Evaluation of KIAA1549::BRAF fusions and clinicopathological insights of pilocytic astrocytomas.

BACKGROUND: Pilocytic astrocytoma (PAs) represents a significant portion of childhood primary brain tumors, with distinct histological and radiological features. The prevalence of KIAA1549::BRAF fusion in PAs has been well-established, this study aims to assess the prevalence of KIAA1549::BRAF fusions and explore their associations with tumor characteristics, radiological findings, and patient outcomes in PAs. METHODS: Histologically confirmed cases of PAs from a 5-year period were included in the study. Demographic, histopathological, and radiological data were collected, and immunohistochemistry was performed to characterize tumor markers. FISH and qRT-PCR assays were employed to detect KIAA1549::BRAF fusions. Statistical analyses were conducted to examine associations between fusion status and various other parameters. RESULTS: Histological analysis revealed no significant differences in tumor features based on fusion status. However, younger age groups showed higher fusion prevalence. Radiologically, fusion-positive cases were distributed across different tumor subtypes SE, CWE and NCWE. Survival analysis did not demonstrate a significant impact of fusion status on overall survival, however most cases with recurrence and death harboured KIAA1549::BRAF fusion. Of 200 PAs, KIAA1549::BRAF fusions were detected in 64 % and 74 % of cases via qRT-PCR and FISH, respectively. Concordance between the two platforms was substantial (86 %). CONCLUSION: KIAA1549::BRAF fusions are prevalent in PAs and can be reliably detected using both FISH and qRT-PCR assays. Cost considerations suggest qRT-PCR as a more economical option for fusion detection in routine clinical practice.

Imaging feature of Leukoencephalopathy with calcifications and cysts (Labrune syndrome).

Labrune syndrome is an uncommon CNS disorder characterized by leukoencephalopathy, cerebral calcifications, and cysts on brain imaging. The basic pathology is microangiopathy resulting from a mutation in the SNORD118 gene. Radiological imaging is the hallmark of the disease.

Cortical malformation adjacent to a large pial arteriovenous fistula.

The coexistence of an arteriovenous fistula (AVF) and neuronal migration abnormalities is a rare phenomenon. The underlying pathophysiology responsible for these anomalies remains elusive. Neuronal architectural irregularities arise from complex neuronal formation, migration and organisation dysfunctions. Isolated cases of these associations are rarely described in the literature. Here, we present an unusual case involving the coexistence of a pial AVF and a pachygyria-polymicrogyria complex in an early childhood boy. We have provided a detailed description of the neuroimaging characteristics and the therapeutic embolisation in this case, along with follow-up. Additionally, we conduct a comprehensive review of potential hypotheses about the association, referencing prior case reports. The presence of an aberrant blood supply or deviant venous drainage from the developing cortex may contribute to a variety of neuronal migration anomalies.

Reconstructive endovascular treatment of petrous ICA pseudoaneurysm in skull base osteomyelitis: a hidden catastrophe.

Skull base osteomyelitis can be more life-threatening in immunocompromised patients and patients with diabetes. Here, we present a case of a petrous internal carotid artery pseudoaneurysm resulting from skull base osteomyelitis in a diabetic male in his 50s. This case report highlights the need to be conscious of the various complications associated with skull base osteomyelitis, be proficient in detecting them and treat them as early as possible for better outcomes. After adequate control of the disease process with medical treatment, immediate management of the aneurysm with balloon angioplasty and stenting was done. Acknowledging the trivial nasal and ear bleed, radiological evaluation is necessary to rule out rare complications like pseudoaneurysms in a diagnosed case of skull base osteomyelitis. In the discussion, we have cited the various treatment methods and similar cases of pseudoaneurysm caused by osteomyelitis. Currently, the patient continues to live a disease and disability-free life.

Nonbifurcating carotid artery-embryological scrutiny, intriguing associations, and review of literature.

Nonbifurcating carotid is quite a rare anatomical variant of carotid anatomy. The embryology of carotid development is more intricate and convoluted than is presently known. This case report finds an unusual case of a nonbifurcating carotid artery whose embryological basis cannot be explained by popular prevalent theories. It also stresses about an abundance of case reports from East Asia on this topic, to the best of the authors' knowledge. The formation of atherosclerotic plaque requires more than abnormal fluid hemodynamic, which has been briefly pointed out.