Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features

Emily A Sloan¹, Stephanie Hilz², Rohit Gupta¹, Cathryn Cadwell¹, Biswarathan Ramani¹, Jeffrey Hofmann¹, Cassie N Kline^{3

4}, Anu Banerjee^{2

3}, Alyssa Reddy^{2

4}, Nancy Ann Oberheim Bush^{4

5}, Susan Chang⁵, Steve Braunstein⁶, Edward F Chang², Corey Raffel², Nalin Gupta², Peter P Sun², John Y H Kim⁷, Gregory Moes⁸, Elizabeth Alva⁹, Rong Li¹⁰, Carol S Bruggers¹¹, Mouied Alashari¹², Cynthia Wetmore¹³, Shipra Garg¹⁴, Megan Dishop¹⁴, Jessica Van Ziffle^{1

15}, Courtney Onodera^{1

15}, Patrick Devine^{1

15}, James P Grenert^{1

15}, Julieann C Lee¹, Joanna J Phillips^{1

2}, Melike Pekmezci¹, Tarik Tihan¹, Andrew W Bollen¹, Mitchel S Berger², Joseph F Costello², Arie Perry^{1

2}, David A Solomon^{16

17}

Affiliations

¹ Department of Pathology, University of California, San Francisco, CA, USA.
² Department of Neurological Surgery, University of California, San Francisco, CA, USA.
³ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA, USA.
⁴ Department of Neurology, University of California, San Francisco, CA, USA.
⁵ Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA.
⁶ Department of Radiation Oncology, University of California, San Francisco, CA, USA.
⁷ Department of Pediatric Neurosurgery, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
⁸ Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
⁹ Division of Hematology and Oncology, Children's of Alabama, University of Alabama at Birmingham, Birmingham, AL, USA.
¹⁰ Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA.
¹¹ Division of Pediatric Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
¹² Department of Pathology, University of Utah, Salt Lake City, UT, USA.
¹³ Department of Hematology/Oncology, Phoenix Children's Hospital, Phoenix, AZ, USA.
¹⁴ Department of Pathology, Phoenix Children's Hospital, Phoenix, AZ, USA.
¹⁵ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA.
¹⁶ Department of Pathology, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.
¹⁷ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.

PMID: 32157385
PMCID: PMC7183424
DOI: 10.1007/s00401-020-02144-8

Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features

Emily A Sloan et al. Acta Neuropathol. 2020 May.

. 2020 May;139(5):953-957.

doi: 10.1007/s00401-020-02144-8. Epub 2020 Mar 10.

Authors

Affiliations

¹ Department of Pathology, University of California, San Francisco, CA, USA.
² Department of Neurological Surgery, University of California, San Francisco, CA, USA.
³ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA, USA.
⁴ Department of Neurology, University of California, San Francisco, CA, USA.
⁵ Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA.
⁶ Department of Radiation Oncology, University of California, San Francisco, CA, USA.
⁷ Department of Pediatric Neurosurgery, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
⁸ Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
⁹ Division of Hematology and Oncology, Children's of Alabama, University of Alabama at Birmingham, Birmingham, AL, USA.
¹⁰ Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA.
¹¹ Division of Pediatric Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
¹² Department of Pathology, University of Utah, Salt Lake City, UT, USA.
¹³ Department of Hematology/Oncology, Phoenix Children's Hospital, Phoenix, AZ, USA.
¹⁴ Department of Pathology, Phoenix Children's Hospital, Phoenix, AZ, USA.
¹⁵ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA.
¹⁶ Department of Pathology, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.
¹⁷ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.

PMID: 32157385
PMCID: PMC7183424
DOI: 10.1007/s00401-020-02144-8

No abstract available

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Conflict of interest statement

Conflict of interest

The authors declare that they have no competing interests related to this report.

Figures

**Fig. 1**
Clinicopathologic features of gliomas arising in the setting of Li-Fraumeni syndrome (LFS). a Imaging and histology from patient LF-1 (28-year-old woman) showing an expansile, nonenhancing, T2/FLAIR-hyperintense mass centered in the left temporal lobe with histologic features of a diffuse astrocytoma that was IDH-mutant. b Imaging and histology from patient LF-7 (4-year-old boy) showing an expansile and enhancing mass involving the thalami and left lateral ventricle with histologic features of a glioblastoma that was IDH-wildtype. c Oncoprint table of the clinicopathologic and molecular features of the 14 gliomas arising in the setting of LFS. **d,e** Kaplan-Meier analysis of progression-free survival (d) and disease-specific survival (e) stratified by IDH mutation status for the 14 gliomas arising in the setting of LFS. p value calculated by Log-rank (Mantel-Cox) test.

See this image and copyright information in PMC

References

1. Cancer Genome Atlas Research Network (2015) Comprehensive, integrative genomic analysis of diffuse lower-grade gliomas. N Engl J Med 372:2481–2498. - PMC - PubMed
1. D’Angelo F, Ceccarelli M, Tala et al. (2019) The molecular landscape of glioma in patients with Neurofibromatosis 1. Nat Med 25:176–187. - PMC - PubMed
1. Ferris SP, Goode B, Joseph NM et al. (2016) IDH1 mutation can be present in diffuse astrocytomas and giant cell glioblastomas of young children under 10 years of age. Acta Neuropathol 132:153–155. - PMC - PubMed
1. Hayes J, Yu Y, Jalbert LE (2018) Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas. Neuro Oncol 20:632–641. - PMC - PubMed
1. Kline CN, Joseph NM, Grenert JP et al. (2017) Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy. Neuro Oncol 19:699–709. - PMC - PubMed

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Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features

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Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features

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Conflict of interest statement

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