scholarly journals Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors

2007 ◽  
Vol 92 (8) ◽  
pp. 2938-2943 ◽  
Author(s):  
Ludmila Matyakhina ◽  
Thalia A. Bei ◽  
Sarah R. McWhinney ◽  
Barbara Pasini ◽  
Silke Cameron ◽  
...  
2010 ◽  
Vol 24 (1) ◽  
pp. 147-151 ◽  
Author(s):  
José Gaal ◽  
Constantine A Stratakis ◽  
J Aidan Carney ◽  
Evan R Ball ◽  
Esther Korpershoek ◽  
...  

2007 ◽  
Vol 131 (9) ◽  
pp. 1393-1396
Author(s):  
Janet Graham ◽  
Maria Debiec-Rychter ◽  
Christopher L. Corless ◽  
Robin Reid ◽  
Rosemarie Davidson ◽  
...  

Abstract Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distinguished by expression of CD117 (c-Kit). Oncogenic mutations in the KIT or PDGFRA gene are detected in approximately 85% of sporadic GISTs. In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib.


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.


2021 ◽  
pp. 1-4
Author(s):  
Steven Craig ◽  
Samuel R Thomson ◽  
Su Ang ◽  
Steven Craig

Gastrointestinal stromal tumors (GIST) are uncommon mesenchymal neoplasms of the gastrointestinal tract. The majority of GISTs are the result of sporadic mutations, most commonly of the KIT proto-oncogene. Germline mutations account for 5% of GISTs and result in rare familial syndromes. We present a 66-year-old male with a family history of GIST who presented with mild abdominal pain and was found to have a massive, multifocal GIST. The main tumor was resected via laparotomy and the weight was found over 2 kg. He was commenced on adjuvant therapy with imatinib and will be closely monitored. Familial GISTs tend to be larger, multifocal and diagnosed at a younger age. Familial GISTs are extremely rare conditions. There is little to no evidence on the long-term outcomes of treatment on which to base management decisions.


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.


2001 ◽  
Vol 127 (1) ◽  
pp. 30-33 ◽  
Author(s):  
Josette Derré ◽  
Réal Lagacé ◽  
Philippe Terrier ◽  
Xavier Sastre ◽  
Alain Aurias

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.


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