Evidence map›Paper›PMID 26380221›Full record

ArticleFrontiers in oncology2015

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia.

Jingying Xu, Ashley Sloane Margol, Anju Shukla, Xiuhai Ren, Jonathan L Finlay, Mark D Krieger, Floyd H Gilles, Fergus J Couch, Meraj Aziz, Eric T Fung and 3 more

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

Article in Frontiers in oncology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

14 citing papers in PubMed, 29 citations in OpenAlex.

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  13. Preclinical Models of Pediatric Brain Tumors-Forging Ahead.Bioengineering (Basel, Switzerland) · 2018
    Review
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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

13 authors at 5 institutions in 1 country.

Jingying XuDivision of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA.
Ashley Sloane MargolDivision of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA ; Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.
Anju ShuklaAffymetrix , Santa Clara, CA , USA.
Xiuhai RenDivision of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA.
Jonathan L FinlayDivision of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA ; Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.
Mark D KriegerDivision of Neurosurgery, Children's Hospital Los Angeles , Los Angeles, CA , USA ; Department of Neurological Surgery, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.
Floyd H GillesDepartment of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic , Rochester, MN , USA.
Meraj AzizTranslational Genomics Research Institute (TGen) , Phoenix, AZ , USA.
Eric T FungAffymetrix , Santa Clara, CA , USA.
Shahab AsgharzadehDivision of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA ; Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA ; Department of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.
Michael T BarrettTranslational Genomics Research Institute (TGen) , Phoenix, AZ , USA.
Anat Erdreich-EpsteinDivision of Hematology-Oncology, Department of Pediatrics, Children's Hospital Los Angeles , Los Angeles, CA , USA ; Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA , USA ; Department of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California , Los Angeles, CA , USA.
Children's Hospital of Los Angeles · USTranslational Genomics Research Institute · USMayo Clinic in Arizona · USNeurological Surgery · USUniversity of Southern California · US

Funding

The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
Training Physician Scientists in Pediatric OncologyT32CA009659 · NCI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI DECLERCK, YVES A · 1991 to 2020
$2.2M
NCI NIH HHS P50 CA116201NCI NIH HHS T32 CA009659
6 · The paper itself

Abstract

Medulloblastoma, the most common malignant brain tumor in children, occurs with increased frequency in individuals with Fanconi anemia who have biallelic germline mutations in BRCA2. We describe an 8-year-old child who had disseminated anaplastic medulloblastoma and a deleterious heterozygous BRCA2 6174delT germline mutation. Molecular profiling was consistent with Group 4 medulloblastoma. The posterior fossa mass was resected and the patient received intensive chemotherapy and craniospinal irradiation. Despite this, the patient succumbed to a second recurrence of his medulloblastoma, which presented 8 months after diagnosis as malignant pleural and peritoneal effusions. Continuous medulloblastoma cell lines were isolated from the original tumor (CHLA-01-MED) and the malignant pleural effusion (CHLA-01R-MED). Here, we provide their analyses, including in vitro and in vivo growth, drug sensitivity, comparative genomic hybridization, and next generation sequencing analysis. In addition to the BRCA2 6174delT, the medulloblastoma cells had amplification of MYC, deletion at Xp11.2, and isochromosome 17, but no structural variations or overexpression of GFI1 or GFI1B. To our knowledge, this is the first pair of diagnosis/recurrence medulloblastoma cell lines, the only medulloblastoma cell lines with BRCA2 6174delT described to date, and the first reported case of a child with medulloblastoma associated with a germline BRCA2 6174delT who did not also have Fanconi anemia.

Indexed as

BRCA2 6174delTFanconi anemiagroup 4 medulloblastomamedulloblastoma cell linesMYC

Identifiers

PMID26380221
PMCPMC4550790
OpenAlexW1539298413

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.