Pediatric Myelodysplastic Syndrome with SF3B1 Mutation.

OBJECTIVES: Patients with Fanconi Anemia (FA) have an increased risk of developing myeloid malignancies, which often precede the diagnosis of FA. We describe a patient with non-specific clinical findings diagnosed with myelodysplastic syndrome (MDS) at 17 years of age. A pathogenic SF3B1 alteration was identified and prompted evaluation for a bone marrow failure syndrome. Chromosomal breakage testing demonstrated an increase in breakage and radial formation; a targeted FA molecular panel identified variants of unknown significance in FANCB and FANCM. To date, reports of pediatric patients, with or without a co-morbid diagnosis of FA, diagnosed with MDS with SF3B1 alteration are rare. We describe a patient with FA diagnosed with MDS with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD, WHO revised 4th edition) with an associated SF3B1 alteration and discuss the new classifications of this entity. In addition, as the knowledge around FA grows, so too does the knowledge about genes associated with FA. We present a novel variant of unknown significance in FANCB, to add to the growing body of literature about genetic alterations identified in individuals with a clinical picture most in keeping with FA.

The emerging therapeutic potential of extracellular vesicles in trauma.

Traumatic injury is a major cause of morbidity and mortality worldwide, despite significant advances in treatments. Most deaths occur either very early, through massive head trauma/CNS injury or exsanguination (despite advances in transfusion medicine), or later after injury often through multiple organ failure and secondary infection. Extracellular vesicles (EVs) are known to increase in the circulation after trauma and have been used to limited extent as diagnostic and prognostic markers. More intriguingly, EVs are now being investigated as both causes of pathologies post trauma, such as trauma-induced coagulopathy, and as potential treatments. In this review, we highlight what is currently known about the role and effects of EVs in various aspects of trauma, as well as exploring current literature from investigators who have begun to use EVs therapeutically to alter the physiology and pathology of traumatic insults. The potential effectiveness of using EVs therapeutically in trauma is supported by a large number of experimental studies, but there is still some way to go before we understand the complex effects of EVs in what is already a complex disease process.

Fibrous dysplasia.

An atypical presentation of fibrous dysplasia with a very large cystic component is described. The MR pattern was not diagnostic.

Orbital meningioma after cranial radiation for acute lymphocytic leukemia.

PURPOSE: To describe the ophthalmic findings of cranial radiation-induced orbital meningioma after acute lymphocytic leukemia therapy. METHODS: This is a prospective clinical report. RESULTS: We describe two patients recently evaluated with orbital meningiomas many years after cranial radiation for acute lymphocytic leukemia. CONCLUSIONS: There will probably be more of these cases in the next several years. Unlike primary meningiomas, these neoplasms have a tendency to be more diffuse, multiple, and may undergo malignant degeneration.