MN1 rearrangement in astroblastoma: study of eight cases and review of literature

Mhatre, Radhika; Sugur, Harsha; Nandeesh, Bevinahalli N; Chickabasaviah, Yasha T; Saini, Jitender; Santosh, Vani

doi:10.1007/s10014-019-00346-x

Cited by 45 publications

(35 citation statements)

References 16 publications

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“…With the advancement of gene identi cation technology, numerous speci c genes have been identi ed in astroblastomas. The most frequent gene alterations detected were MN1 mutation, gain of chromosome arm 20q and chromosome 19, loss of 9q, 10 and X [18][19][20]. These ndings suggested that astroblastomas represent a distinct entity with characteristic cytogenetic features that differ from those of ependymomas and astrocytomas.…”

Section: Discussionmentioning

confidence: 88%

Cerebral astroblastoma with oligodendroglial-like cells：A case report

Gu¹,

Yu²,

Xu³

et al. 2020

Preprint

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Background: Astroblastoma is a rare tumor of the central nervous system, with unclear biological behavior and origin. Its histopathological features have been well established. However, to the best of our knowledge, astroblastoma with oligodendroglial-like cells have not been reported. Case presentation: Herein, we reported a case of astroblastoma with atypical pathological features. A 15-year-old girl presented with nausea, vomiting, headache and visual disturbance. Magnetic resonance imaging (MRI) revealed a large neoplasm in the left temporal lobe. Histologically, the tumor showed solid and pseudopapillary structure. The tumor cells were radially arranged around blood vessels, with a single, prominent process, and as astroblastic pseudorosettes. More importantly, typical oligodendroglial-like cells were observed. In addition to membrane staining for EMA, immunohistochemical staining also showed that the tumor cells were positive for GFAP and Vimentin. The oligodendroglial-like cells were positive for GFAP, Vimentin, and Olig-2. The Ki-67 labeling index was about 4%. Sequencing for IDH1 codon 132 and IDH2 codon 172 gene mutations showed negative results. Furthermore, fluorescent analysis revealed neither 1p nor 19q deletion in the lesion. Based on these findings, the tumor was finally diagnosed as astroblastoma. Conclusions: Herein, we reported an extremely rare case of astroblastoma, which was morphologically characterized by the appearance of oligodendroglial-like cells.

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Section: Discussionmentioning

confidence: 88%

Cerebral astroblastoma with oligodendroglial-like cells：A case report

Gu¹,

Yu²,

Xu³

et al. 2020

Preprint

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“…rearranged tumors could be associated with a favorable prognosis and indolent course, our experience suggests a more aggressive clinical course 6,9. The majority of CNS-HGNET-MN1 tumors were initially classified as astroblastoma or ependymoma, however some were even diagnosed as PNET, suggesting initial therapies were highly heterogeneous.…”

mentioning

confidence: 78%

“…4 CNS HGNET-MN1 is a poorly defined entity with an indeterminant biological and clinical behavior rendering it very difficult to ascribe treatment recommendations. Although there have been only individual cases or small series, [5][6][7][8] there is a paucity of data to propose a standard therapy, primarily due to the rarity of the condition resulting in any individual center having a limited clinical experience. Herein, we describe our experience with the radiologic features, treatment, and outcome of an international cohort of CNS HGNET-MN1 tumors.…”

mentioning

confidence: 99%

Treatment response of CNS high‐grade neuroepithelial tumors with MN1 alteration

Baroni

Rugilo

Lubieniecki

et al. 2020

Pediatric Blood & Cancer

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Central nervous system high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) is a rare recently described entity. Fourteen CNS HGNET-MN1 patients were identified using genome-wide methylation arrays/RT-PCR across seven institutions. All patients had surgery (gross total resection: 10; subtotal resection: four) as initial management followed by observation alone in three patients, followed by radiotherapy in eight patients (focal: five; craniospinal: two; CyberKnife: one) and systemic chemotherapy in three patients. Seven patients relapsed; five local and two

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“…[ 12 ] A case series reported a MN1 (meningioma 1 gene) rearrangement detected by Florescent in situ hybridization in five out of eight cases tested, which can be a potential confirmatory immunohistochemistry marker. [ 14 ]…”

Section: Discussionmentioning

confidence: 99%

A rare case of a high-grade astroblastoma with 5-year follow-up

et al. 2021

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Astroblastoma is a very rare glial tumor derived from astroblasts. It has been controversial in terms of its features and diagnosis. The objective of this report is to present the findings of the high-grade astroblastoma with a good prognosis in a 21-year-old female who presented to us with diplopia and headache. While imaging led to the foremost differentials of pleomorphic xanthoastrocytoma and Ganglioglioma which are low-grade neoplasms, the final diagnosis was established on microscopy and immunohistochemistry after excision. Treatment protocol included surgery with postoperative radiotherapy and chemotherapy. Due to controversial and limited literature, this tumor poses difficulties in diagnosis and management. This is a rare, successfully managed case of astroblastoma with a positive outcome 5 years after the diagnosis was established. In this case report, we review the steps of diagnosis, the differentials, the pathological and histological features, and the management of this rare entity.

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MN1 rearrangement in astroblastoma: study of eight cases and review of literature

Cited by 45 publications

References 16 publications

Cerebral astroblastoma with oligodendroglial-like cells：A case report

Cerebral astroblastoma with oligodendroglial-like cells：A case report

Treatment response of CNS high‐grade neuroepithelial tumors with MN1 alteration

A rare case of a high-grade astroblastoma with 5-year follow-up

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