HGNET) have emerged from the reclassification of central nervous system (CNS) embryonal tumours that have recognised CNS HGNET with BCOR alteration (CNS HGNET-BCOR). We report a two-year, nine-month-old Omani boy who presented to the Royal Hospital, Muscat, Oman, in 2015 with subacute head tilting and neck pain. A well-defined cerebellar lesion was found and he was treated with standard chemoradiotherapy. After a relapse at the age of five years, molecular testing revealed a BCOR alteration. He was treated with further surgery and high-dose chemotherapy; unfortunately, he relapsed and died three years after he was diagnosed.

Hepatoblastomas in Oman: Unveiling success.

OBJECTIVES: Primary malignant liver tumours account for more than 1% of all paediatric malignancies, with the most common form being hepatoblastomas (HB). Such malignancies among Arab populations have rarely been addressed in the literature. Using data from Oman's sole national referral centre for childhood solid malignancies, this study aimed to present the nationwide Omani experience with HB over the past 21 years. METHODS: This retrospective study reviewed the medical records of all children with HB who were managed in the Royal Hospital, Muscat, Oman, between January 1991 and April 2012. Clinical, radiological and laboratory characteristics were examined as well as treatments and outcomes. RESULTS: During the study period, 15 patients with HB were treated. Of these, 10 have survived to date. Nine of the survivors were no longer receiving treatment and one patient still had the disease but was in a stable condition. Of the remaining five patients, three did not survive and two were lost to follow-up. The survival rate among patients who completed therapy was 91%. CONCLUSION: HB has an excellent prognosis in Oman. The main obstacle to improving outcomes among Omani patients is non-compliance with therapy.