We communicate a case with the Carney triad (gastric leiomyosarcoma, pulmonary chondromatosis and extra-adrenal paraganglioma). It is, to our knowledge, the first case to be communicated in the Spanish scientific literature. We discuss some peculiar aspects of the debut and clinical evolution of this syndrome, together with its prognosis. We conclude that in clinical practice, the appearance in a young subject, specifically females, of multiple gastric myogenic tumors, should elicit the performance of further noninvasive procedures, needed to discard the diagnosis of the Carney triad.
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The diagnosis of gastrointestinal stromal tumors (GISTs) is generally straightforward using a combination of histologic evaluation and pertinent immunohistochemical staining with CD117/kit and DOG-1 (discovered on GIST) antibodies. However, this tumor can be challenging in cases with an unusual morphology, in limited biopsies, for those in uncommon sites, post-treatment, and when other neoplasms express CD117/kit and DOG-1, thereby mimicking GIST. Finding epithelioid GISTs in the stomach in younger patients should prompt testing for succinate dehydrogenase (SHD)-deficiency using immunohistochemical staining for subunit B (SDHB).
View Article and Find Full Text PDFIncomplete Carney Triad.
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