Embryonal tumors with multilayered rosettes: A tertiary care centre experience

Kumar, Narendra; Madan, Renu; Gupta, Kanika; Chatterjee, Debajyoti; Uppal, DK; Goyal, Shikha; Ballari, Nagarjun; Khosla, Divya; Sahoo, Santosh Kumar; Ahuja, Chirag Kamal

doi:10.1016/j.clineuro.2021.106508

Cited by 3 publications

(3 citation statements)

References 31 publications

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“…9,10 The cell of origin in ETMR remains unclear, but it has been hypothesized to be the apical radial glia cells of the ventricular zone. 11,12 ETMR in the nearby CPA has been cited a few times, including in three child patients in a case series from India 13 and an 18-month-old female infant in Saudi Arabia. 14 The rarity of ETMR in adults makes the diagnosis challenging and can lead to diagnostic delay, which complicates management due to its rapid progression.…”

Section: Discussionmentioning

confidence: 99%

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Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations

Sheriff,

Takami,

Takayanagi

et al. 2023

Neuropathology

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Embryonal tumors with multilayered rosettes (ETMRs) are aggressive central nervous system (CNS) tumors that usually occur in young children. Here, we describe the first incidence of ETMR in an adult patient that also originated in the novel location of the internal auditory canal (IAC). The 36‐year‐old patient initially presented with unsteadiness, diplopia, and tinnitus. The tumor in the IAC was discovered on brain magnetic resonance imaging, and gross total resection was performed followed by pathological and molecular diagnosis. The patient received whole brain and spinal cord radiotherapy after an intracranial recurrence and adjuvant chemotherapy consisting of four cycles of ifosfamide, cisplatin, and etoposide. Progression was rapid; however, the patient survived for 22 months after diagnosis before succumbing to the disease. Molecular investigation revealed a DICER1 mutation at exon 25, and methylation classification categorized the tumor as ETMR, non‐C19MC‐altered. This case underscores the diverse possible presentations of ETMR, DICER1‐mutated and the importance of molecular techniques to characterize and promptly treat atypical ETMR.

show abstract

Section: Discussionmentioning

confidence: 99%

“…The cell of origin in ETMR remains unclear, but it has been hypothesized to be the apical radial glia cells of the ventricular zone 11,12 . ETMR in the nearby CPA has been cited a few times, including in three child patients in a case series from India 13 and an 18‐month‐old female infant in Saudi Arabia 14 …”

Section: Discussionmentioning

confidence: 99%

Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations

Sheriff,

Takami,

Takayanagi

et al. 2023

Neuropathology

View full text Add to dashboard Cite

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“…Embryonal tumor with multilayered rosettes (ETMR) is a sporadic and difficult-to-treat brain tumor in infants and young children, with rapid progression and only 10-20% overall survival 194,195 . Because there are few research models, mechanistic and therapeutic studies of this rare disease are extremely limited.…”

Section: Sesmentioning

confidence: 99%

Superenhancers as master gene regulators and novel therapeutic targets in brain tumors

Zhuang

Teng

et al. 2023

Exp Mol Med

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Transcriptional deregulation, a cancer cell hallmark, is driven by epigenetic abnormalities in the majority of brain tumors, including adult glioblastoma and pediatric brain tumors. Epigenetic abnormalities can activate epigenetic regulatory elements to regulate the expression of oncogenes. Superenhancers (SEs), identified as novel epigenetic regulatory elements, are clusters of enhancers with cell-type specificity that can drive the aberrant transcription of oncogenes and promote tumor initiation and progression. As gene regulators, SEs are involved in tumorigenesis in a variety of tumors, including brain tumors. SEs are susceptible to inhibition by their key components, such as bromodomain protein 4 and cyclin-dependent kinase 7, providing new opportunities for antitumor therapy. In this review, we summarized the characteristics and identification, unique organizational structures, and activation mechanisms of SEs in tumors, as well as the clinical applications related to SEs in tumor therapy and prognostication. Based on a review of the literature, we discussed the relationship between SEs and different brain tumors and potential therapeutic targets, focusing on glioblastoma.

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Essential Management of Pediatric Brain Tumors

2022

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Brain tumors are the most common solid tumors in children and are associated with high mortality. The most common childhood brain tumors are grouped as low-grade gliomas (LGG), high grade gliomas (HGG), ependymomas, and embryonal tumors, according to the World Health Organization (WHO). Advances in molecular genetics have led to a shift from pure histopathological diagnosis to integrated diagnosis. For the first time, these new criteria were included in the WHO classification published in 2016 and has been further updated in the 2021 edition. Integrated diagnosis is based on molecular genomic similarities of the tumor subclasses, and it can better explain the differences in clinical courses of previously histopathologically identical entities. Important advances have also been made in pediatric neuro-oncology. A growing understanding of the molecular-genetic background of tumorigenesis has improved the diagnostic accuracy. Re-stratification of treatment protocols and the development of targeted therapies will significantly affect overall survival and quality of life. For some pediatric tumors, these advances have significantly improved therapeutic management and prognosis in certain tumor subgroups. Some therapeutic approaches also have serious long-term consequences. Therefore, optimized treatments are greatly needed. Here, we discuss the importance of multidisciplinary collaboration and the role of (pediatric) neurosurgery by briefly describing the most common childhood brain tumors and their currently recognized molecular subgroups.

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Embryonal tumors with multilayered rosettes: A tertiary care centre experience

Cited by 3 publications

References 31 publications

Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations

Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations

Superenhancers as master gene regulators and novel therapeutic targets in brain tumors

Essential Management of Pediatric Brain Tumors

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