Evidence map›Paper›PMID 38260858›Full record

ArticleFrontiers in oncology2023

Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.

Francesco Fabozzi, Rosalba Carrozzo, Mariachiara Lodi, Angela Di Giannatale, Selene Cipri, Chiara Rosignoli, Isabella Giovannoni, Alessandra Stracuzzi, Teresa Rizza, Claudio Montante and 7 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.5field-weighted citation impact, top 19% of its field
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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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

17 authors at 2 institutions in 1 country.

Francesco FabozziHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Rosalba CarrozzoUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Mariachiara LodiHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Angela Di GiannataleHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Selene CipriHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Chiara RosignoliHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Isabella GiovannoniPathology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Alessandra StracuzziPathology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Teresa RizzaUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Claudio MontanteHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Emanuele AgoliniLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Michela Di NottiaUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Neuromuscular Disorders Research Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Federica GalavernaHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Giada Del BaldoHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Francesco Del BufaloHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Angela MastronuzziHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Maria Antonietta De IorisHematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Bambino Gesù Children's Hospital · ITIstituti di Ricovero e Cura a Carattere Scientifico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The increased availability of genetic technologies has significantly improved the detection of novel germline variants conferring a predisposition to tumor development in patients with malignant disease. The identification of variants of uncertain significance (VUS) represents a challenge for the clinician, leading to difficulties in decision-making regarding medical management, the surveillance program, and genetic counseling. Moreover, it can generate confusion and anxiety for patients and their family members. Herein, we report a 5-year-old girl carrying a VUS in the Succinate Dehydrogenase Complex Subunit C (

Indexed as

acute myeloid leukemiacancer predisposition syndromeneuroblastomasuccinate dehydrogenase complex subunit C (SHDC) genevariants of uncertain significance (VUS)

Identifiers

PMID38260858
PMCPMC10800918
OpenAlexW4390665235

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.