A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology “high grade neuroepithelial tumor with MN1 alteration” still be relevant?

Sarı, Ramazan; Altinöz, Meriç A.; Özyar, Enis; Danyeli, Ayça Erşen; Elmacı, İlhan

doi:10.1007/s00381-021-05289-3

Cited by 4 publications

(3 citation statements)

References 19 publications

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“…7 Astroblastic pseudorosettes are characterized by cuboidal or columnar cells with varying perivascular acellular regions and vascular and perivascular hyalinization-features that can also be observed with other gliomas including anaplastic astrocytoma and glioblastoma. [1][2][3]8 Therefore, prior to Sturm and colleagues' discovery of CNS high-grade neuroepithelial tumor with MN1 alteration (HGNET-MN1) as a new entity based on modern DNA methylation profiling of primitive neuroectodermal tumors of the CNS in 2016, astroblastomas were previously included under the category of "other gliomas" in the 2016 WHO classification of tumors of the CNS. 9 Currently, no clear histological features for grading astroblastomas have been defined but they can be broadly categorized into low-grade and high-grade, with the latter fulfilling the following parameters: increased cellularity, anaplastic nuclear pattern, high mitotic index (>5/10 high power fields), vascular proliferation, necrosis with pseudopalisades, and MIB-1 proliferative index between 6% and 22%.…”

Section: E T T E R T O T H E E D I T O R a Rare Case Of Pediatric Mn1...mentioning

confidence: 99%

A rare case of pediatric MN1‐altered astroblastoma with concomitant ATM germline mutation

Chou

Nael

Crawford

et al. 2023

Pediatric Blood & Cancer

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Section: E T T E R T O T H E E D I T O R a Rare Case Of Pediatric Mn1...mentioning

confidence: 99%

A rare case of pediatric MN1‐altered astroblastoma with concomitant ATM germline mutation

Chou

Nael

Crawford

et al. 2023

Pediatric Blood & Cancer

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“…Astroblastomas tend to be well-circumcised mass localized to the cerebral hemispheres though recent case reports have demonstrated its rare presentation in the spinal cord in the absence of MN1 alterations [7]. Astroblastic pseudorosettes are characterized by cuboidal or columnar cells with varying perivascular acellular regions, and vascular and perivascular hyalinization; features that can also be observed with other gliomas including anaplastic astrocytoma and glioblastoma [1- 3,8]. Therefore, prior to Strum and colleagues discovery of CNS high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) as a new entity based on modern DNA methylation profiling of primitive neuroectodermal tumors of the CNS in 2016, astroblastomas were previously included under the category of "other gliomas" in the 2016 WHO classification of tumors of the CNS [9].…”

Section: Introductionmentioning

confidence: 99%

A Rare Case of Pediatric Mn1 Altered Astroblastoma With Concomitant Atm Germline Mutation

Chou

Nael

Crawford

et al. 2023

Preprint

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Astroblastoma is a rare brain tumor that has recently emerged as a new entity in the 2021 WHO classification of tumors of the central nervous system (CNS), based on its peculiar histopathologic feature and association with MN1 alteration. We report an unique case of MN1- altered astroblastoma with concomitant ATM germline mutation. A 10-year-old girl presented with nausea and vomiting due to a large temporal parietal tumor. Gross total resection was achieved and the integrated molecular diagnosis of MN1-altered astroblastoma was made based on DNA methylation profiling. Next-Generation Sequencing (NGS) confirmed a MN1-BEND2 fusion and germline sequencing revealed an ATM gene heterozygous pathogenic variant. Radiation therapy was deferred given the possible association of heterozygous ATM mutation with increased risk of breast cancer and radiosensitivity. This case highlights the therapeutic implications of germline molecular findings in the treatment of astroblastoma and the need for further investigations to define a more standardized approach for treating this rare pediatric tumor.

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“…Astroblastomas are rare tumours of the central nervous system with a predilection for young females [1]. They are defined by the 2021 WHO classification as a distinct entity -Astroblastoma MN-1 altered, within the category of circumscribed astrocytic gliomas [2].…”

Section: Introductionmentioning

confidence: 99%

Primary Intramedullary Spinal Cord Astroblastoma with EWSR1/BEND2 Fusion: A Case Report and Literature Review

Ming-Sheng,

Catherine,

Alan

2023

Neurosurg Cases Rev

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with total surgical resection. CaseA 45-year-old female with no significant background medical history presented to the outpatients department of our institution with a six month history of progressive myelopathy. Her symptoms began with tingling in the fingers bilaterally, which slowly progressed to reduced dexterity and clumsiness. On examination, tone and power were intact in the muscle groups of all four limbs. She was hyper-reflexic throughout, with bilateral Hoffmann's sign, Babinski's sign, and clonus. Sensation was reduced in the fingers and the feet bilaterally and not in any particular dermatomal distribution, but proprioception was preserved. She had difficulty finger tapping. Her gait was normal.MRI imaging of her cervical spine (Figure 1) revealed an intramedullary lesion from C4 to C6, which was relatively well demarcated post-Gadolinium enhancement, with the radiological differential diagnosis including an ependymoma or astrocytoma. There was also significant associated oedema within the cervical spinal cord. Given the imaging findings and clinical progression, surgery was performed.A posterior approach was taken and C3 to C6 laminectomies performed. The spinal cord was visibly under pressure following durotomy. Intraoperative neurophysiological monitoring was employed and a midline myelotomy was performed with the assistance of dorsal column mapping. A soft pale grey and tan lesion was encountered which was relatively avascular.

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A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology “high grade neuroepithelial tumor with MN1 alteration” still be relevant?

Cited by 4 publications

References 19 publications

A rare case of pediatric MN1‐altered astroblastoma with concomitant ATM germline mutation

A rare case of pediatric MN1‐altered astroblastoma with concomitant ATM germline mutation

A Rare Case of Pediatric Mn1 Altered Astroblastoma With Concomitant Atm Germline Mutation

Primary Intramedullary Spinal Cord Astroblastoma with EWSR1/BEND2 Fusion: A Case Report and Literature Review

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