scholarly journals Carney’s triad in an adult male from a tertiary care center in India: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ghazal Tansir ◽  
Nihar Ranjan Dash ◽  
Saurabh Galodha ◽  
Prasenjit Das ◽  
Shamim Ahmed Shamim ◽  
...  

Abstract Background Carney’s triad is a rare syndrome comprising gastrointestinal stromal tumor, extra-adrenal paraganglioma, and pulmonary chondroma along with newer additions of adrenal adenoma and esophageal leiomyoma. The triad is completely manifest in only 25–30% cases, with most patients presenting with two out of three parts of the syndrome. Wild-type succinate-dehydrogenase-deficient gastric gastrointestinal stromal tumor forms the most common component of Carney’s triad and is usually multicentric and multifocal. It usually demonstrates indolent behavior and resistance to imatinib; hence, the management remains predominantly surgical. Pulmonary chondromas are commonly unilateral and multiple with slow-growing nature, which allows for conservative management. Adrenocortical adenomas are found in 20% of patients and are usually detected as incidentalomas. Case presentation A 49-year-old Asian male presented with upper gastrointestinal bleed and was diagnosed with multiple gastric succinate-dehydrogenase-deficient gastrointestinal stromal tumors. On evaluation, he was found to have left pulmonary chondroma and non-secretory adrenal adenoma, thus completing the Carney’s triad. He underwent surgery with sleeve gastrectomy and excision of the antral tumor nodule, while the adrenal and pulmonary tumors have been under close follow-up. Conclusion Literature regarding Carney’s triad is scarce, especially from the Indian setting. Our report aims to highlight the various manifestations of this syndrome with emphasis on management of wild-type succinate-dehydrogenase-deficient gastrointestinal stromal tumor. Radical gastric surgeries do not offer a survival advantage in this condition; hence, more conservative modalities of resection can be adopted.

2021 ◽  
pp. FSO676
Author(s):  
Saurav Verma ◽  
Rohit Reddy ◽  
Sheragaru Hanumanthappa Chandrashekhara ◽  
Shamim Ahmed Shamim ◽  
Sarthak Tripathy ◽  
...  

The therapeutic landscape in advanced gastrointestinal stromal tumor has evolved. Avapritinib and ripretinib have now been approved by the US FDA for platelet-derived growth factor alpha D842V-mutant and refractory gastrointestinal stromal tumor patients, respectively. Here we report five patients who have been on avapritinib under an expanded access program. Response assessment was available for four patients – a partial response in two patients and stable disease in one, while one patient had progressive disease. Though preliminary results of the VOYAGER trial have shown less activity of avapritinib and no significant difference in progression-free survival when compared with regorafenib, avapritinib may show some clinical benefit in a subset of patients refractory to approved therapies. We share our experience of five cases, with clinical benefit in three. We believe avapritinib should be further evaluated in clinical trials.


Author(s):  
Edward C. Rosenow

1. Pulmonary chondroma 2. Gastrointestinal stromal tumor (GIST), formerly, gastric epithelioid leiomyosarcoma 3. Functioning extra-adrenal paraganglioma • Triad eventually present in more than half of patients • 〉90% of patients are female • Mean age: 17 years • Mechanism: unknown (disease absent in 1 identical twin)...


2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi55-vi55
Author(s):  
Adam Lauko ◽  
Assad Ali ◽  
Soumya Sagar ◽  
Addison Barnett ◽  
Hong Li ◽  
...  

Abstract BACKGROUND Immunotherapy is increasingly used in patients with non-small cell lung cancer brain metastases (NSCLCBM). KRAS mutations are associated with worse prognosis and there is no FDA approved targeted therapy. KRAS mutations are associated with increased expression of PD-L1. We evaluated the outcomes of NSCLCBM with KRAS mutations treated with immune checkpoint inhibitors (ICI). METHODS We reviewed 800 patients with NSCLCBM treated at our tertiary care center. 226 had known KRAS mutational status, 121 of which received immunotherapy. Overall survival (OS) was calculated from either the start of immunotherapy (when both groups received immunotherapy) or from the date of diagnosis of brain metastasis. Kaplan-Meier method and Cox Proportional hazard model were utilized to determine differences in OS and the Chi-square test was utilized to determine differences in PD-L1 expression. RESULTS In 109 patients where both KRAS and PD-L1 status were known, KRAS mutations had greater PD-L1 expression (80.1% vs 61.9% positive, p=0.04). There was no difference in OS between KRAS mutant vs KRAS wild-type patients treated with immunotherapy. Median survival from the start of immunotherapy was 15.6 vs 15.5 months respectively (p=0.7), after adjusting for age, KPS, lesion number and extra-cranial metastasis (HR = .91, p=.7). Patients with KRAS mutations treated with immunotherapy versus those who received chemotherapy had a 1-year OS from the diagnosis of brain metastasis of 60.9% vs 38.7% respectively (trending towards significance, p=0.05). KRAS wild-type patients treated with immunotherapy versus those who did not receive immunotherapy had a 1-year OS from the diagnosis of brain metastasis of 61.9% vs 62.5% (p=0.85), respectively. DISCUSSION KRAS mutations are associated with increased PD-L1 expression. Use of immunotherapy negates the poor outcomes seen traditionally in patients with NSCLCBM and KRAS mutations and it improves survival compared to use of chemotherapy. Our experience supports the use of immunotherapy in these patients.


2020 ◽  
Vol 43 (9) ◽  
pp. 470-473
Author(s):  
Mathilde Gheysen ◽  
Sara Vander Borght ◽  
Stefan Lehnert ◽  
Ragna Vanslembrouck ◽  
Isabelle Vanden Bempt ◽  
...  

2008 ◽  
Vol 50 (2) ◽  
pp. 386-388 ◽  
Author(s):  
Matthew Murray ◽  
Helen Hatcher ◽  
Flora Jessop ◽  
Denise Williams ◽  
Nicholas Carroll ◽  
...  

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