Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial

Keppler‐Noreuil, Kim M.; Burton-Akright, Jasmine; Kleiner, David E.; Sapp, Julie C.; Lindhurst, Marjorie J.; Han, Chen; Biesecker, Leslie G.; Gochuico, Bernadette R.

doi:10.1513/annalsats.202111-1214oc

Cited by 2 publications

(4 citation statements)

References 34 publications

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“…The CT imaging studies were sourced from the film library of the National Institutes of Health Clinical Center (NIHCC) and from multiple other institutions. Some of the radiographs and data in this study overlap with recent publications from the Natural History of Proteus Syndrome study [ 6 , 13 ].…”

Section: Methodssupporting

confidence: 59%

“…Radiographically, the lungs can have areas of hyperlucency, emphysematous changes, ground glass opacity, and diffuse enlarging cysts. This diverse set of findings and the presence of extrapulmonary manifestations of Proteus syndrome can distinguish it from other primary diffuse cystic lung diseases [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…1 ). A systematic literature review suggests that the prevalence of bullous lung disease in Proteus syndrome is 9.3% although more recent data suggests a prevalence of approximately 36% [ 6 , 24 ]. Resection of affected lung segments has been therapeutic for symptomatic individuals with regionally limited disease [ 8 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

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Quantification of Proteus syndrome-associated lung disease

Ours,

Buser,

Hodges

et al. 2024

Orphanet J Rare Dis

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Background Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and require surgical intervention. This retrospective study seeks to quantify the radiographic features of Proteus syndrome-associated lung disease using computed tomography (CT) of the chest. The first method derives a Cystic Lung Score (CLS) by using a computer-aided diagnostic tool to quantify the fraction of cystic involvement of the lung. The second method yields a Clinician Visual Score (CVS), an observer reported scale of severity based on multiple radiographic features. The aim of this study was to determine if these measurements are associated with clinical symptoms, pulmonary function test (PFT) measurements, and if they may be used to assess progression of pulmonary disease. Results One hundred and thirteen imaging studies from 44 individuals with Proteus syndrome were included. Dyspnea and oxygen use were each associated with higher CLS (p = 0.001 and < 0.001, respectively) and higher CVS (p < 0.001 and < 0.001). Decreases in percent predicted FVC, FEV1, and DLCO each correlated with increased CLS and CVS. The annual increase of CLS in children, 5.6, was significantly greater than in adults, 1.6. (p = 0.03). The annual increase in CVS in children, 0.4, was similar to adults, 0.2 (p = 0.36). Conclusions Proteus syndrome-associated lung disease is progressive. The rate of cystic progression is increased in children. Increased scores in CLS and CVS were associated with clinical symptoms and decreased pulmonary function. Both methods were able to detect change over time and were associated with clinically meaningful outcomes which may enable their use in interventional studies.

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Section: Methodssupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Quantification of Proteus syndrome-associated lung disease

Ours,

Buser,

Hodges

et al. 2024

Orphanet J Rare Dis

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“…Such lymphatic dysfunctions might be present in our patient and at least partly explain her pulmonary presentation. In addition, Proteus syndrome, another rare overgrowth disorder caused by a somatic activating mutation of AKT1 , involved in the PI3K–AKT–mTOR pathways [ 9 ], is classically associated with bullous or cystic pulmonary lesions. The genetic origin of these two syndromes being quite comparable, we hypothesise that their resulting pulmonary manifestations might also be comparable.…”

mentioning

confidence: 99%