Evidence map›Paper›PMID 25940061›Full record

ArticlePediatric blood & cancer2015

Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.

Sridharan Gururangan, Giles Robinson, David W Ellison, Gang Wu, Xuelian He, Q Richard Lu, Roger McLendon, Gerald Grant, Timothy Driscoll, Ronnie Neuberg

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

Article in Pediatric blood & cancer, 2015. 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
0.8field-weighted citation impact, top 29% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Oncology letters · 2022
    Article
  2. Review
  3. Article
  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

10 authors at 7 institutions in 1 country.

Sridharan GururanganPreston Robert Tisch Brain Tumor Center, Duke University Medical Center, Durham, North Carolina.
Giles RobinsonDepartment of Pediatrics, St. Jude Children's Research Hospital, Memphis, Tennessee.
David W EllisonDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Gang WuDepartment of Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee.
Xuelian HeDepartment of Pediatrics, Cincinnati Children's Medical Center, Cincinnati, Ohio.
Q Richard LuDepartment of Pediatrics, Cincinnati Children's Medical Center, Cincinnati, Ohio.
Roger McLendonDepartment of Pathology, Duke University Medical Center, Durham, North Carolina.
Gerald GrantDepartment of Neurosurgery, Stanford University Medical Center, Stanford, California.
Timothy DriscollDepartment of Bone Marrow Transplant, Duke University Medical Center, Durham, North Carolina.
Ronnie NeubergDepartment of Pediatrics, Palmetto Regional Hospital, Charleston, South Carolina.
St. Jude Children's Research Hospital · USDuke University Hospital · USChildren's Medical Center · USCincinnati Children's Hospital Medical Center · USDuke Medical Center · USPalmetto General Hospital · USStanford Medicine · US

Funding

Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
Molecular Mechanisms of Oligodendrocyte Differentiation and MyelinationR01NS072427 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI LU, QING R · 2010 to 2018
$3.6M
Chromatin remodeling control of myelination and remyelinationR01NS075243 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI LU, QING R · 2012 to 2018
$2.6M
A Novel Model of Medulloblastoma to Define Cancer Pathways and Molecular TargetsR01NS078092 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI LU, QING R · 2012 to 2016
$1.7M
NCI NIH HHS P30 CA021765NINDS NIH HHS R01 NS072427NINDS NIH HHS R01 NS075243NINDS NIH HHS R01 NS078092
6 · The paper itself

Abstract

We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/ or PTCH1 loss in 2 patients. Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non-coding 3' -untranslated region (UTR) with corresponding decreased protein expression. While one patient died despite high-dose chemotherapy (HDC) plus stem cell rescue (ASCR) and palliative radiotherapy, two patients are currently alive for 18+ and 120+ months respectively following retrieval therapy that did not include irradiation. Infants with DMB and GS should be treated aggressively with chemotherapy at diagnosis to prevent relapse but radiotherapy should be avoided. The use of molecular prognostic markers for DMB should be routinely used to identify the subset of tumors that might have an aggressive course.

Indexed as

Antineoplastic Combined Chemotherapy ProtocolsBasal Cell Nevus SyndromeCerebellar NeoplasmsChild, PreschoolChromograninsCombined Modality TherapyFemaleGTP-Binding Protein alpha Subunits, GsHumansImmunotherapyIn Situ Hybridization, FluorescenceMaleMedulloblastomaMutationNeoplasm Recurrence, LocalNeurosurgical ProceduresChromograninsGNAS protein, humanGTP-Binding Protein alpha Subunits, GsPatched-1 ReceptorPatched ReceptorsPTCH1 protein, humanPTEN PhosphohydrolasePTEN protein, humanReceptors, Cell Surfaceclinical featuresGorlin syndromemedulloblastomamutationPTCHwhole genome sequencing

Identifiers

PMID25940061
PMCPMC4765346
OpenAlexW1696812633

What OpenQuestion holds

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LicenceTDM
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.