Abstract
AB095. Methylation class infant-type hemispheric glioma with CDKN2A/B deletion: a rare case report
Mohammad Galih Pratama, Kevin Gunawan, Mohamad Saekhu, David Tandian, Samsul Ashari, Hanif Gordang Tobing, Wismaji Sadewo, Syaiful Ichwan, Affan Priyambodo, Ande Fachniadin, Renindra Ananda Aman, Setyo Widi Nugroho
Department of Neurosurgery, Faculty of Medicine Universitas Indonesia, Dr. Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia
Correspondence to: Mohammad Galih Pratama, MD. Department of Neurosurgery, Faculty of Medicine Universitas Indonesia, Dr. Cipto Mangunkusumo National General Hospital, Jl. Diponegoro No. 71 Jakarta Pusat, Jakarta 10430, Indonesia. Email: Galihpratama14@gmail.com.
Background: Gliomas are the most common central nervous system (CNS) tumors in infant but with incidence rate only 1.38 per 100,000. Due to distinctive clinical, histologic, and molecular features, the current World Health Organization (WHO) CNS5 separate gliomas in children from adult as pediatric-type diffuse high-grade and low-grade gliomas. Infant hemispheric gliomas constitute a biologically and clinically distinct subgroup of pediatric-type diffuse high-grade. In this case we present clinical, radiographic, intraoperative, and methylation profiling of the first infant-type hemispheric glioma diagnosed in Indonesia.
Case Description: This is a case report of infant operated at Dr. Cipto Mangunkusumo National General Hospital, Jakarta, Indonesia in February 2024. A 6-month-old male infant brought to regional hospital due to head enlargement compared to infant of the same age, head circumference was 50 cm [>2 standard deviation (SD)] with frontal bossing. Brain MRI showed large multi-loculated cystic lesion at left parietooccipital region, which appeared hypointense on T1-weithgted (T1W), hyperintense on T2-weighted (T2W) and fluid-attenuated inversion recovery (FLAIR), with irregular contrast enhancing border. There was isointense lesion on T1W with inhomogeneous contrast enhancement. The largest volume of cystic lesion was 216 cm. Intraoperatively, parietal bone was thinner than usual. The brain was tense, purplish, and non-pulsating, giving the impression of a tumor with indistinct borders with the normal cortex. Dark clear yellowish fluid was spurt after the cortex was incised. Histopathological findings revealed moderate to high cellularity tumor tissue with mitosis, microvascular proliferation, palisading necrosis. In collaboration with German Cancer Research Center (DKFZ), DNA methylation array analysis showed the tumor to match the Infant-type Hemispheric Glioma methylation class (calibrated score 0.94) with deletion of cyclin dependent kinase inhibitor 2A/B (CDKN2A/B).
Conclusions: Methylation class (MC) infant-type hemispheric glioma may present with macrocephaly. On magnetic resonance imaging (MRI) it may appear as large multi-loculated cystic lesion and irregular contrast enhancing border. The key diagnostic criteria for infant-type hemispheric glioma involve combination of clinical, pathological, and molecular feature.
Keywords: Infant-type hemispheric glioma; methylation; cyclin dependent kinase inhibitor 2A/B (CDKN2A/B); case report
Acknowledgments
Funding: None.
Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://cco.amegroups.com/article/view/10.21037/cco-24-ab095/coif). The authors have no conflicts of interest to declare.
Ethical Statement: The authors are accountable for all aspects of the work and ensure that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and national research committees and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.
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Cite this abstract as: Pratama MG, Gunawan K, Saekhu M, Tandian D, Ashari S, Tobing HG, Sadewo W, Ichwan S, Priyambodo A, Fachniadin A, Aman RA, Nugroho SW. AB095. Methylation class infant-type hemispheric glioma with CDKN2A/B deletion: a rare case report. Chin Clin Oncol 2024;13(Suppl 1):AB095. doi: 10.21037/cco-24-ab095
