scholarly journals SDHB immunohistochemistry: a useful tool in the diagnosis of Carney–Stratakis and Carney triad gastrointestinal stromal tumors

2010 ◽  
Vol 24 (1) ◽  
pp. 147-151 ◽  
Author(s):  
José Gaal ◽  
Constantine A Stratakis ◽  
J Aidan Carney ◽  
Evan R Ball ◽  
Esther Korpershoek ◽  
...  
2014 ◽  
Vol 21 (4) ◽  
pp. C7-C9
Author(s):  
Adrian F Daly ◽  
Albert Beckers

This issue analyzes new work expanding the range of how genetic dysregulation of succinate dehydrogenase subunit (SDHx) genes can cause cancer syndromes with a prominent endocrine component, in this case Carney triad, which is characterized by gastrointestinal stromal tumors, paraganglioma, and pulmonary chondromas.


2020 ◽  
Vol 148 (1-2) ◽  
pp. 115-118
Author(s):  
Ljiljana Zivgarevic ◽  
Nebojsa Kozarevic ◽  
Svetlana Zunic

Introduction. Carney triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors ? intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin, pulmonary chondromas, and extra-adrenal paragangliomas. The term incomplete Carney triad more precisely refers to the occurrence of at least two of these tumor types. Carney triad named after J. Aidan Carney is considered to be a specific type of multiple endocrine neoplasia. Less than 30 cases of complete and less than 100 cases of incomplete Carney triad have been reported worldwide. Carney triad primarily affects young women (mean age of onset of 20 years). Case outline. A 35-year-old female patient had an initial presentation at the National PET Center, Clinical Center of Serbia, after the gastrectomy, with multiple hepatic metastases as well as bilateral pulmonary chondromas. 18F-FDG PET/CT scan revealed the following: 1) intense 18F-FDG uptake in the liver metastatic lesions, with reduced physiological activity in the brain and heart, bowel, and renal tracer uptakes commonly known as FDG hepatic superscan; 2) multiple irregular-shaped lesions, mostly calcified in bilateral pulmonary parenchyma; 3) a nodular lesion in the left adrenal gland with accumulation of 18F-FDG in its anterior part. Conclusion. The present study describes a hepatic superscan in a patient with incomplete Carney triad, including gastrointestinal stromal tumors and pulmonary bilateral chondromas, as well as a tumor in the left adrenal gland.


2019 ◽  
Vol 51 (07) ◽  
pp. 437-442 ◽  
Author(s):  
Arushi Khurana ◽  
Lin Mei ◽  
Anthony C. Faber ◽  
Steven C. Smith ◽  
Sosipatros A. Boikos

AbstractCarney-Stratakis Syndrome (CSS) comprises of paragangliomas (PGLs) and gastrointestinal stromal tumors (GISTs). Several of its features overlap with Carney Triad (CT) - PGLs, GISTs, and pulmonary chondromas. CSS has autosomal dominant inheritance, incomplete penetrance, and greater relative frequency of PGL over GISTs. The PGLs in CSS are multicentric and GISTs are multifocal in all the patients, suggesting an inherited susceptibility and associating the two manifestations. In this review, we highlight the clinical, pathological, and molecular characteristics of CSS, along with its diagnostic and therapeutic implications.


2020 ◽  
Vol 22 (2) ◽  
pp. 133-136
Author(s):  
Daria A. Filonenko ◽  
Andrey A. Meshcheryakov ◽  
Petr P. Arkhiri ◽  
Maxim P. Nikulin ◽  
Evgeniia S. Kolobanova

Succinate dehydrogenase deficient gastrointestinal stromal tumors (dSDH GIST) is a unique group of GISTs with an energy metabolism defect as the key oncogenic mechanism without mutations in the proto-oncogene receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor a (PDGFRA). SDH-deficiency is a result of mutations in SDHA, SDHB, SDHC, SDHD. There are three variants of dSDH GIST: sporadic dSDH GIST, Carney triad or Carney-Stratakis syndrome. dSDH GISTs are characterized by young age, female prevalence, gastric location, multiple tumors, lymph node metastases, indolent behavior and poorly response to imatinib. Despite the literature data, we report the response to imatinib in patient with dSDH GIST. 21 year old female patient presented with incomplete Carney triad (multiply gastric GIST with liver and peritoneal metastases, left lung chondroma). The patient received imatinib with clinical response in a month and radiological response in three months-cystic transformation of primary gastric tumor and liver metastases. The duration of response was 8 months.


2001 ◽  
Vol 120 (5) ◽  
pp. A401-A401 ◽  
Author(s):  
D EFRON ◽  
K LILLEMOE ◽  
J CAMERON ◽  
S TIERNEY ◽  
S ABRAHAM ◽  
...  

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