Research in Medicine

Background and Aim: Hirschsprung’s disease is a congenital gastrointestinal disorder in which accurate diagnosis is of great importance. This study aimed to evaluate the diagnostic value of the PHOX2B (Paired- like Homeobox 2B) marker in identifying this disease among Iranian patients, as human studies in this field are limited and no similar research has been conducted in Iran to date.
Methods: In this cross- sectional study, 116 colon biopsy samples from patients suspected of Hirschsprung’s disease who were referred to Mofid Children’s Hospital during 2021-2022 were independently and blindly reviewed. Patients’ demographic information was recorded. The samples were first analyzed using hematoxylin and eosin (H&E) staining to assess the presence or absence of ganglion cells, followed by immunohistochemical (IHC) evaluation of the PHOX2B marker.
Results: The sensitivity of PHOX2B for diagnosing Hirschsprung’s disease was 100%, and its specificity was 95.65%. The positive predictive value (PPV) was 97.22%, and the negative predictive value (NPV) was 100%. The overall diagnostic accuracy was 98.28%. Among the 116 patients, Hirschsprung’s disease was confirmed in 70 cases and excluded in 46 cases. The findings from H&E and PHOX2B staining showed complete concordance (100%) between the two pathologists.
Conclusion: The PHOX2B marker demonstrates high sensitivity and specificity, making it an effective diagnostic tool for Hirschsprung’s disease. These findings suggest that its use may play a key role in the accurate diagnosis and detection of this condition.