＜論文紹介：AJNR 2020;41(5):852-858.他＞

神経放射線診断学において、American Journal of Neuroradiology (AJNR)がとても役立ちますよ、ということを以前お話ししましたが、最新号(2020; Volume 41,Issue 5)から、下記3論文を紹介します。

「MRI Signal Intensity and Electron Ultrastructure Classification Predict the Long-Term Outcome of Skull Base Chordomas. (AJNR 2020;41(5):852-858.)」

中国発の論文で、脊索腫のelectron microscopic featuresがMRI信号強度と予後にどのような影響を与えているかを検討しています。
従来よくなされているradiological pathological correlationではなく、electron microscopic featuresとのcorrelationというのが目新しいです。

「Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome. (AJNR 2020;41(5):904-910.)」

Constitutional mismatch repair deficiencyの神経放射線画像の検討です。

Constitutional mismatch repair deficiency is a hereditary childhood cancer predisposition syndrome characterized by brain tumors and colorectal and hematologic malignancies.
On brain MR imaging, these patients have both highly characteristic intra-axial tumors (typically multifocal high-grade gliomas) and nonspecific findings, some of which might represent early stages of neoplastic transformation. The incidence of developmental venous anomalies is high in these patients for unclear reasons.

「The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders. (AJNR 2020;41(5):917-922)」

POLG-related disordersの神経放射線画像では、特徴的なPerirolandic Signを呈しうるという論文です。

Polymerase γ (Polγ) is the only DNA polymerase active during human mitochondrial DNA (mtDNA) genome replication.
Pathogenic variants in the polymerase γ gene (POLG) cause a diverse group of pathologies known as POLG-related disorders.
The most common imaging findings were unilateral or bilateral perirolandic (54%) and unilateral or bilateral thalamic signal changes (77%).
Perirolandic signal changes and seizures may represent a brain imaging biomarker of early-onset pediatric POLG-related disorders.