Prospective feasibility and safety assessment of surgical biopsy for patients with newly diagnosed diffuse intrinsic pontine glioma

Gupta, Nalin; Goumnerova, Liliana; Manley, Peter; Susan, N.; Neuberg, Donna; Puligandla, Mäneka; Fangusaro, Jason; Goldman, Stewart; Tomita, Tadanori; Alden, Tord D.; DiPatri, Arthur J.; Rubin, Joshua B.; Gauvain, Karen; Limbrick, David D.; Leonard, Jeffrey R.; Geyer, James R.; Leary, Sarah; Browd, Samuel R.; Wang, Zhihong; Sood, Sandeep; Bendel, Anne; Nagib, Mahmoud G.; Gardner, Sharon; Karajannis, Matthias A.; Harter, David H.; Ayyanar, Kanyalakshmi; Gump, William; Bowers, Daniel C.; Weprin, Bradley E.; MacDonald, Tobey J.; Aguilera, Dolly; Brahma, Barunashish; Robison, Nathan; Kiehna, Erin N.; Krieger, Mark D.; Sandler, Eric; Aldana, Philipp R.; Khatib, Ziad; Ragheb, John; Bhatia, Sanjiv; Mueller, Sabine; Banerjee, Anu; Bredlau, Amy Lee; Gururangan, S.; Fuchs, Herbert E.; Cohen, Kenneth J.; Jallo, George I.; Dorris, Kathleen; Handler, Michael; Comito, Melanie; Dias, Mark S.; Nazemi, Kellie; Baird, Lissa C.; Murray, Jeff; Lindeman, Neal I.; Hornick, Jason L.; Malkin, Hayley; Sinai, Claire; Greenspan, Lianne; Wright, Karen; Prados, Michael D.; Bandopadhayay, Pratiti; Ligon, Keith L.; Kieran, Mark W.

doi:10.1093/neuonc/noy070

Cited by 95 publications

(63 citation statements)

References 16 publications

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“…Stereotactic needle biopsy was performed via a middle cerebellar peduncle approach, using frameless navigation. Standardization of surgical procedures at different centers was done by preenrollment training of participating neurosurgeons through the study neurosurgical chair (NG) as described previously . A board‐certified neuropathologist verified the diagnosis of a diffuse glial neoplasm and estimated tumor percentage.…”

Section: Methodsmentioning

confidence: 99%

“…Standardization of surgical procedures at different centers was done by preenrollment training of participating neurosurgeons through the study neurosurgical chair (NG) as described previously. 6,11 A board-certified neuropathologist verified the diagnosis of a diffuse glial neoplasm and estimated tumor percentage. If tumor content was at least 50%, specimens were de-identified and sent to Ashion Analytics.…”

Section: Sample Collection and Processingmentioning

confidence: 99%

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A pilot precision medicine trial for children with diffuse intrinsic pontine glioma—PNOC003: A report from the Pacific Pediatric Neuro‐Oncology Consortium

Mueller

Jain

Liang

et al. 2019

Intl Journal of Cancer

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This clinical trial evaluated whether whole exome sequencing (WES) and RNA sequencing (RNAseq) of paired normal and tumor tissues could be incorporated into a personalized treatment plan for newly diagnosed patients (<25 years of age) with diffuse intrinsic pontine glioma (DIPG). Additionally, whole genome sequencing (WGS) was compared to WES to determine if WGS would further inform treatment decisions, and whether circulating tumor DNA (ctDNA) could detect the H3K27M mutation to allow assessment of therapy response. Patients were selected across three Pacific Pediatric Neuro‐Oncology Consortium member institutions between September 2014 and January 2016. WES and RNAseq were performed at diagnosis and recurrence when possible in a CLIA‐certified laboratory. Patient‐derived cell line development was attempted for each subject. Collection of blood for ctDNA was done prior to treatment and with each MRI. A specialized tumor board generated a treatment recommendation including up to four FDA‐approved agents based upon the genomic alterations detected. A treatment plan was successfully issued within 21 business days from tissue collection for all 15 subjects, with 14 of the 15 subjects fulfilling the feasibility criteria. WGS results did not significantly deviate from WES‐based therapy recommendations; however, WGS data provided further insight into tumor evolution and fidelity of patient‐derived cell models. Detection of the H3F3A or HIST1H3B K27M (H3K27M) mutation using ctDNA was successful in 92% of H3K27M mutant cases. A personalized treatment recommendation for DIPG can be rendered within a multicenter setting using comprehensive next‐generation sequencing technology in a clinically relevant timeframe.

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Section: Methodsmentioning

confidence: 99%

Section: Sample Collection and Processingmentioning

confidence: 99%

A pilot precision medicine trial for children with diffuse intrinsic pontine glioma—PNOC003: A report from the Pacific Pediatric Neuro‐Oncology Consortium

Mueller

Jain

Liang

et al. 2019

Intl Journal of Cancer

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“…Until recently, the diagnosis of DIPG was principally made by imaging, with biopsy relegated to an ancillary role owing to the delicate anatomic location [1]. However, with improved surgical techniques [4,14] and the discovery of canonical histone H3 lysine-27-methionine (H3K27M) driver mutations, direct examination of these lesions to distinguish DIPG from radiologic mimics has reemerged as an important component of the diagnostic process [17,19].…”

mentioning

confidence: 99%

Diffuse intrinsic pontine glioma-like tumor with EZHIP expression and molecular features of PFA ependymoma

Pratt

Quezado

Abdullaev

et al. 2020

acta neuropathol commun

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“…This study concluded that tissue biopsies in DIPG have a high diagnostic yield associated with minimal morbidity and resulted in a consensus meeting in Paris in 2011 where it was agreed that biopsy of brain stem gliomas is technically safe with acceptable risks to inform on optimal therapeutic interventions [21]. Since then, similar clinical studies have continued to prove that there is minimal risk of persistent morbidity or mortality associated with the procedure whilst providing valuable pathologic and histologic insights [22][23][24].…”

Section: Stereotactic Biopsymentioning

confidence: 98%

Diffuse Intrinsic Pontine Glioma: Translation of Genomic Knowledge to Clinical Practice

hou¹,

Khan²,

Firestein³

et al. 2018

obm neurobiol

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Pediatric brain tumors account for approximately 25% of all cancers in children and are currently the leading cause of cancer-related deaths in the pediatric population with an estimated incidence of 5.14 cases per 100,000 person years [1]. Up to 10-15% of all pediatric brain tumors arise in the brainstem, with the majority of these classified as the diffuse intrinsic pontine glioma (DIPG) subtype [2]. The outcome of children with DIPG remains dismal with a median survival of <1 year. Owing to the unique location of DIPGs, surgical intervention is unachievable due to difficulty of physical access and the diffuse infiltration of the tumor throughout the pons. Radiotherapy has thus far been the only method identified to provide transient benefit in the setting of a uniformly fatal outcome. Decades of laboratory studies and clinical trials have failed to identify any chemotherapies delivering survival benefit, either alone or as an adjunct to radiotherapy. Advances in surgical biopsy techniques and next generation sequencing modalities have more recently provided a better understanding of the distinct pathophysiology of DIPGs and opened new windows of opportunity for the development of molecular-targeted therapies with hope of delivering more effective treatment for children suffering from DIPG whilst minimizing systemic toxicity. In this review, we will explore the recent advances in the genomic understanding and treatment of DIPG, and the resulting outcomes of the preclinical and clinical drug trials which are guiding the next wave of therapeutic discovery for this disease of unmet clinical need.

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Prospective feasibility and safety assessment of surgical biopsy for patients with newly diagnosed diffuse intrinsic pontine glioma

Abstract: Surgical biopsy of DIPGs is technically feasible, associated with acceptable risks, and can provide biologic data that can inform treatment decisions.

Cited by 95 publications

References 16 publications

A pilot precision medicine trial for children with diffuse intrinsic pontine glioma—PNOC003: A report from the Pacific Pediatric Neuro‐Oncology Consortium

A pilot precision medicine trial for children with diffuse intrinsic pontine glioma—PNOC003: A report from the Pacific Pediatric Neuro‐Oncology Consortium

Diffuse intrinsic pontine glioma-like tumor with EZHIP expression and molecular features of PFA ependymoma

Diffuse Intrinsic Pontine Glioma: Translation of Genomic Knowledge to Clinical Practice

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