Separate Occurrence of Extra-adrenal Paraganglioma and Gastrointestinal Stromal Tumor in Monozygotic Twins: Probable Familial Carney Syndrome

2004 ◽  
Vol 7 (4) ◽  
pp. 380-384 ◽  
Author(s):  
Liliane Boccon-Gibod ◽  
Françoise Boman ◽  
Sabah Boudjemaa ◽  
Monique Fabre ◽  
Guy Leverger ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Stromal Tumor ◽  
Gastric Gist ◽  
Carney Triad ◽  
Pulmonary Chondroma ◽  
Carney Syndrome ◽  
Extra Adrenal Paraganglioma

The nonfamilial Carney triad includes paraganglioma, gastrointestinal stromal tumor (GIST), and pulmonary chondroma. Some paraganglioma-GIST diads are familial and inherited in an apparent autosomal dominant manner. The familial paraganglioma-GIST syndrome differs from the Carney triad by the absence of female predilection and predominance of paragangliomas. We report the cases of a 12-year-old boy with a paraganglioma of the organ of Zuckerkandl, and his 13-year-old monozygotic twin with a gastric GIST. These two patients, to our knowledge, are the first to be reported as likely having the familial paraganglioma-GIST syndrome following its description by Carney and Stratakis (Am J Med Genet 2002;108:132–139) in 12 patients from five families. A lifetime follow-up and a periodic search for both tumors are indicated in these patients and their families.

Carney Triad

2010 ◽  
pp. 806-816
Author(s):  
Edward C. Rosenow
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Stromal Tumor ◽  
Identical Twin ◽  
Carney Triad ◽  
Pulmonary Chondroma ◽  
Extra Adrenal Paraganglioma

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)...

scholarly journals Endoscopic Resection of Gastrointestinal Stromal Tumor: Is It Safe?

2021 ◽  
Vol 21 (3) ◽  
pp. 180-187
Author(s):  
Moon Kyung Joo
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Endoscopic Resection ◽  
Stromal Tumor ◽  
R0 Resection ◽  
Gastric Gist ◽  
Long Term Follow Up ◽  
Procedural Complications ◽  
Selection Of

Recently, results from clinical studies of endoscopic resection of gastrointestinal stromal tumor (GIST) in the stomach are being reported. This procedure has several advantages, such as the provision of a definite diagnosis and therapeutic plan, avoidance of frequent follow-up examination, and reduction of patients’ anxiety. However, several concerns also exist such as a limited number of studies, low R0 resection rate, and relatively shorter follow-up period compared with surgical resection. Nevertheless, it is encouraging that most of the post-procedural complications have been treated with conservative management and that some of the patients did not show recurrence of the tumor during long-term follow-up. The selection of suitable cases and the experience of the endoscopists are the most important factors for successful endoscopic resection of gastric GIST. Development of novel procedures as well as collaboration with laparoscopic surgeons are currently in progress.

scholarly journals Rectal Gastrointestinal Stromal Tumor (GIST): About a Rare and Unusual Case

2021 ◽  
Vol 6 (11) ◽  
pp. 814-817
Author(s):  
Abderrahmane Jallouli ◽  
Mariama Jarti ◽  
Marj Zohour Haida ◽  
Mouna El Bouatmani ◽  
Adil Ait Errami ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Kinase Inhibitors ◽  
Stromal Tumor ◽  
Large Tumor ◽  
Lower Rectum ◽  
Local Invasion ◽  
Rectal Gist ◽  
Multidisciplinary Consultation

Rectal gastrointestinal stromal tumors (GIST) are extremely rare, accounting for approximately 0.1% of all rectal tumors. Diagnosis is based on histological and immunohistochemical confirmation. We report the case of a 38-year-old patient with a rectal GIST revealed by chronic rectal bleeding associated with rectal tenesmus, abdominal pain with painful contractions and frequent evacuations evolving in a context of altered general state. Rectoscopy was used to visualize the tumor mass and to take biopsies; their histological and immunohistochemical study revealed a rectal location of a gastrointestinal stromal tumor. The extension assessment was negative. After discussion of the case in a multidisciplinary consultation meeting, management consisted of initially putting the patient on Imatinib given the large tumor size, the degree of local invasion and the location of the mass (lower rectum), with regular follow-up in order to schedule a less invasive surgical resection later. Despite the rarity of rectal GIST, early diagnosis is necessary to avoid progression to locoregional invasion complicating some surgical resections given the anatomical constraints of the pelvic region. Hence the interest of neoadjuvant therapy with tyrosine kinase inhibitors allowing in some cases a decrease in tumor volume, a regression of the degree of local invasion and a decrease in the morbidity of the surgery in order to improve the patient's quality of life.

Fulminant Hepatic Failure Caused by Diffuse Liver Metastases following Gastrointestinal Stromal Tumor Resection

2009 ◽  
Vol 2 ◽  
pp. CGast.S3221
Author(s):  
Abdel-Rauf Zeina ◽  
Alicia Nachtigal ◽  
Eugene Vlodavsky ◽  
Jochanan E. Naschitz
Keyword(s):  
Liver Metastases ◽  
Gastrointestinal Stromal Tumor ◽  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Tumor Resection ◽  
Stromal Tumor ◽  
Prognostic Features ◽  
Elevated Liver Enzymes ◽  
Complete Tumor

Metastatic tumors to the liver resulting in fulminant hepatic failure are a rare occurrence and have not been previously described in patients with gastrointestinal stromal tumor (GIST). A 70 year-old man was referred to hospital with postprandial discomfort. On examination a 19.5 cm large epithelioid GIST of the stomach was diagnosed. The mass exhibited unfavorable prognostic features: mitotic index 18/50 high-power fields, large primary tumor size and male sex. Complete tumor resection with negative margins was achieved and metastases were not detected. The patient presented six months later with jaundice, asterixis and elevated liver enzymes. Computerized tomography showed multiple liver hypodense lesions representing metastases. Treatment with imatinib mesylate was of no avail and the patient died 3 days later as the result of hepatic failure. Massive liver metastases can, even though rarely, be responsible for fulminant hepatic failure. Clinical and radiological follow-up are crucial in patients with GIST even after surgical resection.

A multinational phase II clinical trial of neoadjuvant imatinib for large gastrointestinal stromal tumor of the stomach.

2016 ◽  
Vol 34 (4_suppl) ◽  
pp. 130-130
Author(s):  
Han-Kwang Yang ◽  
Yukinori Kurokawa ◽  
Min-Hee Ryu ◽  
Haruhiko Cho ◽  
Sook Ryun Park ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Adverse Events ◽  
Gastrointestinal Stromal Tumor ◽  
Neoadjuvant Treatment ◽  
Stromal Tumor ◽  
Maximal Response ◽  
R0 Resection ◽  
Gastric Gist ◽  
Efficacy And Safety ◽  
Resection Rate

130 Background: Neoadjuvant therapy is expected to reduce the risk of primary surgery, such as rupture of the tumor, hemorrhage, and multi-visceral resection, and to improve survivals for patients with a large gastric gastrointestinal stromal tumor (GIST). This study aims to evaluate the efficacy and safety of neoadjuvant imatinib therapy for a large gastric GIST. Methods: Patients with gastric GIST, which is 10cm or larger and without metastasis, received neoadjuvant imatinib (400mg/day) for 6 months, and up to 9 months if maximal response is expected. Postoperative adjuvant imatinib was prescribed for at least 1 year and up to 3 years according to adjuvant treatment guideline. The primary endpoint was complete (R0) resection rate. A primary analysis were performed by the time all the operations were finished, to examine the efficacy and safety of the neoadjuvant treatment. Results: Between Feb 2010 and Sep 2014, 55 patients were enrolled in Japan and Korea. One patient with a jejunal GIST and one patient with PDGFRA-18 D842V mutation were excluded from analysis. Mean tumor diameter was 12cm (10-23). 86.8% of patients (46/53) completed neoadjuvant treatment. Dose reduction of imatinib was performed in 26.4% (14/53). The most frequent Grade 3 or 4 adverse events were G3 rash (5/53, 9.4%) and G3/4 neutropenia (4/53, 7.5%). Disease control rate (PR+SD) and response rate (PR) of neoadjuvant imatinib was 100% and 62.3% by RECIST, and 100% and 98.1% by Choi criteria, respectively. There was no case of CR or PD. 50 patients underwent operation, and R0 resection rate was 90.6% (n = 48, 95% CI 79.3% - 96.9%), which was significantly higher than the threshold value of 70% (p < 0.001). Combined resection of other organs (except gall bladder) was performed in 24.5% (n = 13), and 83.0% of patients (n = 44) could preserve ≥ 50% of the stomach. Postoperative complication occurred in 18.0% (9/50). Conclusions: Neoadjuvant imatinib treatment is effective and safe treatment option for a large primary GIST allowing high R0 resection rate with acceptable incidence of adverse events and postoperative complications. Clinical trial information: UMIN000003114.

Sa1543 Long Term Follow-Up Result of Endoscopic Resection of Gastric Gastrointestinal Stromal Tumor

2015 ◽  
Vol 81 (5) ◽  
pp. AB254-AB255
Author(s):  
Min Jae Yang ◽  
Sun Gyo Lim ◽  
Sung Jae Shin ◽  
Kee Myung Lee
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Endoscopic Resection ◽  
Stromal Tumor ◽  
Long Term Follow Up

Association of gastrointestinal stromal tumor (leiomyosarcoma), pulmonary chondroma, and nonfunctional retroperitoneal paraganglioma

1998 ◽  
Vol 31 (6) ◽  
pp. 537-540 ◽  
Author(s):  
Wellington Mendes ◽  
Ali Ayoub ◽  
Paulo Chapchap ◽  
Celia B.G. Antoneli ◽  
Simone Treiger Sredni ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Stromal Tumor ◽  
Pulmonary Chondroma

scholarly journals Integrating Anatomical, Molecular and Clinical Risk Factors in Gastrointestinal Stromal Tumor of the Stomach

2021 ◽  
Author(s):  
Toto Hølmebakk ◽  
Anne Marit Wiedswang ◽  
Leonardo A. Meza-Zepeda ◽  
Ivar Hompland ◽  
Ingvild V. K. Lobmaier ◽  
...  
Keyword(s):  
High Risk ◽  
Gastrointestinal Stromal Tumor ◽  
Neoadjuvant Treatment ◽  
Population Based ◽  
Stromal Tumor ◽  
Gastric Gist ◽  
Tumor Rupture ◽  
Free Survival ◽  
Risk Patients ◽  
Upper Third

Abstract Background Adjuvant imatinib for 3 years is recommended to patients with high-risk gastrointestinal stromal tumor (GIST). Risk stratification is inaccurate, and risk assessments are further complicated by the increased use of neoadjuvant treatment. Anatomical criteria for prognostication have not been investigated. Methods Clinical, molecular, and anatomical variables were retrospectively studied in a population-based cohort of 295 patients with gastric GIST resected between 2000 and 2018. Gastric subsite was divided into the upper, middle, and lower thirds. Growth pattern was classified as luminal, exophytic, or transmural based on imaging and surgical reports. Results Of 113 tumors in the upper third of the stomach, 103 (91.2%) were KIT mutated, 7 (6.2%) were PDGFRA mutated, and 104 (92.0%) harbored genotypes sensitive to imatinib. Transmural tumors were strongly associated with a high mitotic index. Five-year recurrence-free survival (RFS) was 71% for patients with transmural tumors versus 96% with luminal or exophytic tumors (hazard ratio [HR] 8.45, 95% confidence interval [CI] 3.69–19.36; p < 0.001), and, in high-risk patients, 5-year RFS was 46% for patients with transmural tumors versus 83% with luminal or exophytic tumors (HR 4.47, 95% CI 1.71–11.66; p = 0.001). Among 134 patients with tumors > 5 cm, there were 29 recurrences. Only five patients with exophytic or luminal tumors had recurrent disease, of whom four had tumor rupture. Five-year RFS for patients with exophytic/luminal tumors >5 cm without rupture was 98%. Conclusions In the upper third, over 90% of tumors were sensitive to imatinib. Patients with exophytic or luminal tumors without rupture, irrespective of size, had an excellent prognosis and may not benefit from adjuvant therapy.

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