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4. Myelin insulation as a risk factor for axonal degeneration in autoimmune demyelinating disease

Author

Schäffner, Erik, Bosch-Queralt, Mar, Edgar, Julia M., Lehning, Maria, Strauß, Judith, Fleischer, Niko, Kungl, Theresa, Wieghofer, Peter, Berghoff, Stefan A., Reinert, Tilo, Krueger, Martin, Morawski, Markus, Möbius, Wiebke, Barrantes-Freer, Alonso, Stieler, Jens, Sun, Ting, Saher, Gesine, Schwab, Markus H., Wrede, Christoph, Frosch, Maximilian, Prinz, Marco, Reich, Daniel S., Flügel, Alexander, Stadelmann, Christine, Fledrich, Robert, Nave, Klaus-Armin, and Stassart, Ruth M.

Published
2023
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7. The Impact of Tumor Elongation on Facial Nerve Outcome after Surgery for Koos Grade 3 and 4 Vestibular Schwannomas in the Semi-Sitting Position via the Retrosigmoid Approach.

Author

Glieme, Franziska, Haddad, Lisa, Arlt, Felix, Vychopen, Martin, Seidel, Clemens, Barrantes-Freer, Alonso, Güresir, Erdem, and Wach, Johannes

Subjects
FACIAL paralysis, ACOUSTIC neuroma, FACIAL nerve, LOGISTIC regression analysis, SENSITIVITY & specificity (Statistics)
Abstract

Background: Facial nerve paralysis is a severe dysfunction after vestibular schwannoma (VS) surgery. Methods: This monocentric study analyzed 61 patients who underwent sporadic VS surgery in a standardized manner. The primary endpoint was the facial nerve outcome (FNO) at 3 months after VS surgery. FNO was dichotomized into "good" (House–Brackmann (HB) score ≤ 2) and "poor" (HB > 2). Results: Poor FNO was observed in 11 patients (18.0%) at 3 months after VS surgery. Radiomic tumor shape features were analyzed, and the AUC of elongation in the prediction of a poor HB at 3 months was 0.70 (95% CI: 0.56–0.85, p = 0.03) and the optimum threshold value (≤/>0.35) yielded a sensitivity and specificity of 64.0% and 75.4%, respectively. Multivariable logistic regression analyses considering the extent of resection (3), age (0.35) revealed that more elongated VSs (≤0.35; OR: 5.8; 95%CI: 1.2–28.2; p = 0.03) and those with an increased EoR (≥93.4%; OR: 6.5; 95%CI: 1.0–42.5; p = 0.05) are independently associated with poorer FNO at 3 months after surgery. Conclusions: Highly elongated VS shape seems to be a risk factor for worsened facial nerve outcome at 3 months after surgery for Koos grade 3 and 4 tumors. [ABSTRACT FROM AUTHOR]

Published
2024
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8. The role of the cerebellum in multiple sclerosis—150 years after Charcot

Author

Parmar, Katrin, Stadelmann, Christine, Rocca, Maria A., Langdon, Dawn, D'Angelo, Egidio, D’Souza, Marcus, Burggraaff, Jessica, Wegner, Christiane, Sastre-Garriga, Jaume, Barrantes-Freer, Alonso, Dorn, Jonas, Uitdehaag, Bernard M.J., Montalban, Xavier, Wuerfel, Jens, Enzinger, Christian, Rovira, Alex, Tintore, Mar, Filippi, Massimo, Kappos, Ludwig, and Sprenger, Till

Published
2018
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10. Lack of astrocytes hinders parenchymal oligodendrocyte precursor cells from reaching a myelinating state in osmolyte-induced demyelination

Author

Lohrberg, Melanie, Winkler, Anne, Franz, Jonas, van der Meer, Franziska, Ruhwedel, Torben, Sirmpilatze, Nikoloz, Dadarwal, Rakshit, Handwerker, Ronja, Esser, Daniel, Wiegand, Kerstin, Hagel, Christian, Gocht, Andreas, König, Fatima Barbara, Boretius, Susann, Möbius, Wiebke, Stadelmann, Christine, and Barrantes-Freer, Alonso

Published
2020
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13. Supplementary Figure S1 from Proinflammatory Macrophage Activation by the Polysialic Acid-Siglec-16 Axis Is Linked to Increased Survival of Patients with Glioblastoma

Author

Thiesler, Hauke, primary, Gretenkort, Lina, primary, Hoffmeister, Leonie, primary, Albers, Iris, primary, Ohlmeier, Luisa, primary, Röckle, Iris, primary, Verhagen, Andrea, primary, Banan, Rouzbeh, primary, Köpcke, Nora, primary, Krönke, Nicole, primary, Feuerhake, Friedrich, primary, Behling, Felix, primary, Barrantes-Freer, Alonso, primary, Mielke, Dorothee, primary, Rohde, Veit, primary, Hong, Bujung, primary, Varki, Ajit, primary, Schwabe, Kerstin, primary, Krauss, Joachim K., primary, Stadelmann, Christine, primary, Hartmann, Christian, primary, and Hildebrandt, Herbert, primary

Published
2023
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14. Supplementary Methods S1 from Proinflammatory Macrophage Activation by the Polysialic Acid-Siglec-16 Axis Is Linked to Increased Survival of Patients with Glioblastoma

Author

Thiesler, Hauke, primary, Gretenkort, Lina, primary, Hoffmeister, Leonie, primary, Albers, Iris, primary, Ohlmeier, Luisa, primary, Röckle, Iris, primary, Verhagen, Andrea, primary, Banan, Rouzbeh, primary, Köpcke, Nora, primary, Krönke, Nicole, primary, Feuerhake, Friedrich, primary, Behling, Felix, primary, Barrantes-Freer, Alonso, primary, Mielke, Dorothee, primary, Rohde, Veit, primary, Hong, Bujung, primary, Varki, Ajit, primary, Schwabe, Kerstin, primary, Krauss, Joachim K., primary, Stadelmann, Christine, primary, Hartmann, Christian, primary, and Hildebrandt, Herbert, primary

Published
2023
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15. Supplementary Tables S1-S14 from Proinflammatory Macrophage Activation by the Polysialic Acid-Siglec-16 Axis Is Linked to Increased Survival of Patients with Glioblastoma

Author

Thiesler, Hauke, primary, Gretenkort, Lina, primary, Hoffmeister, Leonie, primary, Albers, Iris, primary, Ohlmeier, Luisa, primary, Röckle, Iris, primary, Verhagen, Andrea, primary, Banan, Rouzbeh, primary, Köpcke, Nora, primary, Krönke, Nicole, primary, Feuerhake, Friedrich, primary, Behling, Felix, primary, Barrantes-Freer, Alonso, primary, Mielke, Dorothee, primary, Rohde, Veit, primary, Hong, Bujung, primary, Varki, Ajit, primary, Schwabe, Kerstin, primary, Krauss, Joachim K., primary, Stadelmann, Christine, primary, Hartmann, Christian, primary, and Hildebrandt, Herbert, primary

Published
2023
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16. Proinflammatory Macrophage Activation by the Polysialic Acid-Siglec-16 Axis Is Linked to Increased Survival of Patients with Glioblastoma

Author

Thiesler, Hauke, primary, Gretenkort, Lina, additional, Hoffmeister, Leonie, additional, Albers, Iris, additional, Ohlmeier, Luisa, additional, Röckle, Iris, additional, Verhagen, Andrea, additional, Banan, Rouzbeh, additional, Köpcke, Nora, additional, Krönke, Nicole, additional, Feuerhake, Friedrich, additional, Behling, Felix, additional, Barrantes-Freer, Alonso, additional, Mielke, Dorothee, additional, Rohde, Veit, additional, Hong, Bujung, additional, Varki, Ajit, additional, Schwabe, Kerstin, additional, Krauss, Joachim K., additional, Stadelmann, Christine, additional, Hartmann, Christian, additional, and Hildebrandt, Herbert, additional

Published
2023
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17. Data from Proinflammatory Macrophage Activation by the Polysialic Acid-Siglec-16 Axis Is Linked to Increased Survival of Patients with Glioblastoma

Author

Thiesler, Hauke, primary, Gretenkort, Lina, primary, Hoffmeister, Leonie, primary, Albers, Iris, primary, Ohlmeier, Luisa, primary, Röckle, Iris, primary, Verhagen, Andrea, primary, Banan, Rouzbeh, primary, Köpcke, Nora, primary, Krönke, Nicole, primary, Feuerhake, Friedrich, primary, Behling, Felix, primary, Barrantes-Freer, Alonso, primary, Mielke, Dorothee, primary, Rohde, Veit, primary, Hong, Bujung, primary, Varki, Ajit, primary, Schwabe, Kerstin, primary, Krauss, Joachim K., primary, Stadelmann, Christine, primary, Hartmann, Christian, primary, and Hildebrandt, Herbert, primary

Published
2023
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19. Supplementary Figure S7 from Incipient Melanoma Brain Metastases Instigate Astrogliosis and Neuroinflammation

Author

Schwartz, Hila, primary, Blacher, Eran, primary, Amer, Malak, primary, Livneh, Nir, primary, Abramovitz, Lilach, primary, Klein, Anat, primary, Ben-Shushan, Dikla, primary, Soffer, Shelly, primary, Blazquez, Raquel, primary, Barrantes-Freer, Alonso, primary, Müller, Meike, primary, Müller-Decker, Karin, primary, Stein, Reuven, primary, Tsarfaty, Galia, primary, Satchi-Fainaro, Ronit, primary, Umansky, Viktor, primary, Pukrop, Tobias, primary, and Erez, Neta, primary

Published
2023
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20. Supplementary Figure Legends from Incipient Melanoma Brain Metastases Instigate Astrogliosis and Neuroinflammation

Author

Schwartz, Hila, primary, Blacher, Eran, primary, Amer, Malak, primary, Livneh, Nir, primary, Abramovitz, Lilach, primary, Klein, Anat, primary, Ben-Shushan, Dikla, primary, Soffer, Shelly, primary, Blazquez, Raquel, primary, Barrantes-Freer, Alonso, primary, Müller, Meike, primary, Müller-Decker, Karin, primary, Stein, Reuven, primary, Tsarfaty, Galia, primary, Satchi-Fainaro, Ronit, primary, Umansky, Viktor, primary, Pukrop, Tobias, primary, and Erez, Neta, primary

Published
2023
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21. Supplementary Table 2 from Incipient Melanoma Brain Metastases Instigate Astrogliosis and Neuroinflammation

Author

Schwartz, Hila, primary, Blacher, Eran, primary, Amer, Malak, primary, Livneh, Nir, primary, Abramovitz, Lilach, primary, Klein, Anat, primary, Ben-Shushan, Dikla, primary, Soffer, Shelly, primary, Blazquez, Raquel, primary, Barrantes-Freer, Alonso, primary, Müller, Meike, primary, Müller-Decker, Karin, primary, Stein, Reuven, primary, Tsarfaty, Galia, primary, Satchi-Fainaro, Ronit, primary, Umansky, Viktor, primary, Pukrop, Tobias, primary, and Erez, Neta, primary

Published
2023
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22. Supplementary Materials and Methods from Incipient Melanoma Brain Metastases Instigate Astrogliosis and Neuroinflammation

Author

Schwartz, Hila, primary, Blacher, Eran, primary, Amer, Malak, primary, Livneh, Nir, primary, Abramovitz, Lilach, primary, Klein, Anat, primary, Ben-Shushan, Dikla, primary, Soffer, Shelly, primary, Blazquez, Raquel, primary, Barrantes-Freer, Alonso, primary, Müller, Meike, primary, Müller-Decker, Karin, primary, Stein, Reuven, primary, Tsarfaty, Galia, primary, Satchi-Fainaro, Ronit, primary, Umansky, Viktor, primary, Pukrop, Tobias, primary, and Erez, Neta, primary

Published
2023
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23. Supplementary Table 1 from Incipient Melanoma Brain Metastases Instigate Astrogliosis and Neuroinflammation

Author

Schwartz, Hila, primary, Blacher, Eran, primary, Amer, Malak, primary, Livneh, Nir, primary, Abramovitz, Lilach, primary, Klein, Anat, primary, Ben-Shushan, Dikla, primary, Soffer, Shelly, primary, Blazquez, Raquel, primary, Barrantes-Freer, Alonso, primary, Müller, Meike, primary, Müller-Decker, Karin, primary, Stein, Reuven, primary, Tsarfaty, Galia, primary, Satchi-Fainaro, Ronit, primary, Umansky, Viktor, primary, Pukrop, Tobias, primary, and Erez, Neta, primary

Published
2023
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24. Data from Incipient Melanoma Brain Metastases Instigate Astrogliosis and Neuroinflammation

Author

Schwartz, Hila, primary, Blacher, Eran, primary, Amer, Malak, primary, Livneh, Nir, primary, Abramovitz, Lilach, primary, Klein, Anat, primary, Ben-Shushan, Dikla, primary, Soffer, Shelly, primary, Blazquez, Raquel, primary, Barrantes-Freer, Alonso, primary, Müller, Meike, primary, Müller-Decker, Karin, primary, Stein, Reuven, primary, Tsarfaty, Galia, primary, Satchi-Fainaro, Ronit, primary, Umansky, Viktor, primary, Pukrop, Tobias, primary, and Erez, Neta, primary

Published
2023
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25. Differential contribution of immune effector mechanisms to cortical demyelination in multiple sclerosis

Author

Lagumersindez-Denis, Nielsen, Wrzos, Claudia, Mack, Matthias, Winkler, Anne, van der Meer, Franziska, Reinert, Marie C., Hollasch, Heiko, Flach, Anne, Brühl, Hilke, Cullen, Eilish, Schlumbohm, Christina, Fuchs, Eberhard, Linington, Christopher, Barrantes-Freer, Alonso, Metz, Imke, Wegner, Christiane, Liebetanz, David, Prinz, Marco, Brück, Wolfgang, Stadelmann, Christine, and Nessler, Stefan

Published
2017
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27. Diagnostic red flags: steroid‐treated malignant CNS lymphoma mimicking autoimmune inflammatory demyelination

Author

Barrantes‐Freer, Alonso, Engel, Aylin Sophie, Rodríguez‐Villagra, Odir Antonio, Winkler, Anne, Bergmann, Markus, Mawrin, Christian, Kuempfel, Tania, Pellkofer, Hannah, Metz, Imke, Bleckmann, Annalen, Hernández‐Durán, Silvia, Schippling, Sven, Rushing, Elisabeth J., Frank, Stephan, Glatzel, Markus, Matschke, Jakob, Hartmann, Christian, Reifenberger, Guido, Müller, Wolf, Schildhaus, Hans‐Ulrich, Brück, Wolfgang, and Stadelmann, Christine

Published
2018
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31. Astrocyte and oligodendrocyte dynamics in central pontine myelinolysis

Author

Müller, Wolf C., Barrantes- Freer, Alonso, Morawski, Markus, Hirrlinger, Johannes, Universität Leipzig, Löber-Handwerker, Ronja, Müller, Wolf C., Barrantes- Freer, Alonso, Morawski, Markus, Hirrlinger, Johannes, Universität Leipzig, and Löber-Handwerker, Ronja

Abstract

Introduction: Astrocytopathy is known to be an early feature of different neuroinflammatory diseases. However, the impact of astrocyte loss and repopulation on the development and progression of demyelinating lesions in complex etiologies, such as multiple sclerosis, is difficult to determine. To more easily analyse astrocyte- oligodendrocyte-interactions during lesion formation and progression in the human brain, diseases like Central pontine myelinolysis (CPM) can be used as a less complex model of demyelinating disorders. CPM is a rare neurological condition characterized by damage to the myelin sheath of pontine nerves after osmotic shifts in serum. Astrocytopathy is regarded to be the first event in the pathogenesis of CPM lesions. Methods: Histological investigation of autopsy tissue from human CPM patients was performed. Lesions were staged considering the myelination and the appearance of different astrocyte subtypes, which was used to judge behaviour of the astrocytic compartment. Further, dynamics of oligodendrocyte loss and repopulation were analysed and compared to the astrocytic repopulation. Results: Early-staged lesions were largely demyelinated and showed an overall reduction of astrocyte densities. The few astrocytes present showed a bipolar morphology and were APQ4-negative, indicating an immature state. Intermediate- stage lesions were still largely demyelinated, but had increased overall densities of astrocytes, which did not yet reflect densities observed in the perilesion. Astrocytes appeared mostly ramified and AQP4-positive, indicating maturity. Nevertheless, bipolar astrocytes were still observable, indicating that repopulation was not yet finalized. Late-stage CPM-lesions were at least partially remyelinated. Astrocytes were detectable in overall densities comparable to the perilesion and showed a ramified (or even reactive morphology), as well as regular expression of AQP4. Investigating the oligodendrocytes, intralesional densities were r

Published
2021

32. Astrocyte and oligodendrocyte dynamics in central pontine myelinolysis

Author

Barrantes- Freer, Alonso, Morawski, Markus, Hirrlinger, Johannes, Universität Leipzig, Löber-Handwerker, Ronja, Barrantes- Freer, Alonso, Morawski, Markus, Hirrlinger, Johannes, Universität Leipzig, and Löber-Handwerker, Ronja

Abstract

Introduction: Astrocytopathy is known to be an early feature of different neuroinflammatory diseases. However, the impact of astrocyte loss and repopulation on the development and progression of demyelinating lesions in complex etiologies, such as multiple sclerosis, is difficult to determine. To more easily analyse astrocyte- oligodendrocyte-interactions during lesion formation and progression in the human brain, diseases like Central pontine myelinolysis (CPM) can be used as a less complex model of demyelinating disorders. CPM is a rare neurological condition characterized by damage to the myelin sheath of pontine nerves after osmotic shifts in serum. Astrocytopathy is regarded to be the first event in the pathogenesis of CPM lesions. Methods: Histological investigation of autopsy tissue from human CPM patients was performed. Lesions were staged considering the myelination and the appearance of different astrocyte subtypes, which was used to judge behaviour of the astrocytic compartment. Further, dynamics of oligodendrocyte loss and repopulation were analysed and compared to the astrocytic repopulation. Results: Early-staged lesions were largely demyelinated and showed an overall reduction of astrocyte densities. The few astrocytes present showed a bipolar morphology and were APQ4-negative, indicating an immature state. Intermediate- stage lesions were still largely demyelinated, but had increased overall densities of astrocytes, which did not yet reflect densities observed in the perilesion. Astrocytes appeared mostly ramified and AQP4-positive, indicating maturity. Nevertheless, bipolar astrocytes were still observable, indicating that repopulation was not yet finalized. Late-stage CPM-lesions were at least partially remyelinated. Astrocytes were detectable in overall densities comparable to the perilesion and showed a ramified (or even reactive morphology), as well as regular expression of AQP4. Investigating the oligodendrocytes, intralesional densities were r

Published
2021

33. Additional file 1 of Lack of astrocytes hinders parenchymal oligodendrocyte precursor cells from reaching a myelinating state in osmolyte-induced demyelination

Author

Lohrberg, Melanie, Winkler, Anne, Franz, Jonas, Meer, Franziska Van Der, Ruhwedel, Torben, Sirmpilatze, Nikoloz, Rakshit Dadarwal, Handwerker, Ronja, Esser, Daniel, Wiegand, Kerstin, Hagel, Christian, Gocht, Andreas, König, Fatima Barbara, Boretius, Susann, Möbius, Wiebke, Stadelmann, Christine, and Barrantes-Freer, Alonso

Abstract

Additional file 1: Tables S1, S2. Table S1: Patient data. Table S2: Criteria for staging of human CPM lesions.

Published
2020
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35. Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity

Author

Lazarov, Elinor, primary, Hillebrand, Merle, additional, Schröder, Simone, additional, Ternka, Katharina, additional, Hofhuis, Julia, additional, Ohlenbusch, Andreas, additional, Barrantes-Freer, Alonso, additional, Pardo, Luis A., additional, Fruergaard, Marlene U., additional, Nissen, Poul, additional, Brockmann, Knut, additional, Gärtner, Jutta, additional, and Rosewich, Hendrik, additional

Published
2020
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36. Synergistic PXT3003 therapy uncouples neuromuscular function from dysmyelination in male Charcot–Marie–Tooth disease type 1A (CMT1A) rats

Author

Prukop, Thomas, primary, Wernick, Stephanie, additional, Boussicault, Lydie, additional, Ewers, David, additional, Jäger, Karoline, additional, Adam, Julia, additional, Winter, Lorenz, additional, Quintes, Susanne, additional, Linhoff, Lisa, additional, Barrantes‐Freer, Alonso, additional, Bartl, Michael, additional, Czesnik, Dirk, additional, Zschüntzsch, Jana, additional, Schmidt, Jens, additional, Primas, Gwenaël, additional, Laffaire, Julien, additional, Rinaudo, Philippe, additional, Brureau, Anthony, additional, Nabirotchkin, Serguei, additional, Schwab, Markus H., additional, Nave, Klaus‐Armin, additional, Hajj, Rodolphe, additional, Cohen, Daniel, additional, and Sereda, Michael W., additional

Published
2020
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37. LEF1 supports metastatic brain colonization by regulating glutathione metabolism and increasing ROS resistance in breast cancer

Author

Blazquez, Raquel, primary, Rietkötter, Eva, additional, Wenske, Britta, additional, Wlochowitz, Darius, additional, Sparrer, Daniela, additional, Vollmer, Elena, additional, Müller, Gunnar, additional, Seegerer, Julia, additional, Sun, Xueni, additional, Dettmer, Katja, additional, Barrantes‐Freer, Alonso, additional, Stange, Lena, additional, Utpatel, Kirsten, additional, Bleckmann, Annalen, additional, Treiber, Hannes, additional, Bohnenberger, Hanibal, additional, Lenz, Christof, additional, Schulz, Matthias, additional, Reimelt, Christian, additional, Hackl, Christina, additional, Grade, Marian, additional, Büyüktas, Deram, additional, Siam, Laila, additional, Balkenhol, Marko, additional, Stadelmann, Christine, additional, Kube, Dieter, additional, Krahn, Michael P., additional, Proescholdt, Martin A., additional, Riemenschneider, Markus J., additional, Evert, Matthias, additional, Oefner, Peter J., additional, Klein, Chistoph A., additional, Hanisch, Uwe K., additional, Binder, Claudia, additional, and Pukrop, Tobias, additional

Published
2020
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38. Expression of Olig2, Nestin, NogoA and AQP4 have no impact on overall survival in IDH-wildtype glioblastoma

Author

Behling, Felix, primary, Barrantes-Freer, Alonso, additional, Behnes, Carl Ludwig, additional, Stockhammer, Florian, additional, Rohde, Veit, additional, Adel-Horowski, Antonia, additional, Rodríguez-Villagra, Odir Antonio, additional, Barboza, Miguel Angel, additional, Brück, Wolfgang, additional, Lehmann, Ulrich, additional, Stadelmann, Christine, additional, and Hartmann, Christian, additional

Published
2020
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40. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

Author

Huppke, Peter, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost P. H., Stadelmann, Christine, Barrantes-Freer, Alonso, Brueck, Wolfgang, Thiele, Holger, Nuernberg, Peter, Gaertner, Jutta, Orsomando, Giuseppe, Coleman, Michael P., Huppke, Peter, Wegener, Eike, Gilley, Jonathan, Angeletti, Carlo, Kurth, Ingo, Drenth, Joost P. H., Stadelmann, Christine, Barrantes-Freer, Alonso, Brueck, Wolfgang, Thiele, Holger, Nuernberg, Peter, Gaertner, Jutta, Orsomando, Giuseppe, and Coleman, Michael P.

Abstract

We identified a homozygous missense mutation in the gene encoding NAD synthesizing enzyme NMNAT2 in two siblings with childhood onset polyneuropathy with erythromelalgia. No additional homozygotes for this rare allele, which leads to amino acid substitution T94M, were present among the unaffected relatives tested or in the 60,000 exomes of the ExAC database. For axons to survive, axonal NMNAT2 activity has to be maintained above a threshold level but the T94M mutation confers a partial loss of function both in the ability of NMNAT2 to support axon survival and in its enzymatic properties. Electrophysiological tests and histological analysis of sural nerve biopsies in the patients were consistent with loss of distal sensory and motor axons. Thus, it is likely that NMNAT2 mutation causes this pain and axon loss phenotype making this the first disorder associated with mutation of a key regulator of Wallerian-like axon degeneration in humans. This supports indications from numerous animal studies that the Wallerian degeneration pathway is important in human disease and raises important questions about which other human phenotypes could be linked to this gene.

Published
2019

41. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia

Author

Huppke, Peter, primary, Wegener, Eike, additional, Gilley, Jonathan, additional, Angeletti, Carlo, additional, Kurth, Ingo, additional, Drenth, Joost P.H., additional, Stadelmann, Christine, additional, Barrantes-Freer, Alonso, additional, Brück, Wolfgang, additional, Thiele, Holger, additional, Nürnberg, Peter, additional, Gärtner, Jutta, additional, Orsomando, Giuseppe, additional, and Coleman, Michael P., additional

Published
2019
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43. Molecular pathological profile of brain metastases from a primary adenocarcinoma of the lung

Author

Hernandez Duran, Silvia, Barrantes-Freer, Alonso, Schatlo, Bawarjan, Rohde, Veit, Schildhaus, Hans-Ulrich, and Bleckmann, Annalen

Subjects
ddc: 610, 610 Medical sciences, Medicine
Abstract

Objective: Brain metastases (BM) constitute the most common type of central nervous system malignancies, and nearly half of them stem from lung cancers. Driver mutations have been identified in primary lung cancer, which have significantly enhanced the therapeutic options for patients harboring these[for full text, please go to the a.m. URL], 68. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), 7. Joint Meeting mit der Society of British Neurological Surgeons (SBNS)

Published
2017

44. Diagnostic red flags: steroid-treated malignant CNS lymphoma mimicking autoimmune inflammatory demyelination

Author

Barrantes-Freer, Alonso, Engel, Aylin Sophie, Rodríguez-Villagra, Odir Antonio, Winkler, Anne, Bergmann, Markus, Mawrin, Christian, Kuempfel, Tania, Pellkofer, Hannah, Metz, Imke, Bleckmann, Annalen, Hernández-Durán, Silvia, Schippling, Sven, Rushing, Elisabeth J, Frank, Stephan, Glatzel, Markus, Matschke, Jakob, Hartmann, Christian, Reifenberger, Guido, Müller, Wolf, Schildhaus, Hans-Ulrich, Brück, Wolfgang, Stadelmann, Christine, University of Zurich, and Stadelmann, Christine

Subjects
Male, Multiple Sclerosis, Lymphoma, Biopsy, T-Lymphocytes, 10208 Institute of Neuropathology, 610 Medicine & health, Antineoplastic Agents, Apoptosis, Multiplesclerosis, Central Nervous System Neoplasms, Cohort Studies, Diagnosis, Differential, Adrenal Cortex Hormones, hemic and lymphatic diseases, Humans, Corticosteroids, Diffuse large Bcell lymphoma, Myelin Sheath, Research Articles, Aged, Inflammation, 2800 General Neuroscience, Middle Aged, Immunohistochemistry, 10040 Clinic for Neurology, 2734 Pathology and Forensic Medicine, 2728 Neurology (clinical), 570 Life sciences, biology, Female, Demyelination
Abstract

The presence of inflammation and demyelination in a central nervous system (CNS) biopsypoints towards a limited, yet heterogeneous group of pathologies, of which multiple sclerosis(MS) represents one of the principal considerations. Inflammatory demyelination has alsobeen reported in patients with clinically suspected primary central nervous system lymphoma(PCNSL), especially when steroids had been administered prior to biopsy acquisition. Thehistopathological changes induced by corticosteroid treatment can range from mild reductionto complete disappearance of lymphoma cells. It has been proposed that in the absence ofneoplastic B cells, these biopsies are indistinguishable from MS, yet despite the clinicalrelevance, no histological studies have specifically compared the two entities. In this work,we analyzed CNS biopsies from eight patients with inflammatory demyelination in whomPCNSL was later histologically confirmed, and compared them with nine well defined earlyactive multiple sclerosis lesions. In the patients with steroid-treated PCNSL (ST-PCNSL) theinterval between first and second biopsy ranged from 3 to 32 weeks; all of the patients hadreceived corticosteroids before the first, but not the second biopsy. ST-PCNSL patients wereolder than MS patients (mean age: ST-PCNSL: 6264 years, MS: 3062 years), andhistological analysis revealed numerous apoptoses, patchy and incomplete rather thanconfluent and complete demyelination and a fuzzy lesion edge. The loss of Luxol fast bluehistochemistry was more profound than that of myelin proteins in immunohistochemistry,and T cell infiltration in ST-PCNSL exceeded that in MS by around fivefold (P50.005).Our data indicate that in the presence of extensive inflammation and incomplete,inhomogeneous demyelination, the neuropathologist should refrain from primarilyconsidering autoimmune inflammatory demyelination and, even in the absence of lymphomacells, instigate close clinical follow-up of the patient to detect recurrent lymphoma. University of Göttingen/[SFB-TRR 43]//Alemania UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Centro de Investigación en Neurociencias (CIN)

Published
2017

45. Frequency of BRAF V600E mutations in 1,031 central nervous system neoplasms - a retrospective single center analysis

Author

Behling, Felix, Barrantes-Freer, Alonso, Tatagiba, Marcos, Hartmann, Christian, Stadelmann, Christine, and Schittenhelm, Jens

Subjects
ddc: 610, biomarker, 610 Medical sciences, Medicine, targeted therapy, BRAF
Abstract

Objective: With the advent of deeper insights into the development and molecular identity of tumors, targeted therapies have become increasingly interesting and have shown efficacy in some tumor entities. The BRAF V600E mutation is one of those targets that can be approached e.g. with inhibitory antibodies.[for full text, please go to the a.m. URL], 67. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), 1. Joint Meeting mit der Koreanischen Gesellschaft für Neurochirurgie (KNS)

Published
2016

46. Frequency of BRAF V600E mutations in 969 central nervous system neoplasms

Author

Behling, Felix, Barrantes-Freer, Alonso, Skardelly, Marco, Nieser, Maike, Christians, Arne, Stockhammer, Florian, Rohde, Veit, Tatagiba, Marcos, Hartmann, Christian, Stadelmann, Christine, and Schittenhelm, Jens

Subjects
Histology, neoplasms, Pathology and Forensic Medicine
Abstract

Background Treatment options for oncological diseases have been enhanced by the advent of targeted therapies. The point mutation of the BRAF gene at codon 600 (BRAF V600E) is found in several tumor entities and can be approached with selective inhibitory antibodies. The BRAF inhibitor vemurafenib has demonstrated clinical efficacy in patients with BRAF V600E-mutant melanoma brain metastases and in other cancer diseases. Therefore the BRAF V600E mutation is a highly interesting oncological target in brain tumors. Methods This study assesses the BRAF V600E mutation status in 969 intracranial neoplasms using a tissue microarray method and immunohistochemical staining with the mutation-specific VE-1 antibody, followed by sequencing of positively stained cases. Results Out of 784 primary brain tumors seven cases with a BRAF V600E mutation were detected (7/784, 1 %). Six of these cases were neuroepithelial tumors (6/667, 1 %) encompassing 2 astrocytomas WHO grade II (2/42, 5 %), 1 gliosarcoma WHO grade IV (1/75, 1 %) and 3 glioblastomas WHO grade IV (3/312, 1 %). Interestingly, all three mutant glioblastomas showed epithelioid histopathological features. Patients with V600E mutated astrocytic tumors were significantly younger (mean age 15.3 years) than wildtype cases (58.2 years). Among three rhabdoid meningiomas, one case was mutated (1/3) while all other grade I-III meningiomas (1/116, 1 %) and all fifty vestibular schwannomas analyzed were of wildtype status. The vast majority of the BRAF V600E mutations were found in cerebral metastases of malignant melanomas and carcinomas (29/135, 22 %), with false-positive staining found in four breast cancer cases and two non-small-cell lung carcinoma (NSCLC) samples. Conclusions Our data suggest routine screening for BRAF V600E mutations for glioblastomas WHO grade IV below the age of 30, especially in glioblastomas with epithelioid features and in all rhabdoid meningiomas WHO grade III. For colorectal carcinoma, thyroid cancer, malignant melanoma and gliomas BRAF V600E immunostaining is sufficient for screening purposes. We also recommend routine immunohistochemical staining followed by sequencing validation in rare CNS metastases or metastases of unknown primary. Immunohistochemical analysis using mutation-specific antibodies on tissue microarrays is a feasible, time- and cost-efficient approach to high-throughput screening for specific mutations in large tumor series but sequencing validation is necessary in unexpected cases. peerReviewed

Published
2016

48. Diagnostic red flags: steroid-treated malignant CNS lymphoma mimicking autoimmune inflammatory demyelination

Author

Barrantes-Freer, Alonso, primary, Engel, Aylin Sophie, additional, Rodríguez-Villagra, Odir Antonio, additional, Winkler, Anne, additional, Bergmann, Markus, additional, Mawrin, Christian, additional, Kuempfel, Tania, additional, Pellkofer, Hannah, additional, Metz, Imke, additional, Bleckmann, Annalen, additional, Hernández-Durán, Silvia, additional, Schippling, Sven, additional, Rushing, Elisabeth J., additional, Frank, Stephan, additional, Glatzel, Markus, additional, Matschke, Jakob, additional, Hartmann, Christian, additional, Reifenberger, Guido, additional, Müller, Wolf, additional, Schildhaus, Hans-Ulrich, additional, Brück, Wolfgang, additional, and Stadelmann, Christine, additional

Published
2017
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50. CD133 expression is not synonymous with immunoreactivity for the diagnostic antibody AC133 and fluctuates throughout the cell cycle in glioma stem-like cells

Author

Renovanz, Mirjam, Barrantes-Freer, Alonso, Pardo, Luis, Giese, Alf, and Kim, Ella L.

Subjects
ddc: 610, glioma stem cell, embryonic structures, AC133 epitope, CD133, 610 Medical sciences, Medicine, neoplasms
Abstract

Objective: A transmembrane protein CD133 has been implicated as marker of stem-like glioma cells (GSCs) and as a predictor of therapeutic response in malignant brain tumors. CD133 expression is commonly evaluated by using antibodies specific for AC133 epitope located in the extracellular domain of the[for full text, please go to the a.m. URL], 66. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)

Published
2015

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