ABSTRACT
Primary myelofibrosis (PMF) is a clonal myeloproliferative neoplasm driven by canonical gene mutations in JAK2, CALR, or MPL in >80% of the cases. PMF that lacks these canonical alterations is termed triple-negative PMF (TN-PMF). The pathologic and genetic characteristics of TN-PMF compared with those of conventional PMF with canonical driver mutations (DM-PMF) have not been well studied. We aimed to identify clinicopathologic and molecular genetic differences between patients with TN-PMF (n = 56) and DM-PMF (n = 89), all of whom fulfilled the 2016 World Health Organization diagnostic criteria for PMF. Compared with the control group, patients in the TN-PMF group were more likely to have thrombocytopenia and less likely to have organomegaly. The bone marrow in patients with TN-PMF showed fewer granulocytic elements and more frequent dyserythropoiesis. Cytogenetic analysis showed a higher incidence of trisomy 8. Targeted next-generation sequencing revealed a lower frequency of ASXL1 mutations but enrichment of ASXL1/SRSF2 comutations. Our findings demonstrated several clinicopathologic and molecular differences between TN-PMF and DM-PMF. These findings, particularly the observed mutation profile characterized by a higher frequency of ASXL1 and SRSF2 comutation, suggest that at least a subset of TN-PMF may be pathogenetically different from DM-PMF, with potential prognostic implications.
Subject(s)
Myeloproliferative Disorders , Primary Myelofibrosis , Humans , Bone Marrow/pathology , Primary Myelofibrosis/genetics , Primary Myelofibrosis/pathology , Myeloproliferative Disorders/genetics , Mutation , Prognosis , Janus Kinase 2/genetics , Transcription Factors/geneticsABSTRACT
OBJECTIVE: To conduct a cross-sectional analysis of the demographical, etiological, clinical pattern, and the outcome of pediatric burn injuries. METHODS: A cross-sectional study of 459 pediatric burn patients admitted to Al-Noor Specialist Hospital in Makkah, Saudi Arabia from January 2008 to December 2010 were evaluated using a structured questionnaire. RESULTS: The mean age was 5.97, and the male to female ratio was 1.5:1. The most common cause was scalding (81.7%). Approximately 92.8% of patients had burn injuries involving 25% of the total body surface area, or less. The mean hospital stay was 9.51 days. Approximately 92% of patients were treated conservatively. CONCLUSION: Toddlers are at high risk of having scald burns. We also noted the number of admissions is increasing every year. Therefore, an effective scientific based prevention program is required.
