A Case of Prenatal Neurocytoma Associated With ATR‐16 Syndrome

Quadrifoglio, Mariachiara; Faletra, Flavio; Bussani, Rossana; Pecile, Vanna; Zennaro, Floriana; Grasso, A.; Zandonà, Lorenzo; Alberico, Salvatore; Stampalija, Tamara

doi:10.7863/ultra.15.07045

Cited by 3 publications

(3 citation statements)

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“…However, we could not detect compensatory upregulation of the homologues of deleted genes. Recently, a case of ATR-16 was reported with a~948 kb deletion who presented with a neuroblastoma in utero 31. These authors speculate that haploinsufficiency of the tumour suppressor AXIN1 may have contributed to the neuroblastoma.…”

Section: Discussionmentioning

confidence: 99%

ATR-16 syndrome: mechanisms linking monosomy to phenotype

et al. 2020

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BackgroundDeletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, understanding the contribution of the deletion to an individual’s clinical phenotype is challenging.MethodsHere, as an example of this common phenomenon, we analysed 41 patients with simple deletions of ~177 to ~2000 kb affecting one allele of the well-characterised, gene dense, distal region of chromosome 16 (16p13.3), referred to as ATR-16 syndrome. We characterised deletion extents and screened for genetic background effects, telomere position effect and compensatory upregulation of hemizygous genes.ResultsWe find the risk of developmental and neurological abnormalities arises from much smaller distal chromosome 16 deletions (~400 kb) than previously reported. Beyond this, the severity of ATR-16 syndrome increases with deletion size, but there is no evidence that critical regions determine the developmental abnormalities associated with this disorder. Surprisingly, we find no evidence of telomere position effect or compensatory upregulation of hemizygous genes; however, genetic background effects substantially modify phenotypic abnormalities.ConclusionsUsing ATR-16 as a general model of disorders caused by CNVs, we show the degree to which individuals with contiguous gene syndromes are affected is not simply related to the number of genes deleted but depends on their genetic background. We also show there is no critical region defining the degree of phenotypic abnormalities in ATR-16 syndrome and this has important implications for genetic counselling.

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Section: Discussionmentioning

confidence: 99%

ATR-16 syndrome: mechanisms linking monosomy to phenotype

et al. 2020

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“…Central and extraventricular neurocytomas are rare central nervous system tumors of neuronal origin recognized by the fifth edition of World Health Organization (WHO) classification of tumors of the central nervous system that were first described histologically in 1982 [1,2]. These tumors account for only 0.1-0.5% of all brain tumors with a reported overall annual incidence of 0.032 per 100,000 population, initial presentation age ranging from the prenatal period to 81 years of age, and peak age of diagnosis at 20-34 years of age [3][4][5][6]. Neurocytomas are subdivided into central neurocytomas (CNs), located within the ventricular system, and extraventricular neurocytomas (EVNs) owing to their similar histologic characteristics but variable regional occurrence and clinical presentations [7].…”

Section: Introductionmentioning

confidence: 99%

The role of methylation profiling in histologically diagnosed neurocytoma: a case series

et al. 2022

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Purpose To highlight the clinical, neuroradiographic, neuropathologic, and molecular features of histologically identified neurocytoma in a pediatric cohort and highlight the evolving use methylation profiling in providing diagnostic clarity in difficult to diagnosis pediatric brain tumors. Methods Five consecutive children (ages 9–13, 2 girls 3 boys) were histologically diagnosed with neurocytoma at Rady Children’s Hospital San Diego from 2012 to 2018. Clinical and molecular features were analyzed with regards to treatment course and outcome. Results Presenting symptoms included seizures (n = 2), syncope (n = 1), headache (n = 2), visual disturbances (n = 2) and emesis (n = 2). Tumor location included intraventricular (n = 2), intraventricular with parenchymal spread (n = 1), and extraventricular (n = 2). Magnetic resonance imaging demonstrated reduced diffusivity (2/5), signal abnormality on susceptibility-weighted sequences (3/5), and varying degrees of contrast enhancement (4/5). All patients underwent surgical resection alone. Recurrence occurred in four children that were treated with surgery (4/4), adjuvant radiation (2/4), and chemoradiation (1/4). Neuropathologic features included positivity for GFAP (4/5), synaptophysin (4/5), NSE (2/2), NeuN (4/4), and variable Ki-67 (< 1% to 15%). Next generation sequencing (3/5) and microarray (3/5) collectively were abnormal in four of five tumors. Methylation profiling was successfully performed on four of five samples which led to modification of diagnosis in two patients and the others were either unclassifiable or confirmatory with the histologic diagnosis. Mean time to follow up was 77 months (range 44–112 months). Mean progression free survival and overall survival were 24 months (range 6 to 52 months) and 100% respectively. Conclusion Neurocytomas are a rare clinical entity that warrants further investigation into molecular and pathologic prognosticating features. Methylation profiling may aid in differentiation of neurocytoma from other difficult to diagnose tumors who share similar histologic features.

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“…2 6 We could not detect compensatory up-regulation of the homologues of 2 7 deleted genes. Recently, a case of ATR-16 was reported with a ~948 kb deletion and 2 8 who presented with a neuroblastoma in utero (Quadrifoglio et al, 2016). These 2 9 authors speculate that haploinsufficiency of the tumour suppressor AXIN1 may have 3 0…”

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ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

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Horsley

et al. 2019

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1 2 Background: Sporadic deletions removing 100s-1000s kb of DNA, and 3 variable numbers of poorly characterised genes, are often found in patients 4 with a wide range of developmental abnormalities. In such cases, 5 understanding the contribution of the deletion to an individual's clinical 6 phenotype is challenging. 7 Methods: Here, as an example of this common phenomenon, we analysed 8 34 patients with simple deletions of ~177 to ~2000 kb affecting one allele of 9 the well characterised, gene dense, distal region of chromosome 16

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A Case of Prenatal Neurocytoma Associated With ATR‐16 Syndrome

Abstract: A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrom

Cited by 3 publications

References 9 publications

ATR-16 syndrome: mechanisms linking monosomy to phenotype

ATR-16 syndrome: mechanisms linking monosomy to phenotype

The role of methylation profiling in histologically diagnosed neurocytoma: a case series

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

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