Harmonization of postmortem donations for pediatric brain tumors and molecular characterization of diffuse midline gliomas.

Children diagnosed with brain tumors have the lowest overall survival of all pediatric cancers. Recent molecular studies have resulted in the discovery of recurrent driver mutations in many pediatric brain tumors. However, despite these molecular advances, the clinical outcomes of high grade tumors, including H3K27M diffuse midline glioma (H3K27M DMG), remain poor. To address the paucity of tissue for biological studies, we have established a comprehensive protocol for the coordination and processing of donated specimens at postmortem. Since 2010, 60 postmortem pediatric brain tumor donations from 26 institutions were coordinated and collected. Patient derived xenograft models and cell cultures were successfully created (76% and 44% of attempts respectively), irrespective of postmortem processing time. Histological analysis of mid-sagittal whole brain sections revealed evidence of treatment response, immune cell infiltration and the migratory path of infiltrating H3K27M DMG cells into other midline structures and cerebral lobes. Sequencing of primary and disseminated tumors confirmed the presence of oncogenic driver mutations and their obligate partners. Our findings highlight the importance of postmortem tissue donations as an invaluable resource to accelerate research, potentially leading to improved outcomes for children with aggressive brain tumors.

An unusual case of fatty posterior mediastinal ganglioneuroma.

Ganglioneuromas, which arise from neural crest cells, are typically seen in adolescent and young adults. We describe an unusual case of posterior mediastinal ganglioneuroma with a large fatty component in a middle-aged male. This imaging feature has only been reported in five published manuscripts in the English literature.

Disseminated Balamuthia mandrillaris Infection.

Balamuthia mandrillaris is a rare cause of human infection, but when infections do occur, they result in high rates of morbidity and mortality. A case of disseminated Balamuthia infection is presented. Early diagnosis and initiation of recommended therapy are essential for increased chances of successful outcomes.

Granulomatous enterocolitis secondary to Yersinia in an 11-year-old boy from Puerto Rico, confirmed by PCR: a case report.

We report the case of an 11-year-old boy without any history of systemic illness and who developed fever and chills and experienced a 10 lbs. weight loss 3 weeks prior to admission. Two days before admission, he experienced abdominal pain that became localized to the right lower quadrant within 24 hours. A non-enhanced abdominal computed tomography scan revealed a 5 mm, amorphous, hyperdense, right lower quadrant calcification associated with a 9 mm fluid-filled structure. An exploratory laparotomy revealed thickening of the proximal vermiform appendix extending to the cecum, with mesenteric adenopathy. An en-bloc excision of the distal ileum, cecum, mesocolon, and vermiform appendix with an end-to-end ileo-ascending colon anastomosis was performed because of a suspected neoplasm. Pathologic examination of the specimen revealed granulomatous enterocolitis with associated acute suppurative appendicitis and a cecum abscess. Polymerase chain reaction analysis of a paraffin-embedded tissue block confirmed Yersinia enterocolitica DNA in the tissue, pointing to Yersinia as being the etiologic microbe. To our knowledge, this is the first case of yersiniosis to be reported in Puerto Rico.

Intraneural perineurioma of the sciatic nerve: an under-recognized nerve neoplasm with characteristic MRI findings.

Intraneural perineurioma is a benign peripheral nerve neoplasm that typically affects teenagers and young adults and tends to result in a motor-predominant neuropathy. The lesion is rare, but has likely been underdiagnosed due to a lack of familiarity among both clinicians and radiologists. There have been few reports in the radiology literature despite the lesion having a fairly characteristic imaging appearance. We report a case of a 26-year-old woman with an intraneural perineurioma of the left sciatic nerve confirmed with excisional biopsy and pathologic analysis.