Evidence map›Paper›PMID 39934754›Full record

ReviewBMC pulmonary medicine2025

Clinical characteristics and genetic analysis of a patient with diffuse pulmonary lymphangiomatosis: a case report and literature review.

Yu-Xuan Feng, Tong-Sheng Wang, Shuai Zhang, Wen-Qing Xu, Min Liu, Yi-Min Mao, Ying Nong

Abstract readCase ReportsReview
In one paragraph

Review in BMC pulmonary medicine, 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. Article
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

7 authors.

Yu-Xuan FengDepartment of Respiratory and Critical Care Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Tong-Sheng WangDepartment of Respiratory and Critical Care Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Shuai ZhangNational Clinical Research Center for Respiratory Diseases, Department of Pulmonary and Critical Care Medicine, China-Japan Friendship Hospital, Beijing, 100029, China.
Wen-Qing XuDepartment of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China.
Min LiuDepartment of Radiology, China-Japan Friendship Hospital, Beijing, 100029, China.
Yi-Min MaoDepartment of Respiratory and Critical Care Medicine, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, China.
Ying NongNational Clinical Research Center for Respiratory Diseases, Department of Pulmonary and Critical Care Medicine, China-Japan Friendship Hospital, Beijing, 100029, China. 18511868470@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDiffuse pulmonary lymphangiomatosis (DPL) is a rare pulmonary disorder, which affects the lymphatic channels from the mediastinum to the pleura. DPL is often misdiagnosed or missed due to the lack of clear specificity and definitive medical therapies. In most cases, the disease progresses to chronic morbidity or even death. CASE PRESENTATION: Here, we have reported a case of DPL in a 17-year-old boy who presented with hemoptysis and progressive breathlessness. The diagnosis was confirmed based on the typical imaging features observed through high-resolution computed tomography, chest magnetic resonance imaging, and lymphangiography. Furthermore, we have presented the genetic characteristics of the patient and his parents and discovered the following heterozygous variants of BCL6: NM_001706: exon5: c. A463G (p.M155V) and ATM: NM_000051: exon3: c.A107G (p.D36G). The patient underwent treatment with sirolimus for 2 months; his clinical symptoms disappeared completely, and the mediastinum soft mass shrank dramatically.

conclusionsEarly diagnosis of DPL is challenging for clinicians, and imaging plays an important role in determining the location and severity of the disease. The gene mutation detected in this study may facilitate the pathogenesis of DPL. Sirolimus can prevent further disease progression in the short term, which may be an effective and safe therapeutic alternative for treating DPL.

Indexed as

Lung DiseasesLymphangiectasisAdolescentAtaxia Telangiectasia Mutated ProteinsDyspneaHemoptysisHumansMagnetic Resonance ImagingMaleMutationSirolimusTomography, X-Ray ComputedAtaxia Telangiectasia Mutated ProteinsATM protein, humanSirolimusDiffuse pulmonary lymphangiomatosisLymphangiographyMediastinum massSirolimus

Identifiers

PMID39934754
PMCPMC11817988

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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.