Serum vascular endothelial growth factor-D as a diagnostic and therapeutic biomarker for lymphangioleiomyomatosis

PloS One
Masaki HiroseYoshikazu Inoue

Abstract

In lymphangioleiomyomatosis (LAM), tuberous sclerosis gene mutations activate the mechanistic target of the rapamycin pathway, resulting in vascular endothelial growth factor-D (VEGF-D) overproduction. While the utility of serum VEGF-D testing for the diagnosis of LAM is outlined in ATS/JRS LAM Guidelines, the assay has not been fully validated for Asian populations. Our aims were to validate serum VEGF-D testing in Japan, by directly comparing measurements in Japan and the U.S., determining the diagnostic cut-off for serum VEGF-D levels among the Japanese women with typical thin walled cystic change on CT, and determining the performance of VEGF-D as a prognostic biomarker. We determined serum VEGF-D levels from 108 LAM patients, 14 disease controls, and 51 healthy volunteers from the Japanese population. Measurements of 61 LAM patients were compared to those from the principal VEGF-D laboratory in the U.S at Cincinnati Children's Hospital Medical Center. We correlated baseline serum VEGF-D levels with baseline and longitudinal clinical data to determine how pregnancy, sirolimus or gonadotrophin-releasing hormone (GnRH) agonists influence serum VEGF-D levels. Serum VEGF-D measurements in Japan and the U.S. were very similar. B...Continue Reading

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Citations

Dec 12, 2020·Breathe·Anne M O'MahonyCormac McCarthy
Mar 7, 2021·International Journal of Molecular Sciences·Jilly Frances EvansVera P Krymskaya
Mar 19, 2021·Orphanet Journal of Rare Diseases·Lisha ShenKai-Feng Xu
Aug 31, 2021·The Lancet. Respiratory Medicine·Cormac McCarthyFrancis X McCormack

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