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An unusual case of mediastinal mass and bilateral nodules


Wichmann, Charlotte Lilli Elena; Helmchen, Birgit; Weber, Achim; Wildi, Stefan; Carboni, Giovanni Luca (2013). An unusual case of mediastinal mass and bilateral nodules. Asian Cardiovascular and Thoracic Annals, 22(5):623-626.

Abstract

A 23-year-old woman presented with a mediastinal paraganglioma and multiple pulmonary chondromas following antral gastric resection for gastrointestinal stromal tumor. These tumors form the Carney triad, a rare disorder of unknown genetic background. First described in 1977, approximately 120 cases have been documented in the literature. The tumors do not harbor the specific c-kit or PDGFRA gene mutations often found in sporadic gastrointestinal stromal tumor. In most cases, gastric gastrointestinal stromal tumor is the first tumor to be detected, with secondary tumors appearing years later. Even if it is rare, Carney triad should be suspected in young patients with history of gastrointestinal stromal tumor.

Abstract

A 23-year-old woman presented with a mediastinal paraganglioma and multiple pulmonary chondromas following antral gastric resection for gastrointestinal stromal tumor. These tumors form the Carney triad, a rare disorder of unknown genetic background. First described in 1977, approximately 120 cases have been documented in the literature. The tumors do not harbor the specific c-kit or PDGFRA gene mutations often found in sporadic gastrointestinal stromal tumor. In most cases, gastric gastrointestinal stromal tumor is the first tumor to be detected, with secondary tumors appearing years later. Even if it is rare, Carney triad should be suspected in young patients with history of gastrointestinal stromal tumor.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Pathology and Molecular Pathology
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:8 October 2013
Deposited On:26 Nov 2014 08:36
Last Modified:08 Dec 2017 08:20
Publisher:Sage Publications Ltd.
ISSN:0218-4923
Publisher DOI:https://doi.org/10.1177/0218492313483586
PubMed ID:24867041

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