From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients

B. G. Tune; H. Sareen; B. Powter; S. Kahana-Edwin; Adam Cooper; E.-S. Koh; Cheok S. Lee; J.W. Po; G. McCowage; M. Dexter; L. Cain; G. O’Neill; V. Prior; J. Karpelowsky; M. Tsoli; L.O. Baumbusch; D. Ziegler; Tara L. Roberts; Paul DeSouza; Therese M. Becker; Yafeng Ma

From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients

B. G. Tune, H. Sareen, B. Powter, S. Kahana-Edwin, Adam Cooper, E.-S. Koh, Cheok S. Lee, J.W. Po, G. McCowage, M. Dexter, L. Cain, G. O’Neill, V. Prior, J. Karpelowsky, M. Tsoli, L.O. Baumbusch, D. Ziegler, Tara L. Roberts, Paul DeSouza, Therese M. BeckerYafeng Ma

Western Sydney University

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

Genetic histone variants have been implicated in cancer development and progression. Mutations affecting the histone 3 (H3) family, H3.1 (encoded by HIST1H3B and HIST1H3C) and H3.3 (encoded by H3F3A), are mainly associated with pediatric brain cancers. While considered poor prognostic brain cancer biomarkers in children, more recent studies have reported H3 alterations in adult brain cancer as well. Here, we established reliable droplet digital PCR based assays to detect three histone mutations (H3.3-K27M, H3.3-G34R, and H3.1-K27M) primarily linked to childhood brain cancer. We demonstrate the utility of our assays for sensitively detecting these mutations in cell-free DNA released from cultured diffuse intrinsic pontine glioma (DIPG) cells and in the cerebral spinal fluid of a pediatric patient with DIPG. We further screened tumor tissue DNA from 89 adult patients with glioma and 1 with diffuse hemispheric glioma from Southwestern Sydney, Australia, an ethnically diverse region, for these three mutations. No histone mutations were detected in adult glioma tissue, while H3.3-G34R presence was confirmed in the diffuse hemispheric glioma patient.

Original language	English
Article number	2907
Number of pages	12
Journal	Biomedicines
Volume	11
Issue number	11
Publication status	Published - Nov 2023

Bibliographical note

Publisher Copyright:
© 2023 by the authors.

Open Access - Access Right Statement

© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

Keywords

childhood brain cancer
glioblastoma
histone mutations
droplet digital PCR (ddPCR)
circulating free DNA (cfDNA)
circulating tumor DNA (ctDNA)
adult glioma

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Tune, B. G., Sareen, H., Powter, B., Kahana-Edwin, S., Cooper, A., Koh, E.-S., Lee, C. S., Po, J. W., McCowage, G., Dexter, M., Cain, L., O’Neill, G., Prior, V., Karpelowsky, J., Tsoli, M., Baumbusch, L. O., Ziegler, D., Roberts, T. L., DeSouza, P., ... Ma, Y. (2023). From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients. Biomedicines, 11(11), Article 2907.

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title = "From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients",

abstract = "Genetic histone variants have been implicated in cancer development and progression. Mutations affecting the histone 3 (H3) family, H3.1 (encoded by HIST1H3B and HIST1H3C) and H3.3 (encoded by H3F3A), are mainly associated with pediatric brain cancers. While considered poor prognostic brain cancer biomarkers in children, more recent studies have reported H3 alterations in adult brain cancer as well. Here, we established reliable droplet digital PCR based assays to detect three histone mutations (H3.3-K27M, H3.3-G34R, and H3.1-K27M) primarily linked to childhood brain cancer. We demonstrate the utility of our assays for sensitively detecting these mutations in cell-free DNA released from cultured diffuse intrinsic pontine glioma (DIPG) cells and in the cerebral spinal fluid of a pediatric patient with DIPG. We further screened tumor tissue DNA from 89 adult patients with glioma and 1 with diffuse hemispheric glioma from Southwestern Sydney, Australia, an ethnically diverse region, for these three mutations. No histone mutations were detected in adult glioma tissue, while H3.3-G34R presence was confirmed in the diffuse hemispheric glioma patient.",

keywords = "childhood brain cancer, glioblastoma, histone mutations, droplet digital PCR (ddPCR), circulating free DNA (cfDNA), circulating tumor DNA (ctDNA), adult glioma",

author = "Tune, {B. G.} and H. Sareen and B. Powter and S. Kahana-Edwin and Adam Cooper and E.-S. Koh and Lee, {Cheok S.} and J.W. Po and G. McCowage and M. Dexter and L. Cain and G. O{\textquoteright}Neill and V. Prior and J. Karpelowsky and M. Tsoli and L.O. Baumbusch and D. Ziegler and Roberts, {Tara L.} and Paul DeSouza and Becker, {Therese M.} and Yafeng Ma",

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year = "2023",

month = nov,

language = "English",

volume = "11",

journal = "Biomedicines",

issn = "2227-9059",

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Tune, BG, Sareen, H, Powter, B, Kahana-Edwin, S, Cooper, A, Koh, E-S, Lee, CS, Po, JW, McCowage, G, Dexter, M, Cain, L, O’Neill, G, Prior, V, Karpelowsky, J, Tsoli, M, Baumbusch, LO, Ziegler, D, Roberts, TL, DeSouza, P, Becker, TM & Ma, Y 2023, 'From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients', Biomedicines, vol. 11, no. 11, 2907.

TY - JOUR

T1 - From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients

AU - Tune, B. G.

AU - Sareen, H.

AU - Powter, B.

AU - Kahana-Edwin, S.

AU - Cooper, Adam

AU - Koh, E.-S.

AU - Lee, Cheok S.

AU - Po, J.W.

AU - McCowage, G.

AU - Dexter, M.

AU - Cain, L.

AU - O’Neill, G.

AU - Prior, V.

AU - Karpelowsky, J.

AU - Tsoli, M.

AU - Baumbusch, L.O.

AU - Ziegler, D.

AU - Roberts, Tara L.

AU - DeSouza, Paul

AU - Becker, Therese M.

AU - Ma, Yafeng

PY - 2023/11

Y1 - 2023/11

N2 - Genetic histone variants have been implicated in cancer development and progression. Mutations affecting the histone 3 (H3) family, H3.1 (encoded by HIST1H3B and HIST1H3C) and H3.3 (encoded by H3F3A), are mainly associated with pediatric brain cancers. While considered poor prognostic brain cancer biomarkers in children, more recent studies have reported H3 alterations in adult brain cancer as well. Here, we established reliable droplet digital PCR based assays to detect three histone mutations (H3.3-K27M, H3.3-G34R, and H3.1-K27M) primarily linked to childhood brain cancer. We demonstrate the utility of our assays for sensitively detecting these mutations in cell-free DNA released from cultured diffuse intrinsic pontine glioma (DIPG) cells and in the cerebral spinal fluid of a pediatric patient with DIPG. We further screened tumor tissue DNA from 89 adult patients with glioma and 1 with diffuse hemispheric glioma from Southwestern Sydney, Australia, an ethnically diverse region, for these three mutations. No histone mutations were detected in adult glioma tissue, while H3.3-G34R presence was confirmed in the diffuse hemispheric glioma patient.

AB - Genetic histone variants have been implicated in cancer development and progression. Mutations affecting the histone 3 (H3) family, H3.1 (encoded by HIST1H3B and HIST1H3C) and H3.3 (encoded by H3F3A), are mainly associated with pediatric brain cancers. While considered poor prognostic brain cancer biomarkers in children, more recent studies have reported H3 alterations in adult brain cancer as well. Here, we established reliable droplet digital PCR based assays to detect three histone mutations (H3.3-K27M, H3.3-G34R, and H3.1-K27M) primarily linked to childhood brain cancer. We demonstrate the utility of our assays for sensitively detecting these mutations in cell-free DNA released from cultured diffuse intrinsic pontine glioma (DIPG) cells and in the cerebral spinal fluid of a pediatric patient with DIPG. We further screened tumor tissue DNA from 89 adult patients with glioma and 1 with diffuse hemispheric glioma from Southwestern Sydney, Australia, an ethnically diverse region, for these three mutations. No histone mutations were detected in adult glioma tissue, while H3.3-G34R presence was confirmed in the diffuse hemispheric glioma patient.

KW - childhood brain cancer

KW - glioblastoma

KW - histone mutations

KW - droplet digital PCR (ddPCR)

KW - circulating free DNA (cfDNA)

KW - circulating tumor DNA (ctDNA)

KW - adult glioma

UR - https://hdl.handle.net/1959.7/uws:74318

UR - http://www.scopus.com/inward/record.url?scp=85178370382&partnerID=8YFLogxK

M3 - Article

SN - 2227-9059

VL - 11

JO - Biomedicines

JF - Biomedicines

IS - 11

M1 - 2907

ER -

From pediatric to adult brain cancer : exploring histone H3 mutations in Australian brain cancer patients

Abstract

Bibliographical note

Open Access - Access Right Statement

Keywords

UN SDGs

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