H3G34-Mutant Gliomas-A Review of Molecular Pathogenesis and Therapeutic Options.

The 2021 World Health Organization Classification of Tumors of the Central Nervous System reflected advances in understanding of the roles of oncohistones in gliomagenesis with the introduction of the H3.3-G34R/V mutant glioma to the already recognized H3-K27M altered glioma, which represent the diagnoses of pediatric-type diffuse hemispheric glioma and diffuse midline glioma, respectively. Despite advances in research regarding these disease entities, the prognosis remains poor. While many studies and clinical trials focus on H3-K27M-altered-glioma patients, those with H3.3-G34R/V mutant gliomas represent a particularly understudied population. Thus, we sought to review the current knowledge regarding the molecular mechanisms underpinning the gliomagenesis of H3.3-G34R/V mutant gliomas and the diagnosis, treatment, long-term outcomes, and possible future therapeutics.

Pineal Cyst Apoplexy in an 8-Year-Old Girl: Case Report and Literature Review.

BACKGROUND: Pineal cysts are common, typically asymptomatic, and are usually found incidentally in adults. In rare cases, pineal cyst apoplexy occurs as a result of an acute cystic hemorrhage. This situation can result in acute onset of severe headaches, acute obstructive hydrocephalus, mass effect on the midbrain, and even death. Pineal apoplexy is most common in women of reproductive age, whereas pediatric cases continue to be less prevalent. Pineal cyst apoplexy remains a rare entity with ≥30 cases presented in the literature to date. CASE DESCRIPTION: We present the youngest case in the literature (an 8-year-old girl with a pineal cyst that resulted in apoplexy), her diagnostic workup, management, and follow-up. We supplement our case study with a literature review of pineal cyst apoplexy. CONCLUSIONS: Pineal cyst apoplexy remains a rare clinical event in the pediatric population. Our case details the diagnosis and management of an 8-year-old girl with pineal cyst apoplexy. We also discuss our findings from our literature search for all reported cases of pineal cyst apoplexy.

Transplacental transmission of metastatic melanoma to the posterior fossa. Case report.

The authors describe the first documented case of transplacental transmission of metastatic melanoma to the neuraxis. The patient was a 7-month-old boy who presented with signs and symptoms of elevated intracranial pressure. Magnetic resonance imaging revealed an inhomogeneously enhancing posterior fossa mass measuring 5 x 5 x 6 cm and filling the fourth ventricle. A posterior fossa craniotomy was performed. Pathological studies confirmed the presence of a metastatic melanoma that was pathologically identical to that of his mother. The boy received aggressive chemotherapy and underwent an additional resection. He also required a ventriculoperitoneal shunt for treatment of his hydrocephalus. He lived longer than any other patient with transplacental transmission of metastatic melanoma but ultimately died of the disease, 18 months after his initial presentation.