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Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity

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Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity. / Schweizer, Leonille; Thierfelder, Felix; Thomas, Christian; Soschinski, Patrick; Suwala, Abigail; Stichel, Damian; Wefers, Annika K; Wessels, Lars; Misch, Martin; Kim, Hee-Yeong; Jödicke, Ruben; Teichmann, Daniel; Kaul, David; Kahn, Johannes; Bockmayr, Michael; Hasselblatt, Martin; Younsi, Alexander; Unterberg, Andreas; Knie, Bettina; Walter, Jan; Al Safatli, Diaa; May, Sven-Axel; Jödicke, Andreas; Ntoulias, Georgios; Moskopp, Dag; Vajkoczy, Peter; Heppner, Frank L; Capper, David; Hartmann, Wolfgang; Hartmann, Christian; von Deimling, Andreas; Reuss, David E; Schöler, Anne; Koch, Arend.

In: ACTA NEUROPATHOL, Vol. 140, No. 6, 12.2020, p. 893-906.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schweizer, L, Thierfelder, F, Thomas, C, Soschinski, P, Suwala, A, Stichel, D, Wefers, AK, Wessels, L, Misch, M, Kim, H-Y, Jödicke, R, Teichmann, D, Kaul, D, Kahn, J, Bockmayr, M, Hasselblatt, M, Younsi, A, Unterberg, A, Knie, B, Walter, J, Al Safatli, D, May, S-A, Jödicke, A, Ntoulias, G, Moskopp, D, Vajkoczy, P, Heppner, FL, Capper, D, Hartmann, W, Hartmann, C, von Deimling, A, Reuss, DE, Schöler, A & Koch, A 2020, 'Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity', ACTA NEUROPATHOL, vol. 140, no. 6, pp. 893-906. https://doi.org/10.1007/s00401-020-02218-7

APA

Schweizer, L., Thierfelder, F., Thomas, C., Soschinski, P., Suwala, A., Stichel, D., Wefers, A. K., Wessels, L., Misch, M., Kim, H-Y., Jödicke, R., Teichmann, D., Kaul, D., Kahn, J., Bockmayr, M., Hasselblatt, M., Younsi, A., Unterberg, A., Knie, B., ... Koch, A. (2020). Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity. ACTA NEUROPATHOL, 140(6), 893-906. https://doi.org/10.1007/s00401-020-02218-7

Vancouver

Schweizer L, Thierfelder F, Thomas C, Soschinski P, Suwala A, Stichel D et al. Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity. ACTA NEUROPATHOL. 2020 Dec;140(6):893-906. https://doi.org/10.1007/s00401-020-02218-7

Bibtex

@article{0cc8dac93f66453db0ecbd655fa2c1b6,
title = "Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity",
abstract = "Paragangliomas/pheochromocytomas are rare neuroendocrine tumors that arise from the adrenal gland or ganglia at various sites throughout the body. They display a remarkable diversity of driver alterations and are associated with germline mutations in up to 40% of the cases. Comprehensive molecular profiling of abdomino-thoracic paragangliomas revealed four molecularly defined and clinically relevant subtypes. Paragangliomas of the cauda equina region are considered to belong to one of the defined molecular subtypes, but a systematic molecular analysis has not yet been performed. In this study, we analyzed genome-wide DNA methylation profiles of 57 cauda equina paragangliomas and show that these tumors are epigenetically distinct from non-spinal paragangliomas and other tumors. In contrast to paragangliomas of other sites, chromosomal imbalances are widely lacking in cauda equina paragangliomas. Furthermore, RNA and DNA exome sequencing revealed that frequent genetic alterations found in non-spinal paragangliomas-including the prognostically relevant SDH mutations-are absent in cauda equina paragangliomas. Histologically, cauda equina paragangliomas show frequently gangliocytic differentiation and strong immunoreactivity to pan-cytokeratin and cytokeratin 18, which is not common in paragangliomas of other sites. None of our cases had a familial paraganglioma syndrome. Tumors rarely recurred (9%) or presented with multiple lesions within the spinal compartment (7%), but did not metastasize outside the CNS. In summary, we show that cauda equina paragangliomas represent a distinct, sporadic tumor entity defined by a unique clinical and morpho-molecular profile.",
author = "Leonille Schweizer and Felix Thierfelder and Christian Thomas and Patrick Soschinski and Abigail Suwala and Damian Stichel and Wefers, {Annika K} and Lars Wessels and Martin Misch and Hee-Yeong Kim and Ruben J{\"o}dicke and Daniel Teichmann and David Kaul and Johannes Kahn and Michael Bockmayr and Martin Hasselblatt and Alexander Younsi and Andreas Unterberg and Bettina Knie and Jan Walter and {Al Safatli}, Diaa and Sven-Axel May and Andreas J{\"o}dicke and Georgios Ntoulias and Dag Moskopp and Peter Vajkoczy and Heppner, {Frank L} and David Capper and Wolfgang Hartmann and Christian Hartmann and {von Deimling}, Andreas and Reuss, {David E} and Anne Sch{\"o}ler and Arend Koch",
year = "2020",
month = dec,
doi = "10.1007/s00401-020-02218-7",
language = "English",
volume = "140",
pages = "893--906",
journal = "ACTA NEUROPATHOL",
issn = "0001-6322",
publisher = "Springer",
number = "6",

}

RIS

TY - JOUR

T1 - Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity

AU - Schweizer, Leonille

AU - Thierfelder, Felix

AU - Thomas, Christian

AU - Soschinski, Patrick

AU - Suwala, Abigail

AU - Stichel, Damian

AU - Wefers, Annika K

AU - Wessels, Lars

AU - Misch, Martin

AU - Kim, Hee-Yeong

AU - Jödicke, Ruben

AU - Teichmann, Daniel

AU - Kaul, David

AU - Kahn, Johannes

AU - Bockmayr, Michael

AU - Hasselblatt, Martin

AU - Younsi, Alexander

AU - Unterberg, Andreas

AU - Knie, Bettina

AU - Walter, Jan

AU - Al Safatli, Diaa

AU - May, Sven-Axel

AU - Jödicke, Andreas

AU - Ntoulias, Georgios

AU - Moskopp, Dag

AU - Vajkoczy, Peter

AU - Heppner, Frank L

AU - Capper, David

AU - Hartmann, Wolfgang

AU - Hartmann, Christian

AU - von Deimling, Andreas

AU - Reuss, David E

AU - Schöler, Anne

AU - Koch, Arend

PY - 2020/12

Y1 - 2020/12

N2 - Paragangliomas/pheochromocytomas are rare neuroendocrine tumors that arise from the adrenal gland or ganglia at various sites throughout the body. They display a remarkable diversity of driver alterations and are associated with germline mutations in up to 40% of the cases. Comprehensive molecular profiling of abdomino-thoracic paragangliomas revealed four molecularly defined and clinically relevant subtypes. Paragangliomas of the cauda equina region are considered to belong to one of the defined molecular subtypes, but a systematic molecular analysis has not yet been performed. In this study, we analyzed genome-wide DNA methylation profiles of 57 cauda equina paragangliomas and show that these tumors are epigenetically distinct from non-spinal paragangliomas and other tumors. In contrast to paragangliomas of other sites, chromosomal imbalances are widely lacking in cauda equina paragangliomas. Furthermore, RNA and DNA exome sequencing revealed that frequent genetic alterations found in non-spinal paragangliomas-including the prognostically relevant SDH mutations-are absent in cauda equina paragangliomas. Histologically, cauda equina paragangliomas show frequently gangliocytic differentiation and strong immunoreactivity to pan-cytokeratin and cytokeratin 18, which is not common in paragangliomas of other sites. None of our cases had a familial paraganglioma syndrome. Tumors rarely recurred (9%) or presented with multiple lesions within the spinal compartment (7%), but did not metastasize outside the CNS. In summary, we show that cauda equina paragangliomas represent a distinct, sporadic tumor entity defined by a unique clinical and morpho-molecular profile.

AB - Paragangliomas/pheochromocytomas are rare neuroendocrine tumors that arise from the adrenal gland or ganglia at various sites throughout the body. They display a remarkable diversity of driver alterations and are associated with germline mutations in up to 40% of the cases. Comprehensive molecular profiling of abdomino-thoracic paragangliomas revealed four molecularly defined and clinically relevant subtypes. Paragangliomas of the cauda equina region are considered to belong to one of the defined molecular subtypes, but a systematic molecular analysis has not yet been performed. In this study, we analyzed genome-wide DNA methylation profiles of 57 cauda equina paragangliomas and show that these tumors are epigenetically distinct from non-spinal paragangliomas and other tumors. In contrast to paragangliomas of other sites, chromosomal imbalances are widely lacking in cauda equina paragangliomas. Furthermore, RNA and DNA exome sequencing revealed that frequent genetic alterations found in non-spinal paragangliomas-including the prognostically relevant SDH mutations-are absent in cauda equina paragangliomas. Histologically, cauda equina paragangliomas show frequently gangliocytic differentiation and strong immunoreactivity to pan-cytokeratin and cytokeratin 18, which is not common in paragangliomas of other sites. None of our cases had a familial paraganglioma syndrome. Tumors rarely recurred (9%) or presented with multiple lesions within the spinal compartment (7%), but did not metastasize outside the CNS. In summary, we show that cauda equina paragangliomas represent a distinct, sporadic tumor entity defined by a unique clinical and morpho-molecular profile.

U2 - 10.1007/s00401-020-02218-7

DO - 10.1007/s00401-020-02218-7

M3 - SCORING: Journal article

C2 - 32926213

VL - 140

SP - 893

EP - 906

JO - ACTA NEUROPATHOL

JF - ACTA NEUROPATHOL

SN - 0001-6322

IS - 6

ER -