Histogenetic Classification Predicts Outcomes in 130 Adults With Chronic Intestinal Pseudo-Obstruction
Abstract
INTRODUCTION: Chronic intestinal pseudo-obstruction (CIPO) is a rare, heterogeneous disorder associated with severe morbidity. Genetic variants and histopathological lesions have been described, but their combined evaluation has rarely been assessed in adult CIPO cohorts. This study aimed to evaluate the contribution of integrated genetic and histological analyses in adults with CIPO. METHODS: We conducted a retrospective observational study of adults with CIPO followed at a national tertiary referral center. Patients with CIPO underwent genomic profiling, including next-generation sequencing (NGS) panel, long-range polymerase chain reaction (PCR), whole-exome, and whole-genome sequencing. Centralized histological analysis of full-thickness bowel biopsies and resections was integrated with genomic data to assess their combined impact on disease outcomes. RESULTS: The cohort included 130 patients (75 females, 55 males, aged 19-74 years), followed for up to 64 years. Genetic and histological analyses characterized 82% of the patients (genetic diagnosis: n = 65/112, 58%; histological diagnosis: n = 73/96, 76%), allowing the classification of patients into 6 groups: monogenic myopathy (n = 42), mitochondriopathy (n = 19), unspecified myopathy (n = 26), autoimmune myopathy (n = 8), neuropathy (n = 9), and others (n = 26). Survival and postoperative outcomes differed across groups. In this cohort, patients with monogenic myopathy had the most favorable long-term survival (adjusted hazard ratio: 0.06, 95% CI: 0.01-0.42; P = 0.004) and higher rates of improvement after bowel resection compared with other patients. DISCUSSION: Integrated genetic and histological evaluation informed etiological classification in adults with CIPO and may aid clinical decision-making.
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BibTeX
@article{ta2026histogenetic,
title = {{Histogenetic Classification Predicts Outcomes in 130 Adults With Chronic Intestinal Pseudo-Obstruction}},
author = {Minh-Chau Ta and Dominique Cazals-Hatem and Lore Billiauws and Aurélien Amiot and Marc Bellaiche and Dominique Berrebi and Benoit Coffin and Olivier Corcos and Emmanuelle Ecochard-Dugelay and Olivier Goulet and Florence Lacaille and Cécile Lambe and Yann Nadjar and John Rendu and Cécile Talbotec and Fabienne Charbit-Henrion and Francisca Joly},
journal = {The American Journal of Gastroenterology},
year = {2026},
month = oct,
doi = {10.14309/ajg.0000000000003980},
url = {https://hal.science/hal-05788812v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Histogenetic Classification Predicts Outcomes in 130 Adults With Chronic Intestinal Pseudo-Obstruction
AU - Minh-Chau Ta
AU - Dominique Cazals-Hatem
AU - Lore Billiauws
AU - Aurélien Amiot
AU - Marc Bellaiche
AU - Dominique Berrebi
AU - Benoit Coffin
AU - Olivier Corcos
AU - Emmanuelle Ecochard-Dugelay
AU - Olivier Goulet
AU - Florence Lacaille
AU - Cécile Lambe
AU - Yann Nadjar
AU - John Rendu
AU - Cécile Talbotec
AU - Fabienne Charbit-Henrion
AU - Francisca Joly
PY - 2026
DA - 2026/10/02
JO - The American Journal of Gastroenterology
DO - 10.14309/ajg.0000000000003980
UR - https://hal.science/hal-05788812v1
AB - INTRODUCTION: Chronic intestinal pseudo-obstruction (CIPO) is a rare, heterogeneous disorder associated with severe morbidity. Genetic variants and histopathological lesions have been described, but their combined evaluation has rarely been assessed in adult CIPO cohorts. This study aimed to evaluate the contribution of integrated genetic and histological analyses in adults with CIPO. METHODS: We conducted a retrospective observational study of adults with CIPO followed at a national tertiary referral center. Patients with CIPO underwent genomic profiling, including next-generation sequencing (NGS) panel, long-range polymerase chain reaction (PCR), whole-exome, and whole-genome sequencing. Centralized histological analysis of full-thickness bowel biopsies and resections was integrated with genomic data to assess their combined impact on disease outcomes. RESULTS: The cohort included 130 patients (75 females, 55 males, aged 19-74 years), followed for up to 64 years. Genetic and histological analyses characterized 82% of the patients (genetic diagnosis: n = 65/112, 58%; histological diagnosis: n = 73/96, 76%), allowing the classification of patients into 6 groups: monogenic myopathy (n = 42), mitochondriopathy (n = 19), unspecified myopathy (n = 26), autoimmune myopathy (n = 8), neuropathy (n = 9), and others (n = 26). Survival and postoperative outcomes differed across groups. In this cohort, patients with monogenic myopathy had the most favorable long-term survival (adjusted hazard ratio: 0.06, 95% CI: 0.01-0.42; P = 0.004) and higher rates of improvement after bowel resection compared with other patients. DISCUSSION: Integrated genetic and histological evaluation informed etiological classification in adults with CIPO and may aid clinical decision-making.
SN - 0002-9270
SN - 1572-0241
ER -