Evidence map›Paper›PMID 39985924›Full record

ArticleCancer genetics2025

Anaplastic meningioma in a 6-year-old with somatic YAP1::MAML2 fusion and multiple endocrine neoplasia type 4 (MEN4) syndrome.

Lauren R Desrosiers-Battu, John H Lee, Izabela Tarasiewicz, Andrea R Gilbert, Eva M Galvan, Achint K Singh, Angshumoy Roy, George Miles, Jacquelyn Reuther, Donna M Muzny and 10 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. WHO grade 3 pediatric meningioma: a systematic review of clinical features and patient-level analysis of prognostic factors.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. Article
  3. 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

20 authors.

Lauren R Desrosiers-BattuBaylor College of Medicine, Pediatrics - One Baylor Plaza, Houston, Texas, 77030, USA. Electronic address: lrdesros@texaschildrens.org.
John H LeeUniversity of Texas Health Science Center at San Antonio, Long School of Medicine - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Izabela TarasiewiczUniversity of Texas Health Science Center at San Antonio, Neurosurgery - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Andrea R GilbertUniversity of Texas Health Science Center at San Antonio, Pathology - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Eva M GalvanUniversity of Texas Health Science Center at San Antonio, Radiation Oncology - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Achint K SinghUniversity of Texas Health Science Center at San Antonio, Radiology - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Angshumoy RoyBaylor College of Medicine, Pathology & Immunology - One Baylor Plaza, Houston, Texas, 77030, USA.
George MilesBaylor College of Medicine, Pathology & Immunology - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor College of Medicine, Molecular and Human Genetics - One Baylor Plaza, Houston, Texas, 77030, USA.
Jacquelyn ReutherBaylor College of Medicine, Pathology & Immunology - One Baylor Plaza, Houston, Texas, 77030, USA.
Donna M MuznyBaylor College of Medicine, Human Genome Sequencing Center - One Baylor Plaza, Houston, Texas, 77030, USA.
Bo YuanBaylor College of Medicine, Molecular and Human Genetics - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor College of Medicine, Human Genome Sequencing Center - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor Genetics - 2450 Holcombe Blvd, Houston, Texas, 77021-2024, USA.
Shashikant KulkarniBaylor College of Medicine, Molecular and Human Genetics - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor Genetics - 2450 Holcombe Blvd, Houston, Texas, 77021-2024, USA.
Christine EngBaylor College of Medicine, Molecular and Human Genetics - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor Genetics - 2450 Holcombe Blvd, Houston, Texas, 77021-2024, USA.
Sarah ScollonBaylor College of Medicine, Pediatrics - One Baylor Plaza, Houston, Texas, 77030, USA.
Shawn GessayUniversity of Texas Health Science Center at San Antonio, Pediatric Hematology-Oncology - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Amy L McGuireBaylor College of Medicine, Center for Medical Ethics and Health Policy - One Baylor Plaza, Houston, Texas, 77030, USA.
D Williams ParsonsBaylor College of Medicine, Pediatrics - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor College of Medicine, Molecular and Human Genetics - One Baylor Plaza, Houston, Texas, 77030, USA.
Gail E TomlinsonUniversity of Texas Health Science Center at San Antonio, Pediatric Hematology-Oncology - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.
Sharon E PlonBaylor College of Medicine, Pediatrics - One Baylor Plaza, Houston, Texas, 77030, USA; Baylor College of Medicine, Molecular and Human Genetics - One Baylor Plaza, Houston, Texas, 77030, USA.
Shafqat ShahUniversity of Texas Health Science Center at San Antonio, Pediatric Hematology-Oncology - 7703 Floyd Curl Drive, San Antonio, Texas, 78229, USA.

Funding

Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and ValidationU01HG006485 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI MCGUIRE, AMY L, PARSONS, DONALD W. · 2012 to 2021
$22.1M
NHGRI NIH HHS U01 HG006485
6 · The paper itself

Abstract

Meningiomas are the most common primary brain tumors in adults but much less frequent in children. Many subtypes exist, including anaplastic (malignant) meningioma, which accounts for less than 20% of pediatric tumors. Meningiomas can arise in association with cancer predisposition syndromes due to germline variants in genes such as NF2, MEN1 and SMARCE1. This report describes a 6-year-old boy diagnosed with anaplastic meningioma who was treated with surgery and focal radiation therapy. The family consented to participate in the Texas KidsCanSeq clinical genomics study. Analysis of germline and tumor samples detected a single germline finding of a CDKN1B pathogenic frameshift variant associated with Multiple Endocrine Neoplasia Type 4 (MEN4) without somatic loss of the other allele. Tumor analysis revealed a YAP1::MAML2 fusion, which has been previously reported in pediatric meningiomas not associated with NF2. YAP1::MAML2 fusion is a known driver for development of meningioma, but the role of the germline CDKN1B variant in the absence of a tumor second hit is unclear. This case highlights the importance of performing combined tumor and germline molecular genetic analysis of rare tumors to help clarify the risk of development of cancer in patients with rare cancer predisposition syndromes.

Indexed as

Adaptor Proteins, Signal TransducingMeningeal NeoplasmsMeningiomaMultiple Endocrine NeoplasiaOncogene Proteins, FusionTrans-ActivatorsTranscription FactorsChildGerm-Line MutationHumansMaleYAP-Signaling ProteinsAdaptor Proteins, Signal TransducingMAML2 protein, humanOncogene Proteins, FusionTrans-ActivatorsTranscription FactorsYAP1 protein, humanYAP-Signaling ProteinsAnaplastic meningiomaGermline CDKN1BMEN4Multiple endocrine neoplasia type 4YAP1::MAML2 fusion

Identifiers

PMID39985924
PMCPMC13626426

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.