Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.
Cystic Fibrosis
Journal
Thorax
ISSN: 1468-3296
Titre abrégé: Thorax
Pays: England
ID NLM: 0417353
Informations de publication
Date de publication:
14 Jul 2024
14 Jul 2024
Historique:
received:
19
09
2023
accepted:
14
04
2024
medline:
15
7
2024
pubmed:
15
7
2024
entrez:
14
7
2024
Statut:
aheadofprint
Résumé
Diagnosing cystic fibrosis (CF) is not always straightforward, in particular when sweat chloride concentration (SCC) is intermediate and <2 CF-causing Organoid morphology was analysed using the previously established ROMA protocol. Two indices were calculated: the circularity index to quantify the roundness of organoids and the intensity ratio as a measure of the presence of a central lumen. Rectal organoids from 116 subjects were cultured and analysed together with the 189 subjects from the previous study. ROMA almost completely discriminated between CF and non-CF. ROMA indices correlated with SCC, pancreatic status and genetics, demonstrating convergent validity. For cases with an inconclusive diagnosis according to current guidelines, ROMA provided additional diagnostic information, with a diagnostic ROMA classification for 18 of 24 (75%). ROMA provides additional information to support a CF diagnosis when SCC and genetics are insufficient for diagnostic classification. ROMA is standardised and can be centralised, allowing future inclusion in the diagnostic work-up as first-choice physiological assay in case of an unclear diagnosis.
Sections du résumé
BACKGROUND
BACKGROUND
Diagnosing cystic fibrosis (CF) is not always straightforward, in particular when sweat chloride concentration (SCC) is intermediate and <2 CF-causing
METHODS
METHODS
Organoid morphology was analysed using the previously established ROMA protocol. Two indices were calculated: the circularity index to quantify the roundness of organoids and the intensity ratio as a measure of the presence of a central lumen.
RESULTS
RESULTS
Rectal organoids from 116 subjects were cultured and analysed together with the 189 subjects from the previous study. ROMA almost completely discriminated between CF and non-CF. ROMA indices correlated with SCC, pancreatic status and genetics, demonstrating convergent validity. For cases with an inconclusive diagnosis according to current guidelines, ROMA provided additional diagnostic information, with a diagnostic ROMA classification for 18 of 24 (75%).
DISCUSSION
CONCLUSIONS
ROMA provides additional information to support a CF diagnosis when SCC and genetics are insufficient for diagnostic classification. ROMA is standardised and can be centralised, allowing future inclusion in the diagnostic work-up as first-choice physiological assay in case of an unclear diagnosis.
Identifiants
pubmed: 39004507
pii: thorax-2023-220964
doi: 10.1136/thorax-2023-220964
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Investigateurs
Hedwige Boboli
(H)
Linda Boulanger
(L)
Georges Casimir
(G)
Benedicte Demeyere
(B)
Elke De Wachter
(E)
Danny De Looze
(D)
Anja Delporte
(A)
Isabelle Etienne
(I)
Laurence Hanssens
(L)
Christiane Knoop
(C)
Monique Lequesne
(M)
Vicky Nowé
(V)
Ann Raman
(A)
Dirk Staessen
(D)
Stephanie Van Biervliet
(SV)
Eva Van Braeckel
(EV)
Kim Van Hoorenbeeck
(KV)
Eef Vanderhelst
(E)
Stijn Verhulst
(S)
Stefanie Vincken
(S)
Informations de copyright
© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.