Challenging differential diagnosis of a wild-type gastroinrestinal stromal tumour (GIST) or rare reticular perineurioma of the stomach? : the role of mutational analysis

States differential diagnosis of submucosal stomach lesions includes gastrointestinal stromal tumour (GIST), leiomyoma, synovial sarcomas, perineurioma, myxoid chondrosarcoma, myoepithelial tumour and other rare mesenchymal tumours. Present two stomach tumours that were operated in our Southland Hospital surgical department. Both presented with positive immunoreactivity for CD117. In one tumour, c-Kit mutation analysis demonstrated positivity of exon 11_c.1674_1676delGGT, thus confirming the diagnosis of a GIST. Mutational analysis of the second stomach lesion demonstrated negativity for all known c-KIT and PDGFRA exons. Source: National Library of New Zealand Te Puna Matauranga o Aotearoa, licensed by the Department of Internal Affairs for re-use under the Creative Commons Attribution 3.0 New Zealand Licence.