PMC8143433_01
Graphic summary of case. Fibrous meningioma. Hematoxylin-eosin. Low-magnification images showing that tumor cells are ovoid and arranged in bundles and swirls (A). High-magnification images showing that tumor cells are arranged in bundles and swirls, with focal fibrous proliferation. The tumor cells are ovoid and short fusiform, with a non-mitotic phase (B). Chordoid Glioma. Hematoxylin-eosin. Low-magnification images showing tumor tissue on the left and brain tissue on the right, and part of the boundary between the two is unclear. Tumor cells are arranged in chords, clusters, and crack, with mucus, lymphocytes, and plasma cells in the stroma (C). The tumor cells are arranged in cords of epithelioid and nest, with a mucus, lymphocytes and plasma cells in the stroma (D). The tumor cells are fairly uniform, with plenty of cytoplasm, eosinophilic, and medium nucleus, most were in a non-mitotic phase, with mucus, lymphocytes, and plasma cells in the stroma (E). Immunohistochemical. Immunostaining GFAP demonstrated cytoplasmatic diffuse and strong expression in tumor cells (F); CD34 showed cytoplasmatic positivity in tumor cells (G); TTF-1 showed nuclear positivity in most cells (H); Ki-67 showed slight nuclear positivity in cells and a low proliferation index 5% (I). Original magnification: (A,C,D,F-H) x40; (E,I) x100; (B) x200. GFAP, glial fibrillary acidic protein; TTF-1, transcription termination factor 1. Image examination. T1-weighted axial (J), sagittal (K), and coronal (L) scans showing that the discontinuity of the right parietal bone, local patchy artifacts, the bilateral lateral ventricle, and the third ventricle were obviously dilated; the scans also show, clumpy long T1 signal shadows in the right lateral ventricle and third ventricle, with clear boundaries. The size was ~ 4.0 x 4.5 x 5.5 cm, the small piece of the long T1 signal shadow can be observed locally, and the boundary was unclear. The boundary between the lower part of the lesion and brainstem was unclear, and the brainstem was obviously compressed. Enhanced scan showed that the tumor exhibited heterogeneous enhancement (M-O). The tumor showed a high-low mixed signal on the T2-weighted axial scan (P). T2-Flair axial scan showed a slightly hyperintense signal shadow on the tumor (Q). Early post-operative CT scan showed that most of the tumor tissue was removed. The removed part was filled with cerebrospinal fluid, and part of the tumor wall remained (R). CT, computed tomography; Flair, Fluid-attenuated inversion recovery.
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F1
The clinical diagnosis was meningioma. The tumor was completely resected microsurgically through the right frontal top approach, and a post-operative pathological diagnosis of meningioma was reached (fibrous, WHO I) (Figures 1A,B). The patient recovered well following surgery, with no complications, and did not receive radiotherapy or chemotherapy. T1W1 showed a slightly lower signal, and T2W1 showed a slightly increasing signal, with heterogeneous contrast enhancement, accompanied by obstructive hydrocephalus (Figures 1J-Q). Thus, subtotal resection was performed (Figure 1R), and post-operative pathological examination confirmed the CG of the third ventricle (WHO II) (Figures 1C-E). Immunohistochemical analysis was characterized by strong reaction to GFAP, and there was expression of CD34, transcription termination factor-1(TTF-1), vimentin, and epithelial membrane antigen (Figures 1F-J). The Ki-67 proliferation index was lower than normal (5.0%) (Figure 1I). The metabolic disorder of sodium ion was particularly obvious, with hypernatremia (155.1 mmol/L) in the early stage which became hyponatremia (123.9 mmol/L) at 1 week after surgery (Supplementary Figure 1).
(A,B) Whole-exome sequencing. Known driver gene mutation analysis indicated the missense mutations of TRAF7 in the meningioma and PRKCA
D463H in the chordoid glioma. PRKCA, protein kinase C alpha; TRAF7, TNF receptor associated factor 7.
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F2
Consistent with previously reported cases, the meningioma in this patient harbored a mutation on chromosome 16. A C>T transversion mutation in the TRAF7 gene was identified, causing a c.1991C>T, p.T664I substitution (reference transcript NM_032271.2). CG harbored a mutation on chromosome 17, a G>C transversion mutation in the protein kinase C alpha (PRKCA) gene was identified, causing a c.1387G>C, p.D463H substitution (reference transcript NM_002737.2) (Figure 2).