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. 2023 Dec;146(6):853-856.
doi: 10.1007/s00401-023-02638-1. Epub 2023 Sep 30.

Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics

Ramin Rahmanzade  1   2 , Elke Pfaff  3   4   5 , Rouzbeh Banan  1   2 , Philipp Sievers  1   2 , Abigail K Suwala  1   2 , Felix Hinz  1   2 , Henri Bogumil  1   2 , Asan Cherkezov  1   2 , Aras Fuat Kaan  1   2 , Daniel Schrimpf  1   2 , Dennis Friedel  1   2 , Kirsten Göbel  1   2 , Felix Keller  1   2 , Xavier Saenz-Sardà  6 , Alexander Lossos  7 , Martin Sill  3   4 , Olaf Witt  3   4   8 , Oliver W Sakowitz  9 , Andrey Korshunov  1   2   3 , David E Reuss  1   2 , Nima Etminan  10 , Andreas Unterberg  11 , Miriam Ratliff  10   12 , Christel Herold-Mende  13 , Wolfgang Wick  14   15 , Stefan M Pfister  3   4 , Andreas von Deimling  1   2 , David T W Jones  3   5 , Felix Sahm  16   17   18
Affiliations

Genetical and epigenetical profiling identifies two subgroups of pineal parenchymal tumors of intermediate differentiation (PPTID) with distinct molecular, histological and clinical characteristics

Ramin Rahmanzade et al. Acta Neuropathol. 2023 Dec.
No abstract available

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Figures

Fig. 1
Fig. 1
a–h PPTIDwild of transitional subtype depicting areas with diffuse growth pattern and clear-cell morphology (a) and, also, rosette-forming areas with typical histology of pineocytoma (b). Although both areas showed elevated proliferation index (c and d, hotspot Ki67: 8.7%), the neurofilament protein was significantly less expressed in diffuse area (e and f). Hotspot-Ki67 was measured via QuPath in order to reduce the inter-observer variability (g). Molecular analyses revealed a wild-type KBTBD4 gene, loss of chromosome 13q (h) and a DNA methylation class distinct from PPTID-A and -B. i Unsupervised DNA methylation-based t-SNE showed that PPTIDwt are epigenetically more similar to pineocytoma than PPTIDmut. j–l Kaplan–Meier curves by log-rank test. KBTBD4 insertions (j, p value 0.03) and hotspot Ki67 greater than or equal to 8% (k, p value 0.02) were significantly associated with worse progression-free survival (PFS). The 2007 WHO grading system (l, p value 0.8) failed to correlate with the PFS
See this image and copyright information in PMC

References

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