Evidence map›Paper›PMID 35668302›Full record

ArticleBrain tumor pathology2022

A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.

Kaiyun Yang, Justin Wang, Nisha Kanwar, Anita Villani, Olufemi Ajani, Adam Fleming, Vikas Patil, Yasin Mamatjan, Qingxia Wei, David Malkin and 3 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Brain tumor pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Rare child primary intracranial sarcoma associated with DICER1 mutation: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
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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.

Kaiyun YangDepartment of Neurosurgery, University of Toronto, Toronto, ON, Canada. kaiyun.yang@medportal.ca.ORCID http://orcid.org/0000-0003-4020-9514
Justin WangDepartment of Neurosurgery, University of Toronto, Toronto, ON, Canada.
Nisha KanwarGenome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Anita VillaniDivision of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Olufemi AjaniDivision of Neurosurgery, Department of Surgery, McMaster University, Hamilton, ON, Canada.
Adam FlemingDivision of Hematology/Oncology, Department of Pediatrics, McMaster University, Hamilton, ON, Canada.
Vikas PatilPrincess Margaret Cancer Center, MacFeeters-Hamilton Center for Neuro-Oncology Research, University of Toronto, Toronto, ON, Canada.
Yasin MamatjanPrincess Margaret Cancer Center, MacFeeters-Hamilton Center for Neuro-Oncology Research, University of Toronto, Toronto, ON, Canada.
Qingxia WeiPrincess Margaret Cancer Center, MacFeeters-Hamilton Center for Neuro-Oncology Research, University of Toronto, Toronto, ON, Canada.
David MalkinDivision of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Adam ShlienDepartment of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, Toronto, ON, Canada.
Gelareh ZadehDepartment of Neurosurgery, University of Toronto, Toronto, ON, Canada.
John ProviasNeuropathology Section, Department of Pathology and Molecular Medicine/Neuropathology, Hamilton General Hospital, McMaster University, 237 Barton Street, Hamilton, ON, L8L 2X2, Canada. provijoh@hhsc.ca.
University of Toronto · CAHospital for Sick Children · CAMcMaster University · CAHamilton General Hospital · CAThompson Rivers University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A child had been followed since infancy by our multi-disciplinary neuro-oncology clinic with annual magnetic resonance imaging (MRI) under the presumed diagnosis of encephalocraniocutaneous lipomatosis (ECCL), with clinical features including nevus psiloliparus, scalp lipoma, nodular skin tag on and coloboma of the eyelid, cortical atrophy and meningeal angiomatosis. At the age of 4, she was found to have a large temporoparietal lesion causing elevated intracranial pressure requiring surgical resection. Histopathological exam of the tumor was suggestive of an intracranial sarcoma. Sequencing analysis of the tumor revealed mutations in DICER1, KRAS and TP53. Subsequent germline testing confirmed DICER1 syndrome and revealed an insignificant FGFR1 variant at a low frequency. Methylation profile of the tumor showed the tumor clustered most closely with sarcoma (rhabdomyosarcoma-like), confirming this tumor to be a primary DICER1-sarcoma. Compared to the previously reported cases, our unique case of primary DICER1-sarcoma also demonstrated neurofilament and chromogranin positivity, and genomic instability with loss of chromosome 4p, 4q, 8p, 11p, and 19p, as well as gains in chromosome 7p, 9p, 9q, 13q, and 15q on copy variant analysis. The detailed sequencing and methylation information discovered in this unique case of DICER1-sarcoma will hopefully help further our understanding of this rare and emerging entity.

Indexed as

Proto-Oncogene Proteins p21(ras)SarcomaChildChromograninsDEAD-box RNA HelicasesEye DiseasesFemaleHumansLipomatosisMutationNeurocutaneous SyndromesRibonuclease IIITumor Suppressor Protein p53ChromograninsDEAD-box RNA HelicasesDICER1 protein, humanKRAS protein, humanProto-Oncogene Proteins p21(ras)Ribonuclease IIITP53 protein, humanTumor Suppressor Protein p53DICER1-sarcomaDICER1 syndromeECCLKRAS

Identifiers

PMID35668302
OpenAlexW4281732335

What OpenQuestion holds

Textmetadata
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.