Evidence map›Paper›PMID 41563201›Full record

ArticleJACC. Case reports2026

Somatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH.

Katharina Schimmel, Tucker Hallmark, Evon DeBose-Scarlett, Yue Qi, Serena Tan, Domenico Mastrodicasa, Rachel K Hopper, Joseph Wu, Douglas Marchuk, Edda Spiekerkoetter

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

Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Katharina SchimmelDepartment of Child Health, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA; Phoenix Children's Research Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA. Electronic address: schimmelk@arizona.edu.
Tucker HallmarkDepartment of Child Health, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA; Phoenix Children's Research Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Evon DeBose-ScarlettDuke University School of Medicine, Durham, North Carolina, USA.
Yue QiPhoenix Children's Research Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Serena TanStanford University School of Medicine, Stanford Cardiovascular Institute, Vera Moulton Wall Center for Pulmonary Vascular Disease, Palo Alto, California, USA.
Domenico MastrodicasaUniversity of Washington School of Medicine, Seattle, Washington, USA.
Rachel K HopperDivision of Cardiology, Department of Pediatrics, Lucile Packard Children's Hospital Stanford, Palo Alto, California, USA.
Joseph WuStanford University School of Medicine, Stanford Cardiovascular Institute, Vera Moulton Wall Center for Pulmonary Vascular Disease, Palo Alto, California, USA.
Douglas MarchukDuke University School of Medicine, Durham, North Carolina, USA.
Edda SpiekerkoetterStanford University School of Medicine, Stanford Cardiovascular Institute, Vera Moulton Wall Center for Pulmonary Vascular Disease, Palo Alto, California, USA.

Funding

Understanding and targeting molecular and cellular events responsible for pulmonary arteriovenous malformation development, growth and regressionR01HL169787 · NHLBI · STANFORD UNIVERSITY · PI Edda Frauke Spiekerkoetter · 2023 to 2026
$2.8M
NHLBI NIH HHS R01 HL169787
6 · The paper itself

Abstract

backgroundHereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH) are rare vascular diseases whose pathobiology is poorly understood. HHT is characterized by arteriovenous malformations, whereas PAH by an occlusive pulmonary vasculopathy that includes plexiform lesions. CASE SUMMARY: A female patient with PAH and HHT developed right heart failure with severe hypoxemia despite years of medical treatment for PAH, necessitating a heart-lung transplantation. DISCUSSION: Histological and molecular analysis of the lung explant revealed that, in addition to the inherited HHT-causing variant in the endoglin gene, a plexiform lesion harbored an oncogenic, somatic phosphoinositide-3-kinase, PIK3CA activating mutation, which in this case may have driven endothelial cell proliferation. TAKE-HOME MESSAGES: This novel discovery sheds light on the molecular basis of plexiform lesion development in this rare case of combined PAH and HHT, highlighting a potential role of somatic mutations in driving endothelial cell proliferation in plexiform lesions.

Indexed as

geneticspulmonary circulationpulmonary hypertensionvascular disease

Identifiers

PMID41563201
PMCPMC13100541

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