PMC6473395_01
(A-C) Results of preoperative MRI. Round long T1 and long T2 signal intensities existed in the left cerebellar hemisphere. Iso-T1 and T2 signal intensities of septa were found inside. Enhanced scanning showed annular enhancement in solid portion and no enhancement in cystic portion of the mass. The fourth ventricle was compressed rightward, and became narrow. (D-F) Results of postoperative MRI. The patchy slight enhancement of the left cerebellar hemisphere was in line with the postoperative changes in tumor resection. (G) (200x): HE staining to tumor showed disorderly arrangement of cells. (H,I) (400x): Positive expression of CD 31 and CD 34 detected using immunohistochemistry.
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F1
The head magnetic resonance imaging (MRI, Siemens, Munich, Germany) scan showed a mass in the left cerebellar hemisphere (Figures 1A-F). Technology Co., Ltd., Zhongshan, China) were detected using immunohistochemistry (Figures 1H,I). The postoperative pathological analysis and diagnosis confirmed the diagnosis of HBs.
PMC6473395_02
(A-D) Results of preoperative MRI. Patchy long T1 and long T2 signal intensities existed in the bilateral cerebellar hemispheres and vermis. Solid/cystic confounding signal intensities were observed in the enhanced lesion of right cerebellar hemisphere. The solid portion showed iso-T1 and T2 signal intensities, while cystic portion was long T1 and long T2 signal intensities. Enhanced scanning showed remarkable enhancement in solid portion and no enhancement in cystic portion of the mass. The brain stem was compressed, and the fourth ventricle became narrow. The supratentorial ventricle system expanded, with the tonsillar hernia intruded into the spinal canal. The central canal of the cervical cord expanded and strip-shaped long T1 and long T2 signal intensities was found at the level of C2-C6. (E-H): Results of postoperative MRI. The initial lesion signals reduced. The solid/cystic lesions in the right cerebellar hemisphere and punctate enhancement lesions in the left cerebellar hemisphere were not shown clearly. The fourth ventricle enlarged. The cerebellar tonsillar did not develop into the spinal canal. A strip-shaped long T1 signal intensity still existed in the cervical cord. (I) (200x):HE staining to tumor showed disorderly arrangement of cells. (J,K) (400x): Positive expression of CD 31 and CD 34 detected using immunohistochemistry.
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F2
MRI indicated multiple masses in the cerebellum and spinal cord (Figures 2A-H). Multiple cysts were found on the right kidney with B-mode ultrasound. The detection of H&E staining (Figure 2I) and immunohistochemistry (Figures 2J,K) was the same as Case 1.
Patients' family pedigree for RNF139. Family numbers and disease-causing variant is noted above pedigree. Normal individuals are shown as clear circles (females) and squares (males). The patient above the arrow indicates the proband (IV.1).
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F3
This family pedigree was shown in Figure 3.
(A) Results of NGS (RNF139 p.Q650R). (B) Results of Sanger sequencing. The sequencing results in IV.1 and III.4 is RNF139 mutant homozygous type, while in III.2, III.3, and III.5 is wild type. The yellow region indicates the duplication at the nucleotide position for RNF139 gene NM_007218.
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F4
Only this mutation was interpreted as pathogenic variation (PVS1, PS1) with ACMG guideline (Figure 4A). The locus of the girl's mother, uncle and aunt were all in the wild type (Figure 4B).