Ann Pathol
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Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal tumors of the gastrointestinal tract. Major advances in their definition and classification and the understanding of their molecular mechanisms have recently been made. These advances have resulted in the delineation of a treatment that has become a model of targeted therapy in oncology. ⋯ Prognosis is based on a simple algorithm using two histoprognostic parameters, i.e., tumor size and mitotic index. The treatment of localized GIST is surgical resection, which must be complete; that of advanced or unresectable GIST is based on the use of a targeted therapy, imatinib, which is a pharmacological antagonist of the KIT protein. Proper understanding and utilisation of the diagnostic criteria and classification of GIST by pathologists are essential for good patient management.
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Hirschsprung's disease (1/5000 live births) is defined by the congenital absence of neuronal cells in the nervous plexuses in the distal part of the digestive tract. The disease affects the rectum and sigmoid colon in 80% of cases, or is more extensive. Hirschsprung's disease is suspected in cases of low gastrointestinal obstruction in the neonatal period, or in cases of chronic severe constipation in childhood. ⋯ Different genes (RET, most often) may be involved in sporadic or familial Hirschsprung's disease. Hirschsprung's disease is associated with other digestive or extra-digestive abnormalities in 5 to 30% of patients. Associated abnormalities may delay the diagnosis and treatment of Hirschsprung's disease.