case_images: PMC8716851_01
case_images: Pre-operative T2-weighted (A), T2-FLAIR weighted (B), and enhanced axial, coronal, sagittal T1-weighted (C, D) magnetic resonance images showed a heterogeneously enhancing solid mass in pineal gland region, extending into the bilateral thalamus and obliterating the third ventricle, with ventriculomegaly. A flow chart showcased the timeline with relevant data from the episode of care (E).
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case_images: Magnetic resonance imaging (MRI) further confirmed a heterogeneously enhancing lobulated mass extending into the bilateral thalamus and obliterating the third ventricle, with associated ventriculomegaly ( Figures 1A-D ). Then she proceeded to have an unremarkable hospital course and was discharged soon ( Figure 1E ).
case_images: H&E-stained sections showed the tumor was comprised of atypical glial tumor cells with vascular proliferation and necrosis (A). Mitotic figures and perivascular pseudorosettes were easily identified (B). Immunohistochemical sections presented positive expression of P53 (C, ZM-0408, ZSGB-BIO), CD99 (D, ZM-0296, ZSGB-BIO), GFAP (E, MXB Biotechnologies), Syn (F, ZA-0506, ZSGB-BIO), Olig-2 (G, ZA-0561, ZSGB-BIO), IDH1 (H, ZM-0447, ZSGB-BIO) and negative expression of ATRX (J, ZA-0016, ZSGB-BIO) in the tumor. The Ki-67 proliferative index was 30-40% (I, H10501, Ventata). In addition, TERT (K, TA301588, ZSGB-BIO) was substantially expressed in the tumor.
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case_images: H&E-stained sections showed high density of tumor cells with elevated mitotic activity, vascular proliferation, necrosis with pseudopalisading, and perivascular pseudorosettes ( Figures 2A, B ). Immunohistochemical staining was performed and demonstrated that the tumor cells expressed P53 ( Figure 2C ), CD99 ( Figure 2D ), GFAP (glial fibrillary acidic protein,  Figure 2E ), synaptophysin (Syn,  Figure 2F ), Olig-2 ( Figure 2G ), and IDH1 ( Figure 2H ). The Ki-67 proliferative index was high, approximately 30-40% ( Figure 2I ). In addition, the ATRX was negatively expressed in tumor cells ( Figure 2J ).
case_images: Copy number variation (CNV) of the TERT gene was high in the whole genome (A). TERT gene was amplified 8.94-fold on chromosome 5 (A). Next generation sequencing (NGS) revealed significant TERT gene rearrangement (B), including multiple TERT (Exon16-2)-NUBPL (Exon4-11) (C), MARCH6 (Exon1-25)-TERT (Intergenic) (D), and CJD4 (Intergenic)-TERT (Exon10-16) (E) fusions.
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case_images: CJD4 (Intergenic)-TERT (Exon10-16),  Figure 3 ] and also FGFR2 fusions [CXCL17 (Intergenic)-FGFR2 (Exon16-18), SIPA1L3 (Exon1-4)-FGFR2 (Exon16-18), FGFR2 (Exon1-16)-SIPA1L3 (Exon4-1), and FGFR2 (Exon1-16)-CEACAM1 (Intergenic),  Figure 4 ], both of which were rarely reported previously. CDKN2A/CDKN2B loss, TP53 mutation (p.H179R), and 19q chromosome deletion were also positive (data not shown).
case_images: Next generation sequencing (NGS) revealed significant FGFR2 gene rearrangement (A), including multiple CXCL17 (Intergenic)-FGFR2 (Exon16-18) (B), SIPA1L3 (Exon1-4)-FGFR2 (Exon16-18) (C), FGFR2 (Exon1-16)-SIPA1L3 (Exon4-1) (D) and FGFR2 (Exon1-16)-CEACAM1 (Intergenic) (E) fusions.
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case_images: CJD4 (Intergenic)-TERT (Exon10-16),  Figure 3 ] and also FGFR2 fusions [CXCL17 (Intergenic)-FGFR2 (Exon16-18), SIPA1L3 (Exon1-4)-FGFR2 (Exon16-18), FGFR2 (Exon1-16)-SIPA1L3 (Exon4-1), and FGFR2 (Exon1-16)-CEACAM1 (Intergenic),  Figure 4 ], both of which were rarely reported previously. CDKN2A/CDKN2B loss, TP53 mutation (p.H179R), and 19q chromosome deletion were also positive (data not shown).