Evidence map›Paper›PMID 36611369›Full record

ArticleDiagnostics (Basel, Switzerland)2022

Antonio d'Amati, Arianna Nicolussi, Evelina Miele, Angela Mastronuzzi, Sabrina Rossi, Francesca Gianno, Francesca Romana Buttarelli, Simone Minasi, Pietro Lodeserto, Marina Paola Gardiman and 6 more

Abstract read
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Antonio d'AmatiAnatomic Pathology Unit, Department of Emergency and Organ Transplantation, University of Bari, 70124 Bari, Italy.ORCID 0000-0002-4810-1201
Arianna NicolussiDepartment of Molecular Medicine, University La Sapienza, 00161 Rome, Italy.
Evelina MieleDepartment of Pediatric Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-4747-1032
Angela MastronuzziDepartment of Pediatric Onco-Hematology and Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.ORCID 0000-0002-4408-2373
Sabrina RossiPathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Francesca GiannoDepartment of Radiological, Oncological and Anatomo-Pathological Sciences, University La Sapienza, 00161 Rome, Italy.ORCID 0000-0002-6223-9952
Francesca Romana ButtarelliDepartment of Radiological, Oncological and Anatomo-Pathological Sciences, University La Sapienza, 00161 Rome, Italy.ORCID 0000-0001-5892-1281
Simone MinasiDepartment of Radiological, Oncological and Anatomo-Pathological Sciences, University La Sapienza, 00161 Rome, Italy.ORCID 0000-0002-8872-6409
Pietro LodesertoDepartment of Radiological, Oncological and Anatomo-Pathological Sciences, University La Sapienza, 00161 Rome, Italy.
Marina Paola GardimanSurgical Pathology Unit, Department of Medicine (DIMED), University Hospital of Padua, 35128 Padua, Italy.
Elisabetta ViscardiHematology Oncology Division, Department of Women's and Children's Health, University of Padova, 35128 Padua, Italy.
Anna CoppaDepartment of Experimental Medicine, University La Sapienza, 00161 Rome, Italy.ORCID 0000-0001-9758-5444
Vittoria DonofrioAnatomic Pathology Unit, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy.
Isabella GiovannoniPathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Felice GiangasperoDepartment of Radiological, Oncological and Anatomo-Pathological Sciences, University La Sapienza, 00161 Rome, Italy.ORCID 0000-0001-5382-2380
Manila AntonelliDepartment of Radiological, Oncological and Anatomo-Pathological Sciences, University La Sapienza, 00161 Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pediatric high-grade gliomas represent a heterogeneous group of tumors with a wide variety of molecular features. We performed whole exome sequencing and methylation profiling on matched primary and recurrent tumors from four pediatric patients with hemispheric high-grade gliomas. Genetic analysis showed the presence of some variants shared between primary and recurrent tumors, along with other variants exclusive of primary or recurrent tumors. NSD1 variants, all novel and not previously reported, were present at high frequency in our series (100%) and were all shared between the samples, independently of primary or recurrence. For every variant, in silico prediction tools estimated a high probability of altering protein function. The novel NSD1 variant (c.5924T > A; p.Leu1975His) was present in one in four cases at recurrence, and in two in four cases at primary. The novel NSD1 variant (c.5993T > A; p.Met1998Lys) was present in one in four cases both at primary and recurrence, and in one in four cases only at primary. The presence of NSD1 mutations only at recurrence may suggest that they can be sub-clonal, while the presence in both primary and recurrence implies that they can also represent early and stable events. Furthermore, their presence only in primary, but not in recurrent tumors, suggest that NSD1 mutations may also be influenced by treatment.

Indexed as

CNS tumorsgliomahemispheric pediatric high-grade gliomashigh grade glioma H3-/IDH-wildtypemethylation profilingmolecular biologyNSD1 genepediatric high-grade gliomastargeted therapyWES

Identifiers

PMID36611369
PMCPMC9818856

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.