Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis
<p>Infiltration in classical PXA cases. (<b>A</b>–<b>C</b>) Case 1 depicts the classical histological features of PXA: (<b>A</b>) a solid cellular region displaying both spindle and pleomorphic cells, accompanied by focal lymphocytic clusters, eosinophilic granular (upper inset), and pale bodies (lower inset); (<b>B</b>) an infiltrative component with entrapped neurons; and (<b>C</b>) a GFAP immunostain of the neoplastic cells accentuates lengthy, thick processes with pronounced staining. (<b>D</b>–<b>I</b>) Case 2 with prominent infiltrative component. (<b>D</b>–<b>F</b>) Initial resection presents features synonymous with infiltrative astrocytoma: (<b>D</b>) a broad view of the infiltrative glial neoplasm, highlighting a focal cellular zone; (<b>E</b>) the region with heightened cellular activity exhibits oval neoplastic cells against a fibrillary background; and (<b>F</b>) an infiltrative component is displaying similar neoplastic cells in less dense cellular regions. (<b>G</b>–<b>I</b>) Case 2 recurrence with classical PXA features: (<b>G</b>) a dense cellular region interspersed with sporadic pleomorphic cells, where the neoplastic cells exhibit large eosinophilic cytoplasm; (<b>H</b>) a section with focal lymphocytic infiltration; and (<b>I</b>) abundance of eosinophilic granular bodies at the infiltrative edge (higher magnification in the inset). Scale bars: 200 µm (<b>A</b>–<b>C</b>,<b>E</b>–<b>I</b>), 2 mm (<b>D</b>).</p> "> Figure 2
<p>Case of HGAP that progressed from low-grade astrocytoma and a case of NET-PATZ1. (<b>A</b>–<b>F</b>) Case 8 documents the progression from low-grade astrocytoma to HGAP. (<b>A</b>–<b>C</b>) the first resection was consistent with low-grade astrocytoma: (<b>A</b>) compact area with elongated cells but no convincing Rosenthal fibers; (<b>B</b>) microcystic area with myxoid background; and (<b>C</b>) occasional giant cells and EGBs. (<b>D</b>–<b>F</b>) Second resection shows progression to high-grade astrocytoma: (<b>D</b>) necrosis with pseudopalisading arrangement; (<b>E</b>) cellular areas with round hyperchromatic cells and multinucleated giant cells and EGBs; and (<b>F</b>) a Ki67 immunostain shows high proliferative activity. Case 10 (<b>G</b>–<b>I</b>) is a case of NET-PATZ1 with morphological features of PXA: (<b>G</b>) solid circumscribed cellular area with spindle neoplastic cells; (<b>H</b>) leptomeningeal infiltration with occasional pleomorphic neoplastic cells; and (<b>I</b>) CD34 highlights diffuse staining in the neoplastic cells. Scale bars: 100 µm (<b>A</b>–<b>C</b>), 200 µm (<b>D</b>–<b>I</b>).</p> "> Figure 3
<p>Two cases from the third group with high-grade histological features. (<b>A</b>–<b>D</b>) Case 15 epithelioid glioblastoma with PXA MC: (<b>A</b>) solid sheet of cellular epithelioid/rhabdoid cells (upper inset) with significant mitotic activity (lower inset); (<b>B</b>) round cells with fibrillary background and endothelial proliferation; (<b>C</b>) GFAP immunostaining shows variable staining ranging from round to elongated cellular processes, but a good proportion of neoplastic cells were immunonegative; and (<b>D</b>) SMARCB1 (INI1) immunostain is retained in the neoplastic cells. (<b>E</b>–<b>H</b>) Case 16 high-grade histology with focal area classic PXA morphological features: (<b>E</b>) circumscribed superficial cellular neoplasm; (<b>F</b>) high-cellular spindle cell glial neoplasm arranging in interlacing fascicles; (<b>G</b>) small focus with many eosinophilic granular and pale bodies; and (<b>H</b>) infiltrative component. Scale bars: 100 µm (<b>A</b>–<b>D</b>), 200 µm (<b>E</b>–<b>H</b>).</p> "> Figure 4
<p>Two cases from the third group with low-grade histological features. (<b>A</b>–<b>F</b>) Case 17 glial tumor with oligodendroglioma-like and astrocytic-like areas: (<b>A</b>) neoplastic cells with round nuclei arranged around multilayered blood vessels (inset show high magnification for the round cells with perinuclear halo); (<b>B</b>) GFAP highlights mainly background staining; (<b>C</b>) cellular spindle cells with focal lymphocytic aggregates and eosinophilic granular bodies (inset); (<b>D</b>) infiltrative component (higher magnification in the upper inset) and microcalcification (higher magnification in the lower inset); (<b>E</b>) leptomeningeal involvement with focal rhabdoid/epithelioid cells (inset shows higher magnification for these cells); and (<b>F</b>) GFAP is staining cellular processes in the leptomeningeal area. (<b>G</b>–<b>I</b>) Case 18 low-grade neuroepithelial tumor with histological features of histology of SEGA and <span class="html-italic">ST13-ROS1</span> fusion: (<b>G</b>) circumscribed tumor composed of neoplastic glial cells with large eosinophilic cytoplasm; (<b>H</b>) occasional pleomorphic cells; and (<b>I</b>) GFAP shows diffuse faint cytoplasmic staining in the neoplastic cells. Scale bars: 200 µm (<b>A</b>–<b>I</b>).</p> ">
Abstract
:1. Introduction
2. Material and Methods
3. Results
4. Discussion
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Case Number | Pathological Diagnosis | MC v12.8 (CS) | Final Diagnosis | Age in Years | Sex | Location | Circumscription | Pleomorphism | Spindle Cells | Xanthoma Cells | Bodies (EGBs/Pale) | Epithelioid/Rhabdoid Cells | Lymphocytes | Mitotic Activity | Necrosis | Endothelial Proliferation | BRAF V600E | CDKN2A/B Deletion | pTERT | PFS (Months) | OS |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1 | PXA, G2 | PXA (0.99) | PXA | 10 | M | PL | CFI | 0 | 1 | 0 | 1 | 0 | 2 | NS | No | No | Yes | Yes | No | 57 | 57 (A) |
C2 | AS | GG (0.80) | AS | 12 | F | TL | CFI | 1 | 2 | 0 | 0 | 0 | 1 | NS | No | No | Yes | Yes | No | 49 | 91 (A) |
C2-R | PXA, G2 | PXA (0.99) | PXA | 16 | F | TL | CFI | 2 | 1 | 0 | 2 | 0 | 1 | NS | No | No | Yes | Yes | No | ||
C3 | PXA, G2 | PXA (0.99) | PXA | 9 | F | FL | C ** | 1 | 0 | 0 | 1 | 0 | 0 | NS | No | No | Yes | Yes | No | 74 | 74 (A) |
C4 | PXA, G2 | PXA (0.99) | PXA | 14 | F | TL | CFI | 3 | 0 | 0 | 1 | 1 | 2 | NS | No | No | Yes | Yes | No | NA | NA |
C5 | PXA, G2 | PXA (0.99) | PXA | 13 | M | TL | CFI | 2 | 1 | 1 | 1 | 1 | 2 | NS | No | No | Yes | Yes | No | 67 | 67 (A) |
C6 | PXA, G2 | PXA (0.99) | PXA | 14 | F | FL | CFI | 2 | 1 | 1 | 1 | 0 | 2 | NS | No | No | Yes | Yes | No | 9 | 44 (A) |
C7 | PXA, G2 | PXA (0.99) | PXA | 14 | M | TL | CFI | 3 | 0 | 1 | 1 | 0 | 2 | NS | No | No | Yes | Yes | No | 3 | 51 (A) |
C8 | PXA, G2 | PA (0.98) | PA, NF1 * | 20 | M | BGT | C ** | 2 | 1 | 0 | 1 | 0 | 1 | NS | No | No | No | Yes | Yes | 31 | 108 (D) |
C8-R | PXA, G3 | HGAP (0.97) | HGAP | 26 | M | BGT | CDI | 2 | 0 | 0 | 1 | 1 | 1 | S | Yes | Yes | No | Yes | Yes | ||
C8-R | PXA, G3 | HGAP (0.89) | HGAP | 26 | M | BGT | CDI | 2 | 1 | 0 | 0 | 0 | 0 | S | Yes | Yes | No | Yes | Yes | ||
C9 | PXA, G2 | GG (045) | GG | 16 | F | PL | CFI | 0 | 0 | 0 | 1 | 0 | 1 | NS | No | No | NA | No | NA | 50 | 50 (A) |
C10 | PXA, G2 | NET-PATZ1 (0.98) | NET-PATZ1 * | 3 | M | FL | CFI | 0 | 1 | 0 | 0 | 0 | 1 | NS | No | No | No | No | No | 15 | 15 (A) |
C11 | PXA, G2 | PA, midline (0.49) | GL, NOS * | 17 | M | FL | C | 1 | 1 | 0 | 1 | 3 | 1 | NS | No | Yes | NA | No | NA | NA | NA |
C12 | PXA, G2 | CT (0.86) | GG | 16 | M | TL | CDI | 0 | 3 | 0 | 0 | 0 | 1 | NS | No | No | Yes | No | No | 12 | 12 (A) |
C13 | PXA, G2 | PA, HE (0.98) | PA | 16 | M | TL | C | 2 | 0 | 0 | 0 | 0 | 1 | NS | Yes | Yes | Yes | No | No | NA | NA |
C14 | PXA, G2 | GG (0.81) | GG | 13 | F | PL | CFI | 1 | 1 | 0 | 0 | 0 | 1 | NS | No | No | Yes | No | No | NA | NA |
C15 | GBM | PXA (0.98) | pHGG | 2 | M | TL | CDI | 1 | 0 | 0 | 0 | 3 | 0 | S | Yes | Yes | Yes | Yes | No | 16 | 16 (D) |
C16 | GBM | PXA (0.96) | GL-HG, NEC * | 13 | M | FL | CFI | 1 | 2 | 1 | 2 | 0 | 1 | S | Yes | No | No | Yes | No | NA | NA |
C17 | GL, NEC | PXA (0.90) | GL, NEC * | 5 | M | TL | CFI | 1 | 1 | 0 | 1 | 1 | 1 | S | No | Yes | No | Yes | No | 56 | 56 (A) |
C18 | GL, NEC | PXA (0.92) | GL, NEC * | 6 | F | LV | C ** | 2 | 2 | 0 | 0 | 3 | 1 | NS | No | No | No | Yes | No | 32 | 32 (A) |
C19 | GNT-HG | PXA (0.99) | pHGG | 9 | F | TL | CFI | 0 | 0 | 0 | 0 | 1 | 1 | S | No | Yes | Yes | Yes | No | 18 | 18 (D) |
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Alturkustani, M. Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis. Diagnostics 2023, 13, 3464. https://doi.org/10.3390/diagnostics13223464
Alturkustani M. Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis. Diagnostics. 2023; 13(22):3464. https://doi.org/10.3390/diagnostics13223464
Chicago/Turabian StyleAlturkustani, Murad. 2023. "Diagnostic Insights into Pediatric Pleomorphic Xanthoastrocytoma through DNA Methylation Class and Pathological Diagnosis Analysis" Diagnostics 13, no. 22: 3464. https://doi.org/10.3390/diagnostics13223464