Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas

Emily A Sloan¹, Tabitha Cooney^{2

3}, Nancy Ann Oberheim Bush^{4

5}, Robin Buerki⁴, Jennie Taylor^{4

5}, Jennifer L Clarke^{4

5}, Joseph Torkildson^{2

3}, Cassie Kline^{3

5}, Alyssa Reddy^{3

5}, Sabine Mueller^{3

5

6}, Anu Banerjee^{3

6}, Nicholas Butowski⁴, Susan Chang⁴, Praveen V Mummaneni⁶, Dean Chou⁶, Lee Tan⁶, Philip Theodosopoulos⁶, Michael McDermott⁶, Mitchel Berger⁶, Corey Raffel⁶, Nalin Gupta⁶, Peter P Sun⁷, Yi Li⁸, Vinil Shah⁸, Soonmee Cha⁸, Steve Braunstein⁹, David R Raleigh^{6

9}, David Samuel¹⁰, David Scharnhorst¹¹, Cynthia Fata¹¹, Hua Guo¹², Gregory Moes¹³, John Y H Kim¹⁴, Carl Koschmann¹⁵, Jessica Van Ziffle^{1

16}, Courtney Onodera^{1

16}, Patrick Devine^{1

16}, James P Grenert^{1

16}, Julieann C Lee¹, Melike Pekmezci¹, Joanna J Phillips^{1

6}, Tarik Tihan¹, Andrew W Bollen¹, Arie Perry^{1

6}, David A Solomon^{17

18}

Affiliations

¹ Department of Pathology, University of California, San Francisco, CA, USA.
² Department of Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
³ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA, USA.
⁴ Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA.
⁵ Department of Neurology, University of California, San Francisco, CA, USA.
⁶ Department of Neurological Surgery, University of California, San Francisco, CA, USA.
⁷ Department of Neurological Surgery, University of California, San Francisco at UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
⁸ Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA.
⁹ Department of Radiation Oncology, University of California, San Francisco, CA, USA.
¹⁰ Department of Hematology/Oncology, Valley Children's Hospital, Madera, CA, USA.
¹¹ Department of Pathology, Valley Children's Hospital, Madera, CA, USA.
¹² Department of Pathology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
¹³ Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
¹⁴ Department of Pediatric Neurosurgery, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
¹⁵ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
¹⁶ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA.
¹⁷ Department of Pathology, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.
¹⁸ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.

PMID: 31515627
PMCID: PMC6818961
DOI: 10.1007/s00401-019-02072-2

Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas

Emily A Sloan et al. Acta Neuropathol. 2019 Nov.

. 2019 Nov;138(5):877-881.

doi: 10.1007/s00401-019-02072-2. Epub 2019 Sep 12.

Authors

Affiliations

¹ Department of Pathology, University of California, San Francisco, CA, USA.
² Department of Hematology/Oncology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
³ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA, USA.
⁴ Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA, USA.
⁵ Department of Neurology, University of California, San Francisco, CA, USA.
⁶ Department of Neurological Surgery, University of California, San Francisco, CA, USA.
⁷ Department of Neurological Surgery, University of California, San Francisco at UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
⁸ Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA.
⁹ Department of Radiation Oncology, University of California, San Francisco, CA, USA.
¹⁰ Department of Hematology/Oncology, Valley Children's Hospital, Madera, CA, USA.
¹¹ Department of Pathology, Valley Children's Hospital, Madera, CA, USA.
¹² Department of Pathology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
¹³ Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
¹⁴ Department of Pediatric Neurosurgery, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.
¹⁵ Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.
¹⁶ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA.
¹⁷ Department of Pathology, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.
¹⁸ Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA, USA. david.solomon@ucsf.edu.

PMID: 31515627
PMCID: PMC6818961
DOI: 10.1007/s00401-019-02072-2

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**
Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas. a Oncoprint summary table showing the clinicopathologic features and likely pathogenic genetic alterations identified in the 13 patients. b Radiographic and histologic features of the three spinal cord diffuse gliomas with non-canonical histone H3 mutations. Case SC-9 harboring dual *H3F3A* p.K27M and p.G34W mutations demonstrated immunopositivity with antibodies against both histone H3 K27M mutant protein and histone H3.3 G34W mutant protein in virtually all tumor cells. Case SC-10 harboring *H3F3A* p.G34W mutation demonstrated immunopositivity for histone H3.3 G34W mutant protein but not histone H3 K27M mutant protein. Case SC-11 harboring *H3F3B* p.K27I mutation was immunonegative for histone H3 K27M mutant protein but demonstrated loss of histone H3 lysine 27 trimethylation (H3K27me3) in the vast majority of tumor nuclei.

See this image and copyright information in PMC

References

1. Alvi MA, Ida CM, Paolini MA et al. (2019) Spinal cord high-grade infiltrating gliomas in adults: clinicopathological and molecular evaluation. Mod Pathol [Epub 2019 April 26] - PubMed
1. Amary F, Berisha F, Ye H, et al. (2017) H3F3A (Histone 3.3) G34W immunohistochemistry: a reliable marker defining benign and malignant giant cell tumor of bone. Am J Surg Pathol 41:1059–1068 - PMC - PubMed
1. Behjati S, Tarpey PS, Presneau N et al. (2013) Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nat Genet 45: 1479–1482 - PMC - PubMed
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1. Cleven AH, Hocker S, Briaire-de Bruijn I, et al. (2015) Mutation analysis of H3F3A and H3F3B as a diagnostic tool for giant cell tumor of bone and chondroblastoma. Am J Surg Pathol 39:1576–1583 - PubMed

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Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas

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Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas

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