case_images: PMC10505807_01
case_images: Preoperative MRI (A-F) demonstrated a 3 cm x 2 cm x 1.5 cm mass located in the right basal ganglia and thalamus, protruding into the right lateral ventricle. It was mixed isointense-to-hyperintense on T2WI (A) and T2 dark-fluid imaging (B). Hyperintense signals were shown by DWI (C), and inverse signals were indicated by the ADC (D). The tumour showed heterogeneous enhancement after gadolinium administration (E,F). Postoperative CT (G) and MRI 4 weeks after transfrontal-temporal craniotomy (H,I) suggested that the tumour was completely resected without signs of recurrence.
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case_images: PMC10505807_01_fped-11-1237572-g001.jpg
case_images: F1
case_images: Mixed isointense-to-hyperintense signals were shown on T2-weighted imaging (T2WI) (Figure 1A) and T2 dark-fluid imaging (Figure 1B), and hyperintense signals were observed on diffusion-weighted imaging (DWI) (Figure 1C); inverse signals were indicated by the apparent diffusion coefficient (ADC) (Figure 1D). After gadolinium administration, heterogeneous enhancement was observed, and a cyst was detected in the centre of the mass (Figures 1E-G). Postoperative MRI showed gross total resection (Figures 1H,I).
case_images: Haematoxylin and eosin-staining showed a large number of rhabdoid cells with eccentric nuclei, prominent nucleoli and eosinophilic cytoplasm (A,B). Immunohistochemical examination demonstrated INI-1 loss (C).
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case_images: PMC10505807_01_fped-11-1237572-g002.jpg
case_images: F2
case_images: Microscopic examination showed that the tumour comprised rhabdoid cells with eccentric nuclei, prominent nucleoli and eosinophilic cytoplasm (Figures 2A,B). Immunohistochemical examination indicated that the Ki-67 index was 80%, and INI-1 protein expression was deficient (Figure 2C).
case_images: NGS demonstrated that the copy numbers of the SMARCB1 gene (A) and CDK6 gene (B) were 0.84 and 3.03, respectively.
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case_images: PMC10505807_01_fped-11-1237572-g003.jpg
case_images: F3
case_images: SMARCB1 gene mutation was exon 9 c.1130G > A p.R377H; the mutation abundance was 41.52%, which would dramatically reduce the combination of the C-terminal domain (CTD) of the SMARCB1 subunit, resulting in loss of functional proteins. SMARCB1 gene deficiency was also detected, and the copy number was 0.84 (Figure 3A). Moreover, we found that the CDK6 gene was amplified, with a copy number of 3.03 (Figure 3B).
case_images: Timeline.
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case_images: PMC10505807_01_fped-11-1237572-g004.jpg
case_images: F4
case_images: Unfortunately, the patient died owing to respiratory and circulatory failure arising from pulmonary infection and hydrocephalus 5 weeks after the operation (Figure 4).