Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Gabriëla G Edel; Janna A Hol; Evelien Slot; Jan H von der Thüsen; Yolande van Bever; Rogier C J de Jonge; Marianne van Tienhoven; Hennie T Bruggenwirth; Annelies de Klein; Robbert J Rottier

doi:10.1016/j.labinv.2023.100233

Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

Gabriëla G Edel, Janna A Hol, Evelien Slot, Jan H von der Thüsen, Yolande van Bever, Rogier C J de Jonge, Marianne van Tienhoven, Hennie T Bruggenwirth, Annelies de Klein, Robbert J Rottier^*

^*Corresponding author for this work

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Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.

Original language	English
Article number	100233
Pages (from-to)	100233
Number of pages	1
Journal	Laboratory Investigation
Volume	103
Issue number	11
Early online date	9 Aug 2023
DOIs	https://doi.org/10.1016/j.labinv.2023.100233
Publication status	Published - 1 Nov 2023

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© 2023 The Authors

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10.1016/j.labinv.2023.100233

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary VeinsFinal published version, 306 KBLicence: CC BY

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Edel, G. G., Hol, J. A., Slot, E., von der Thüsen, J. H., van Bever, Y., de Jonge, R. C. J., van Tienhoven, M., Bruggenwirth, H. T., de Klein, A., & Rottier, R. J. (2023). Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins. Laboratory Investigation, 103(11), 100233. Article 100233. https://doi.org/10.1016/j.labinv.2023.100233

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title = "Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins",

abstract = "Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.",

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doi = "10.1016/j.labinv.2023.100233",

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Edel, GG , Hol, JA, Slot, E, von der Thüsen, JH , van Bever, Y , de Jonge, RCJ, van Tienhoven, M, Bruggenwirth, HT , de Klein, A & Rottier, RJ 2023, 'Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins', Laboratory Investigation, vol. 103, no. 11, 100233, pp. 100233. https://doi.org/10.1016/j.labinv.2023.100233

TY - JOUR

T1 - Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

AU - Edel, Gabriëla G

AU - Hol, Janna A

AU - Slot, Evelien

AU - von der Thüsen, Jan H

AU - van Bever, Yolande

AU - de Jonge, Rogier C J

AU - van Tienhoven, Marianne

AU - Bruggenwirth, Hennie T

AU - de Klein, Annelies

AU - Rottier, Robbert J

PY - 2023/11/1

Y1 - 2023/11/1

N2 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.

AB - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal congenital lung disorder that presents shortly after birth with respiratory failure and therapy-resistant pulmonary hypertension. It is associated with heterozygous point mutations and genomic deletions that involve the FOXF1 gene or its upstream regulatory region. Patients are unresponsive to the intensive treatment regimens and suffer unnecessarily because ACDMPV is not always timely recognized and histologic diagnosis is invasive and time consuming. Here, we demonstrate the usefulness of a noninvasive, fast genetic test for FOXF1 variants that we previously developed to rapidly diagnose ACDMPV and reduce the time of hospitalization.

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U2 - 10.1016/j.labinv.2023.100233

DO - 10.1016/j.labinv.2023.100233

M3 - Article

C2 - 37567389

SN - 0023-6837

VL - 103

SP - 100233

JO - Laboratory Investigation

JF - Laboratory Investigation

IS - 11

M1 - 100233

ER -

Clinical relevance of rapid FOXF1-targeted sequencing in patients suspected of alveolar capillary dysplasia with misalignment of pulmonary veins

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