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Updated: May 22, 2026
05:45
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
The Hirschsprung's-multiple endocrine neoplasia connection
1Division of Pediatric Surgery, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa. swm@sun.ac.za
Clinics (Sao Paulo, Brazil)
|May 16, 2012
Summary
Patients with Hirschsprung's disease face an increased risk of developing multiple endocrine neoplasia 2. Genetic testing of the rearranged during transfection (RET) gene, particularly the RET620 area, can identify at-risk individuals for early intervention.
Area of Science:
- Genetics
- Oncology
- Pediatric Surgery
Background:
- Hirschsprung's disease is a congenital disorder affecting the large intestine.
- Multiple Endocrine Neoplasia type 2 (MEN2) is a hereditary cancer syndrome.
- A known association exists between Hirschsprung's disease and MEN2.
Purpose of the Study:
- To investigate the genetic link between Hirschsprung's disease and MEN2.
- To identify specific genetic variations and
- hot spots
- for risk assessment.
- To highlight the clinical implications for early diagnosis and management.
Main Methods:
- Analysis of the rearranged during transfection (RET) gene.
- Investigating gene variations and their association with Hirschsprung's disease and MEN2.
- Focusing on the cysteine-rich area of RET620.
Main Results:
- RET gene variations are associated with both Hirschsprung's disease and MEN2.
- Cosegregation of these conditions involves complex RET proto-oncogene activation/suppression.
- The RET620 area is identified as a genetic
- hot spot
- for risk identification.
Conclusions:
- Understanding the RET-620 relationship enables cost-effective genetic risk assessment.
- Genetic testing for RET variations facilitates early detection and prophylactic management of MEN2-related conditions, including medullary thyroid carcinoma.
- This genetic knowledge supports novel therapeutic strategies and integrates molecular medicine into patient care.
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