“…Meta-analysis of patient outcomes and other clinical data together with previous case reports revealed occurrence during childhood or early adulthood, location most frequently in midline structures (5/7 in the brainstem or spinal cord), and a propensity for local recurrence, with CSF dissemination occurring in two patients leading to mortality (Fig. 1 f–h) [ 9 , 10 , 12 , 14 ]. Fig.…”
mentioning
confidence: 78%
“…The identification of MN1 fusion by next-generation sequencing or MN1 rearrangement by break-apart fluorescent in situ hybridization (FISH) can be used to support the diagnosis of "astroblastoma, MN1altered" per recent cIMPACT-NOW recommendations [8], and this molecularly-defined tumor type has been adopted in the 5 th edition of the WHO Classification of Tumors of the Central Nervous System [4]. Of note, however, are a few recent case reports of gliomas with astroblastoma-like histology lacking MN1 alterations and instead harboring EWSR1-BEND2 fusion [9,10,12,14]. The biologic relationship of these gliomas with EWSR1-BEND2 fusion compared to the We performed targeted next-generation sequencing and genome-wide DNA methylation profiling on a cohort of four patients with EWSR1-BEND2 fused gliomas.…”
“…Meta-analysis of patient outcomes and other clinical data together with previous case reports revealed occurrence during childhood or early adulthood, location most frequently in midline structures (5/7 in the brainstem or spinal cord), and a propensity for local recurrence, with CSF dissemination occurring in two patients leading to mortality (Fig. 1 f–h) [ 9 , 10 , 12 , 14 ]. Fig.…”
mentioning
confidence: 78%
“…The identification of MN1 fusion by next-generation sequencing or MN1 rearrangement by break-apart fluorescent in situ hybridization (FISH) can be used to support the diagnosis of "astroblastoma, MN1altered" per recent cIMPACT-NOW recommendations [8], and this molecularly-defined tumor type has been adopted in the 5 th edition of the WHO Classification of Tumors of the Central Nervous System [4]. Of note, however, are a few recent case reports of gliomas with astroblastoma-like histology lacking MN1 alterations and instead harboring EWSR1-BEND2 fusion [9,10,12,14]. The biologic relationship of these gliomas with EWSR1-BEND2 fusion compared to the We performed targeted next-generation sequencing and genome-wide DNA methylation profiling on a cohort of four patients with EWSR1-BEND2 fused gliomas.…”
“…All samples were sequenced for all exons of SMARCB1 using the primers listed in Table 1. The presence of SMARCB1 deletion was assessed by array comparative genomic hybridization (CGH) using a 4×180 K CGH oligonucleotide microarray (Agilent Technologies, Santa Clara, CA, USA), as previously reported 6 . Known pathogenic variants causing the loss of function of SMARCB1 were identified in exon 9 (p.R201*) and exon 5 (c.1145/8delC) in the renal tumor and brain tumor, respectively (Fig.…”
We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney.
“…We have uncovered little information regarding BEND2, 4, and 7. Several studies showed that in-frame MN1-BEND2, EWSR1-BEND2, and CHD7-BEND2 gene fusions were detectable in brain and pancreatic neuroendocrine tumors (67)(68)(69).…”
The chromatin state undergoes global and dynamic changes during spermatogenesis, and is critical to chromosomal synapsis, meiotic recombination, and transcriptional regulation. However, the key regulators involved and the underlying molecular mechanisms remain poorly understood. Herein we report that mouse BEND2, one of the BEN-domain-containing proteins conserved in vertebrates, was specifically expressed in spermatogenic cells within a short time-window spanning meiotic initiation, and that it plays an essential role in the progression of prophase in meiosis I. Bend2 gene knockout in male mice arrested meiosis at the transition from zygonema to pachynema, disrupted synapsis and DNA double-strand break repair, and induced non-homologous chromosomal pairing. BEND2 interacted with a number of chromatin-associated proteins—including ZMYM2, LSD1, CHD4, and ADNP— which are components of certain transcription-repressor complexes. BEND2-binding sites were identified in diverse chromatin states and enriched in simple sequence repeats. BEND2 contributed to shutting down the mitotic gene-expression program and to the activation of meiotic and post-meiotic gene expression, and it regulated chromatin accessibility as well as the modification of H3K4me3. Therefore, our study identified BEND2 as a novel and key regulator of meiosis, gene expression, and chromatin state during mouse spermatogenesis.TeaserMeiosis is a highly complex yet poorly understood process that involves the concerted actions of an increasing number of regulators, of which the list remains incomplete. Ma et al. identified BEND2 as a novel and key regulator of meiosis and showed that it interacts with critical chromatin modulators and specific genomic elements to control the expression of mitotic and meiotic genes.
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