Evidence map›Paper›PMID 40884273›Full record

ArticlePediatric blood & cancer2025

Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF Variant.

Michael D Fox, Sumukh Kumar, Allison D Britt, Abhay S Srinivasan, Lea F Surrey, Seth E Vatsky, Alexandra J Borst, Hakon Hakonarson, Dong Li, Sarah E Sheppard and 2 more

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In one paragraph

Article in Pediatric blood & cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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

1 citing paper in PubMed.

  1. 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

12 authors.

Michael D FoxDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0003-1297-6935
Sumukh KumarComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0009-0001-2277-8222
Allison D BrittComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0001-6601-0453
Abhay S SrinivasanComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID https://orcid.org/0000-0002-0180-4719
Lea F SurreyComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Seth E VatskyComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Alexandra J BorstDivision of Pediatric Hematology-Oncology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Hakon HakonarsonComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Dong LiCenter of Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Sarah E SheppardComprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Kristen M SnyderDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Denise M AdamsDivision of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Funding

Cellular and Molecular Mechanisms of Vascular MalformationsZIAHD009003 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI SHEPPARD, SARAH · 2022 to 2025
$6.1M
Intramural NIH HHS ZIA HD009003Intramural Research Program of the National Institutes of Health (NIH)
6 · The paper itself

Abstract

backgroundThe somatic activating variant in BRAF (p.V600E) was recently described as a novel cause of macrocystic head and neck lymphatic malformations in three individuals. Other recent studies profiling the genetic causes of more complex lymphatic anomalies identified this same pathogenic BRAF variant. Our aim was to expand the phenotypic description of the somatic BRAF p.V600E variant in individuals with vascular anomalies. PROCEDURE: We searched the database of individuals with vascular anomalies at our institution for those identified as having complex lymphatic anomalies and somatic BRAF p.V600E variants. A comprehensive retrospective review of identified individuals' electronic health records was conducted.

resultsSix individuals with complex lymphatic anomalies had the BRAF p.V600E variant. All individuals had diffuse lymphatic malformations and abnormal lymphatic conduction. The conduction abnormalities were observed only after surgical interventions in five of the patients, in some cases, manifesting years later. There was immense phenotypic heterogeneity within the cohort.

conclusionsComplex lymphatic anomalies are an important new phenotype associated with the pathogenic BRAF p.V600E variant. Even in initially asymptomatic individuals within this patient population, longitudinal follow-up is necessary, and surgical intervention should be pursued with caution. Further investigation is needed to better understand the etiology of the conduction problems associated with this pathogenic variant to inform the multidisciplinary approach to treatment.

Indexed as

Lymphatic AbnormalitiesMutationProto-Oncogene Proteins B-rafAdolescentChildChild, PreschoolFemaleFollow-Up StudiesHumansInfantMalePhenotypePrognosisRetrospective StudiesBRAF protein, humanProto-Oncogene Proteins B-rafBRAFcentral conducting lymphatic anomalycomplex lymphatic anomalygeneralized lymphatic anomalykaposiform lymphatic anomaly

Identifiers

PMID40884273
PMCPMC12821086

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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.