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Molecular Diagnosis of Eosinophilic Esophagitis by Gene Expression Profiling

Open access
Wen, Ting, Stucke, Emily M., Grotjan, Tommie M., Kemme, Katherine A., Abonia, J. Pablo, Putnam, Philip E., Franciosi, James P., Garza, Jose M., Kaul, Ajay, King, Eileen C., Collins, Margaret H., Kushner, Jonathan P., Rothenberg, Marc E.·2013·Gastroenterology

Abstract

Background & Aims Gene expression profiling provides an opportunity for definitive diagnosis but has not yet been well applied to inflammatory diseases. Herein, we describe an approach for diagnosis of an emerging form of esophagitis, eosinophilic esophagitis (EoE), currently diagnosed by histology and clinical symptoms. Methods We developed an EoE diagnostic panel (EDP), comprising a 96-gene quantitative PCR array and an associated dual-algorithm that uses cluster analysis and dimensionality reduction, using a cohort of randomly selected esophageal biopsy samples from pediatric patients with EoE (n = 15) or without EoE (non-EoE controls, n = 14), subsequently vetted using a separate cohort of 194 pediatric and adult patient samples derived from both fresh or formalin-fixed paraffin embedded (FFPE) tissue: active EoE (n = 91), control (non-EoE and EoE remission, n = 57), histologically ambiguous (n = 34), and reflux (n = 12) samples. Results The EDP identified adult and pediatric patients with EoE with ~96% sensitivity and ~98% specificity, and distinguished patients with EoE in remission from controls, as well as identified patients exposed to swallowed glucorticoids. The EDP could be used with FFPE tissue RNA and distinguished patients with EoE from those with reflux esophagitis, identified by pH-impedance testing. Preliminary evidence showed that the EDP could identify patients likely to have disease relapse following treatment. Conclusions We developed a molecular diagnostic test (referred as the EDP) that identifies patients with esophagitis in a fast, objective, and mechanistic manner, offering an opportunity to improve diagnosis and treatment, and a platform approach for other inflammatory diseases.

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Metadata

Authors
Wen, T., Stucke, E. M., Grotjan, T. M., Kemme, K. A., Abonia, J. P., Putnam, P. E., Franciosi, J. P., Garza, J. M., Kaul, A., King, E. C., Collins, M. H., Kushner, J. P., & Rothenberg, M. E.
Venue
Gastroenterology
Publisher
Elsevier BV
Published
2013-12
Volume
145
Issue
6
Pages
1289-1299
ISSN
0016-5085 (ISSN-L)
OpenAlex
W2152560420
Cited by
256
References
17
FWCI
23.95
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: Molecular Diagnosis of Eosinophilic Esophagitis by Gene Expression Profiling. https://app.cochat.ai/papers/10.1053/j.gastro.2013.08.046
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Wen, T., Stucke, E. M., Grotjan, T. M., Kemme, K. A., Abonia, J. P., Putnam, P. E., Franciosi, J. P., Garza, J. M., Kaul, A., King, E. C., Collins, M. H., Kushner, J. P., & Rothenberg, M. E. (2013). Molecular Diagnosis of Eosinophilic Esophagitis by Gene Expression Profiling. Gastroenterology. https://doi.org/10.1053/j.gastro.2013.08.046

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