Multifocal gastric gastrointestinal stromal tumors (GISTs) with lymph node metastases in children and young adults: A comparative clinical and histomorphological study of three cases including a new case of Carney triad by Illerhaus Gerald, Hoeppner Jens, Rädecke Jochen, Braun Alexander, Agaimy Abbas, Otto Claudia, Werner Martin, Kontny Udo, Haller Florian

“…<p>Abstract</p> <p>Background</p> <p>Gastrointestinal stromal tumors (GISTs) are the most frequent mesenchymal tumors of the gastrointestinal tract usually occurring in the 6^thto 7^thdecade of life, while their occurrence in children is rare (1-2%).</p> <p>Carney triad (CT), a non-hereditary association of gastric GIST with pulmonary chondroma and/or extraadrenal paraganglioma, is an even much rarer disease (to date ~120 cases reported worldwide) usually affecting young adult females. …”
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Molecular features and genetic markers of gastrointestinal stromal tumors by N. N. Mazurenko, I. МЮ Tsyganova

“…The other GISTs patients have familial syndromes (neurofibromatosis type 1, Carney–Stratakis syndrome, Carney triad) and contain germline mutations of NF1 or the genes coding for the succinate dehydrogenase subunits SDHA, SDHB, SDHC, and SDHD. …”
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Multifocal gastrointestinal stromal tumor with osseous metaplasia: a case report by Maryam Abdullah Al Saleem, Nida Mirzaman Khan, Tarek Mohammad ElSharkawy

“…Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney–Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1. …”
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Gastrointestinal stromal tumours: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up by Casali, P, Abecassis, N, Bauer, S, Biagini, R, Bielack, S, Bonvalot, S, Boukovinas, I, Bovee, J, Brodowicz, T, Broto, J, Buonadonna, A, De Álava, E, Dei Tos, A, Del Muro, X, Dileo, P, Eriksson, M, Fedenko, A, Ferraresi, V, Ferrari, A, Ferrari, S, Frezza, A, Gasperoni, S, Gelderblom, H, Gil, T, Grignani, G, Gronchi, A, Hannu, A, Hassan, A, Hohenberger, P, Issels, R, Joensuu, H, Jones, R, Judson, I, Jutte, P, Kaal, S, Kasper, B, Kopeckova, K, Krákorová, D, Le Cesne, A, Lugowska, I, Merimsky, O, Montemurro, M, Pantaleo, M, Piana, R, Picci, P, Piperno-Neumann, S, Pousa, A, Reichardt, P, Robinson, M, Rutkovski, P, Safwat, A, Schöffski, P, Sleijfer, S, Stacchiotti, S, Sundby Hall, K, Unk, M, Van Coevorden, F, Van der Graaf, W, Whelan, J, Wardelmann, E, Zaikova, O, Blay, J

“…</p> <br/> <p>Some syndromes are linked to GISTs:</p> <br/> <p>• The Carney triad syndrome, marked by gastric GISTs, paraganglioma and pulmonary chondromas (these may occur at different ages);</p> <br/> <p>• Carney–Stratakis syndrome, marked by a dyad of GIST and paraganglioma; and</p> <br/> <p>• Neurofibromatosis type 1(NF1), possibly leading to wild-type (WT), often multicentric GIST, predominantly located in the small bowel</p> <br/> <p>Families with germline autosomal dominant mutations of KIT are an extremely rare finding, presenting with multiple GISTs at an early age, possibly along with other associated features such as pigmented skin macules, urticaria pigmentosa and diffuse hyperplasia of the interstitial cells of Cajal in the gut wall.…”