20 results on '"Duman, Deniz Guney"'
Search Results
2. External validation of the Toronto hepatocellular carcinoma risk index in Turkish cirrhotic patients
- Author
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Demirtas, Coskun Ozer, Gunduz, Feyza, Kani, Haluk Tarik, Keklikkiran, Caglayan, Alahdab, Yesim Ozen, Yilmaz, Yusuf, Duman, Deniz Guney, Atug, Ozlen, Giral, Adnan, Aslan, Rahmi, Cagatay, Nur Sena, Ozkan, Bige, and Ozdogan, Osman Cavit
- Published
- 2020
- Full Text
- View/download PDF
3. Advanced endoscopic ultrasound management techniques for preneoplastic pancreatic cystic lesions
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Arshad, Hafiz Muhammad Sharjeel, Bharmal, Sheila, Duman, Deniz Guney, Liangpunsakul, Suthat, and Turner, Brian G
- Published
- 2017
- Full Text
- View/download PDF
4. External validation of the Toronto hepatocellular carcinoma risk index in Turkish cirrhotic patients
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Demirtas, Coskun Ozer, primary, Gunduz, Feyza, additional, Kani, Haluk Tarik, additional, Keklikkiran, Caglayan, additional, Alahdab, Yesim, additional, Yılmaz, Yusuf, additional, Duman, Deniz Guney, additional, Atug, Ozlen, additional, Giral, Adnan, additional, Aslan, Rahmi, additional, Cagatay, Nur Sena, additional, Ozkan, Bige, additional, and Ozdogan, Osman Cavit, additional
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- 2020
- Full Text
- View/download PDF
5. sj-pdf-1-ueg-10.1177_2050640620934911 - Supplemental material for European Guideline on IgG4-related digestive disease – UEG and SGF evidence-based recommendations
- Author
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J-Matthias Löhr, Beuers, Ulrich, Vujasinovic, Miroslav, Alvaro, Domenico, Frøkjær, Jens Brøndum, Buttgereit, Frank, Capurso, Gabriele, Culver, Emma L, De-Madaria, Enrique, Della-Torre, Emanuel, Detlefsen, Sönke, Dominguez-Muñoz, Enrique, Czubkowski, Piotr, Ewald, Nils, Frulloni, Luca, Gubergrits, Natalya, Duman, Deniz Guney, Hackert, Thilo, Iglesias-Garcia, Julio, Kartalis, Nikolaos, Laghi, Andrea, Lammert, Frank, Lindgren, Fredrik, Okhlobystin, Alexey, Oracz, Grzegorz, Parniczky, Andrea, Mucelli, Raffaella Maria Pozzi, Rebours, Vinciane, Rosendahl, Jonas, Schleinitz, Nicolas, Schneider, Alexander, Bommel, Eric FH Van, Verbeke, Caroline Sophie, Vullierme, Marie Pierre, and Witt, Heiko
- Subjects
FOS: Clinical medicine ,FOS: Biological sciences ,111199 Nutrition and Dietetics not elsewhere classified ,FOS: Health sciences ,110308 Geriatrics and Gerontology ,69999 Biological Sciences not elsewhere classified ,111299 Oncology and Carcinogenesis not elsewhere classified - Abstract
Supplemental material, sj-pdf-1-ueg-10.1177_2050640620934911 for European Guideline on IgG4-related digestive disease – UEG and SGF evidence-based recommendations by J-Matthias Löhr, Ulrich Beuers, Miroslav Vujasinovic, Domenico Alvaro, Jens Brøndum Frøkjær, Frank Buttgereit, Gabriele Capurso, Emma L Culver, Enrique de-Madaria, Emanuel Della-Torre, Sönke Detlefsen, Enrique Dominguez-Muñoz, Piotr Czubkowski, Nils Ewald, Luca Frulloni, Natalya Gubergrits, Deniz Guney Duman, Thilo Hackert, Julio Iglesias-Garcia, Nikolaos Kartalis, Andrea Laghi, Frank Lammert, Fredrik Lindgren, Alexey Okhlobystin, Grzegorz Oracz, Andrea Parniczky, Raffaella Maria Pozzi Mucelli, Vinciane Rebours, Jonas Rosendahl, Nicolas Schleinitz, Alexander Schneider, Eric FH van Bommel, Caroline Sophie Verbeke, Marie Pierre Vullierme, Heiko Witt and the UEG guideline working group in United European Gastroenterology Journal
- Published
- 2020
- Full Text
- View/download PDF
6. Mesenchymal Stem Cells In Rat Hepatic Fibrosis Mmodel: Benefits? Mechanism Of Action?
- Author
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Duman, Deniz Guney, Ugurlu, Umit Mustafa, Zibandeh, Noushin, Akkoc, Tolga, Banzragch, Munkhtsetseg, Genc, Deniz, Celikel, Cigdem, and Akkoc, Tunc
- Abstract
Öz bulunamadı.
- Published
- 2017
7. THU495 - External validation of the Toronto hepatocellular carcinoma risk index in Turkish cirrhotic patients
- Author
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Demirtas, Coskun Ozer, Gunduz, Feyza, Kani, Haluk Tarik, Keklikkiran, Caglayan, Alahdab, Yesim, Yılmaz, Yusuf, Duman, Deniz Guney, Atug, Ozlen, Giral, Adnan, Aslan, Rahmi, Cagatay, Nur Sena, Ozkan, Bige, and Ozdogan, Osman Cavit
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- 2020
- Full Text
- View/download PDF
8. Mesenchymal Stem Cells in Rat Hepatic Fibrosis MModel: Benefits? Mechanism of Action?: 2017 Presidential Poster Award
- Author
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Duman, Deniz Guney, primary, Ugurlu, Umit Mustafa, additional, Zibandeh, Noushin, additional, Akkoc, Tolga, additional, Banzragch, Munkhtsetseg, additional, Genc, Deniz, additional, Çelikel, Çiğdem, additional, and Akkoc, Tunç, additional
- Published
- 2017
- Full Text
- View/download PDF
9. European Guideline on IgG4-related digestive disease – UEG and SGF evidence-based recommendations
- Author
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Löhr, J-Matthias, Beuers, Ulrich, Vujasinovic, Miroslav, Alvaro, Domenico, Frøkjær, Jens Brøndum, Buttgereit, Frank, Capurso, Gabriele, Culver, Emma L, de-Madaria, Enrique, Della-Torre, Emanuel, Detlefsen, Sönke, Dominguez-Muñoz, Enrique, Czubkowski, Piotr, Ewald, Nils, Frulloni, Luca, Gubergrits, Natalya, Duman, Deniz Guney, Hackert, Thilo, Iglesias-Garcia, Julio, Kartalis, Nikolaos, Laghi, Andrea, Lammert, Frank, Lindgren, Fredrik, Okhlobystin, Alexey, Oracz, Grzegorz, Parniczky, Andrea, Mucelli, Raffaella Maria Pozzi, Rebours, Vinciane, Rosendahl, Jonas, Schleinitz, Nicolas, Schneider, Alexander, van Bommel, Eric FH, Verbeke, Caroline Sophie, Vullierme, Marie Pierre, and Witt, Heiko
- Abstract
The overall objective of these guidelines is to provide evidence-based recommendations for the diagnosis and management of immunoglobulin G4 (IgG4)-related digestive disease in adults and children. IgG4-related digestive disease can be diagnosed only with a comprehensive work-up that includes histology, organ morphology at imaging, serology, search for other organ involvement, and response to glucocorticoid treatment. Indications for treatment are symptomatic patients with obstructive jaundice, abdominal pain, posterior pancreatic pain, and involvement of extra-pancreatic digestive organs, including IgG4-related cholangitis. Treatment with glucocorticoids should be weight-based and initiated at a dose of 0.6–0.8 mg/kg body weight/day orally (typical starting dose 30-40 mg/day prednisone equivalent) for 1 month to induce remission and then be tapered within two additional months. Response to initial treatment should be assessed at week 2–4 with clinical, biochemical and morphological markers. Maintenance treatment with glucocorticoids should be considered in multi-organ disease or history of relapse. If there is no change in disease activity and burden within 3 months, the diagnosis should be reconsidered. If the disease relapsed during the 3 months of treatment, immunosuppressive drugs should be added.
- Published
- 2020
- Full Text
- View/download PDF
10. Advanced endoscopic ultrasound management techniques for preneoplastic pancreatic cystic lesions.
- Author
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Sharjeel Arshad, Hafiz Muhammad, Bharmal, Sheila, Duman, Deniz Guney, Liangpunsakul, Suthat, Turner, Brian G., and Arshad, Hafiz Muhammad Sharjeel
- Abstract
Pancreatic cystic lesions can be benign, premalignant or malignant. The recent increase in detection and tremendous clinical variability of pancreatic cysts has presented a significant therapeutic challenge to physicians. Mucinous cystic neoplasms are of particular interest given their known malignant potential. This review article provides a brief but comprehensive review of premalignant pancreatic cystic lesions with advanced endoscopic ultrasound (EUS) management approaches. A comprehensive literature search was performed using PubMed, Cochrane, OVID and EMBASE databases. Preneoplastic pancreatic cystic lesions include mucinous cystadenoma and intraductal papillary mucinous neoplasm. The 2012 International Sendai Guidelines guide physicians in their management of pancreatic cystic lesions. Some of the advanced EUS management techniques include ethanol ablation, chemotherapeutic (paclitaxel) ablation, radiofrequency ablation and cryotherapy. In future, EUS-guided injections of drug-eluting beads and neodymium:yttrium aluminum agent laser ablation is predicted to be an integral part of EUS-guided management techniques. In summary, International Sendai Consensus Guidelines should be used to make a decision regarding management of pancreatic cystic lesions. Advanced EUS techniques are proving extremely beneficial in management, especially in those patients who are at high surgical risk. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
11. Synchronous appearance of gastrointestinal stromal tumor and neuroendocrine tumor in stomach: Review of the literature and management strategies
- Author
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DUMAN, Deniz Guney, primary, EREN, Funda, additional, YEGIN, Ender Gunes, additional, IKINCI, Aygun, additional, and YEGEN, Cumhur, additional
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- 2012
- Full Text
- View/download PDF
12. Extraorbital Sebaceous Carcinoma With Rapidly Developing Visceral Metastases
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Duman, Deniz Guney, primary, Ceyhan, Berrin Bagci, additional, Celikel, Turgay, additional, Ahiskali, Rengin, additional, and Duman, Dursun, additional
- Published
- 2003
- Full Text
- View/download PDF
13. Effects of sitagliptin in diabetic patients with nonalcoholic steatohepatitis.
- Author
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Yilmaz, Yusuf, Yonal, Oya, Deyneli, Oguzhan, Celikel, Cigdem Ataizi, Kalayci, Cem, and Duman, Deniz Guney
- Published
- 2012
14. Modulatory effect of rat bone marrow mesenchymal stem cells on immunological parameters of common bile duct ligated rats.
- Author
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Zibandeh, Noushin, Genc, Deniz, Akkoc, Tunc, Duman, Deniz Guney, Banzragch, Munkhtsetseg, Ugurlu, Mustafa Umit, Akkoc, Tolga, and Ataizi Celikel, Cigdem
- Subjects
LIVER regeneration ,REGENERATIVE medicine ,CELLULAR therapy ,BONE marrow ,STEM cells ,RATS - Abstract
Introduction: Mammalian liver has highly regenerative capacity following resection or injury by restoring its original mass. However, in the endstage liver disorders, regeneration usually fails and orthotropic liver transplantation (OLT) seems to be the only curative approach. Cellular therapy is a promising approach that may preclude the need for OLT. Adult or embryonic hepatocytes and mesenchymal stem cells (MSCs) can be used for this purpose. Among them, MSCs are extrahepatic stem cells derived from bone marrow, adipose tissue, pancreatic epithelial progenitor cells, neural and umbilical cord blood-derived somatic stem cells have been shown to possess the potential to trans-differentiate into hepatic cells. Aim: To show the comparative, regenerative and curative effect of bone marrow MSCs on rats having hepatic fibrosis produced by common bile duct ligation (CBDL) model. Methods: Rats were divided into three groups; 1- CBDL rats that were given MSCs (CBDL+MSC), 2- CBDL rats that were given phosphate-buffered saline (PBS) (CBDL+PBS), 3- Healthy rats that were sham operated and given MSCs (Healthy+MSCs). Effect of MSC treatment were measured at three levels: morphological, phenotypical and functional. We analyzed the in vivo functional. Morphologically, MSCs were labeled with GFP to check the localization of stem cells and to get an idea for the regenerative capacity in the injured liver. Phenotypically, immunological studies were carried out to highlight the immune-regulatory effect of stem cells as to prevent apoptosis of hepatocytes, effects on the levels of regulatory T cells and pro-inflammatory T helper subsets such as Th1. Cytokine secretions from anti-CD2, anti- CD3 and anti-CD28 stimulated splenocytes (lymphocyte subtypes in spleen) were evaluated. Results: Histologically, liver fibrosis developed in CBDL rats while the entire group of healthy rats did not show any alteration in liver architecture. MSCs suppressed the rat splenocyte proliferation significantly more in CBDL+MSC compared with CBDL+PBS group (p<0,05). NK cells in peripheral blood increased significantly more in CBDL+MSC compared with CBDL+PBS (p<0.05). Peripheral CD4+ CD25+ ratio increased in CBDL+PBS compared with CBDL+MSC. MSCs suppressed the proinflammatory cytokine levels in CBDL+MSC. Discussion: Our findings suggest bone marrow derived MSCs may be effective in alleviating the hepatic injury by suppressing the spelonocyte proliferation, increasing the circulating peripheral NK cell population and CD4+CD25+ cells and by suppressing the proinflammatory cytokines in rats. Thus, MSC injection treatment may appear promising in liver injury and future clinical therapies are warranted. [ABSTRACT FROM AUTHOR]
- Published
- 2016
15. Myeloperoxidase and calprotectin; Any role as non-invasive markers for the prediction of ınflammation and fibrosis in non-alcoholic steatohepatitis?
- Author
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Cigdem Ataizi Celikel, Coskun Ozer Demirtas, Ercan Biçakci, Goncagül Haklar, Deniz Güney Duman, Bicakci, Ercan, Demirtas, Coskun Ozer, Celikel, Cigdem, Haklar, Goncagul, and Duman, Deniz Guney
- Subjects
Adult ,Liver Cirrhosis ,Male ,medicine.medical_specialty ,Inflammation ,030204 cardiovascular system & hematology ,DISEASE-ACTIVITY ,Severity of Illness Index ,digestive system ,Gastroenterology ,03 medical and health sciences ,fluids and secretions ,0302 clinical medicine ,Fibrosis ,Internal medicine ,medicine ,Humans ,oxidative stress ,Prospective Studies ,Peroxidase ,RISK ,biology ,business.industry ,fibrosis ,Fatty liver ,Non invasive ,Non alcoholic ,Middle Aged ,medicine.disease ,digestive system diseases ,Liver ,inflammation ,Case-Control Studies ,OBESITY ,Myeloperoxidase ,biology.protein ,Female ,Original Article ,enzyme-linked immunosorbent assay ,medicine.symptom ,Calprotectin ,Steatohepatitis ,business ,Leukocyte L1 Antigen Complex ,Biomarkers ,SYSTEM ,Non-alcoholic fatty liver disease ,030215 immunology - Abstract
Background/Aims: Specific serum markers reflecting hepatic inflammation and fibrosis are required to tailor the treatment strategies in non-alcoholic steatohepatitis (NASH). We aimed to investigate the roles of myeloperoxidase (MPO) and calprotectin in predicting the hepatic inflammation status and disease severity in NASH. Materials and Methods: A total of 48 patients with biopsy-proven NASH and 25 healthy volunteers with normal weight were prospectively enroiled Serum MPO and calprotectin levels were compared between the NASH and control groups. Hepatic MPO and calprotectin expressions were compared in terms of histologic non-alcoholic fatty liver disease activity scores (NAS) (low NAS [5]) and fibrosis stage (insignificant [F0-1]/significant [F2-4]). Results: Serum MPO and calprotectin levels were not significantly different between the NASH and control groups. In the subgroup analysis, hepatic MPG expression was significantly increased in patients with NASH with significant fibrosis than in those with insignificant fibrosis (F2-4: 7.04 +/- 3.61 vs. F0-1: 4.83 +/- 2.42, p=0.01). We found no difference between the groups with low and high NAS with regard to serum MPG and calprotectin levels and hepatic MPG and calprotectin expressions. Conclusion: This study demonstrated that hepatic MPG expression can reflect advanced fibrosis in NASH. However, when serum MPO and calprotectin levels were evaluated as potential serum markers, both did not associate with hepatic inflammation status and fibrosis stage in NASH. Therefore, our study results preclude their use as serum markers for hepatic inflammation in NASH.
- Published
- 2020
- Full Text
- View/download PDF
16. A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG
- Author
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Ayberk Türkyılmaz, Coskun Ozer Demirtas, Ali Kemal Çetin, Deniz Güney Duman, Pinar Ata, Demirtas, Coskun Ozer, Ata, Pinar, Cetin, Ali, Turkyilmaz, Ayberk, and Duman, Deniz Guney
- Subjects
Male ,Oncology ,endocrine system ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Turkish population ,Turkey ,endocrine system diseases ,frame-shift mutation ,pancreatic neuroendocrine tumor ,Internal medicine ,Humans ,Medicine ,Outpatient clinic ,Genetic Predisposition to Disease ,MEN1 ,Genetic Testing ,Frameshift Mutation ,Multiple endocrine neoplasia ,Index case ,business.industry ,Pituitary tumors ,Gastroenterology ,Exons ,Middle Aged ,medicine.disease ,TUMORS ,Pedigree ,Phenotype ,Multiple endocrine neoplasia type 1 ,MEN1 Gene Mutation ,Original Article ,endocrine gland neoplasms ,business ,Primary hyperparathyroidism - Abstract
BACKGROUND/AIMS: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by tumors arising from endocrine glands with no specific genotype-phenotype correlation. Here, we report the largest Turkish kindred with MEN1 syndrome which inherited a scarce MEN1 mutation gene. MATERIALS AND METHODS: A 64-year-old man, referred to our gastroenterology outpatient clinic for evaluation of a pancreatic mass lesion, was diagnosed with MEN1 syndrome after endoscopic ultrasound-guided sampling of the mass revealed pancreatic neuroendocrine tumor (pNET) and accompanying primary hyperparathyroidism (PHPT) and pituitary tumor. Genetic analysis by whole gene Sanger sequencing of the MEN1 gene identified a frame-shift mutation in exon 10 (c.1680_1683delTGAG). All the relatives of the index case were proposed for clinical and genetic evaluation for MEN1 syndrome. RESULTS: Of the 25 relatives of the index case, 17 were diagnosed with the MEN1 syndrome. Eighteen members among all relatives consented to genetic analysis, and 11 had the same mutation as the index case. All the mutation positive members had MEN1, while none of mutation-negative subjects had any sign of MEN1 syndrome. The frequencies of PHPT, pNET, and pituitary tumors in this kindred were 94.1% (16/17), 29.4% (5/17), and 29.4% (5/17) respectively. CONCLUSION: We report a rare MEN1 gene mutation which has been descibed in a single sporadic patient earlier. It was inherited by at least three generations of a large family, proving the strong dominant effect of the MEN1 phenotype. Further research may be conducted to clarify potential candidacy of this mutation as a hotspot for MEN1 patients, especially in the Turkish population.
- Published
- 2020
17. Advanced Endoscopic Ultrasound Management Techniques for Preneoplastic Pancreatic Cystic Lesions
- Author
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Brian G. Turner, Hafiz Muhammad Sharjeel Arshad, Sheila Bharmal, Deniz Güney Duman, Suthat Liangpunsakul, Arshad, Hafiz Muhammad Sharjeel, Bharmal, Sheila, Duman, Deniz Guney, Liangpunsakul, Suthat, and Turner, Brian G.
- Subjects
Endoscopic ultrasound ,Pathology ,medicine.medical_specialty ,Radiofrequency ablation ,medicine.medical_treatment ,Antineoplastic Agents ,Cryotherapy ,Review ,ETHANOL-LAVAGE ,General Biochemistry, Genetics and Molecular Biology ,Endosonography ,law.invention ,03 medical and health sciences ,ULTRASONOGRAPHY ,0302 clinical medicine ,law ,SINGLE INSTITUTION ,medicine ,Humans ,PAPILLARY MUCINOUS NEOPLASMS ,Mucinous cystadenoma ,medicine.diagnostic_test ,Intraductal papillary mucinous neoplasm ,business.industry ,Pancreatic Diseases ,Endoscopy ,Pancreatic Carcinoma ,General Medicine ,medicine.disease ,CANCER ,TUMORS ,Review article ,Pancreatic Neoplasms ,SCLEROTHERAPY ,030220 oncology & carcinogenesis ,TRIAL ,030211 gastroenterology & hepatology ,Radiology ,Pancreatic Cyst ,GUIDED RADIOFREQUENCY ABLATION ,DIFFERENTIAL-DIAGNOSIS ,Pancreatic cysts ,business ,Precancerous Conditions - Abstract
Pancreatic cystic lesions can be benign, premalignant or malignant. The recent increase in detection and tremendous clinical variability of pancreatic cysts has presented a significant therapeutic challenge to physicians. Mucinous cystic neoplasms are of particular interest given their known malignant potential. This review article provides a brief but comprehensive review of premalignant pancreatic cystic lesions with advanced endoscopic ultrasound (EUS) management approaches. A comprehensive literature search was performed using PubMed, Cochrane, OVID and EMBASE databases. Preneoplastic pancreatic cystic lesions include mucinous cystadenoma and intraductal papillary mucinous neoplasm. The 2012 International Sendai Guidelines guide physicians in their management of pancreatic cystic lesions. Some of the advanced EUS management techniques include ethanol ablation, chemotherapeutic (paclitaxel) ablation, radiofrequency ablation and cryotherapy. In future, EUS-guided injections of drug-eluting beads and neodymium:yttrium aluminum agent laser ablation is predicted to be an integral part of EUS-guided management techniques. In summary, International Sendai Consensus Guidelines should be used to make a decision regarding management of pancreatic cystic lesions. Advanced EUS techniques are proving extremely beneficial in management, especially in those patients who are at high surgical risk.
- Published
- 2017
- Full Text
- View/download PDF
18. Small EUS-suspected gastrointestinal stromal tumors of the stomach: An overview for the current state of management
- Author
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Ender Gunes Yegin, Deniz Güney Duman, Yegin, Ender Gunes, and Duman, Deniz Guney
- Subjects
medicine.medical_specialty ,Pathology ,Stromal cell ,Gastrointestinal stromal tumor (GIST) ,ULTRASOUND ELASTOGRAPHY ,Endoscopic ultrasonography ,Review Article ,Gene mutation ,Gastroenterology ,CELL TUMORS ,surgery ,03 medical and health sciences ,symbols.namesake ,0302 clinical medicine ,Internal medicine ,OF-FUNCTION MUTATIONS ,medicine ,Radiology, Nuclear Medicine and imaging ,neoplasms ,FINE-NEEDLE-ASPIRATION ,Hepatology ,GiST ,business.industry ,Stomach ,GASTRIC SUBEPITHELIAL TUMORS ,digestive system diseases ,Interstitial cell of Cajal ,small hypoechoic muscularis propria (MP) lesion ,medicine.anatomical_structure ,ENDOSCOPIC SUBMUCOSAL DISSECTION ,030220 oncology & carcinogenesis ,symbols ,surveillance ,030211 gastroenterology & hepatology ,CLINICAL-PRACTICE GUIDELINES ,MUSCULARIS PROPRIA LAYER ,DIFFERENTIAL-DIAGNOSIS ,business ,FOLLOW-UP - Abstract
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors found in the gastrointestinal (GI) tract, with the stomach being the most common site. They represent a distinct group of GI tumors originating from the interstitial cells of Cajal and are characterized by gain-of-function mutations of KIT. KIT oncoprotein serves as both diagnostic and therapeutic targets. Prognosis is related to size, mitotic activity, and site of the tumor. Asymptomatic, small endoscopic ultrasonography (EUS)-suspected GISTs are increasingly encountered with the wide availability of endoscopic/endosonographic examination. The majority of small GISTs are biologically indolent, albeit possibly harboring c-KIT gene mutations. An ongoing controversy exists regarding the management and surveillance policy for small gastric GISTs. A number of reports on the management of GISTs have been published, not confidently addressing the issue of gastric GISTs of small size. This work provides an overview on the current state of management considerations, specifically focusing on small EUS-suspected gastric GISTs, which are increasingly encountered by clinicians.
- Published
- 2016
19. A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG.
- Author
-
Demirtaş CÖ, Ata P, Çetin A, Türkyılmaz A, and Duman DG
- Subjects
- Exons, Genetic Testing, Humans, Male, Middle Aged, Pedigree, Phenotype, Turkey, Frameshift Mutation genetics, Genetic Predisposition to Disease genetics, Multiple Endocrine Neoplasia Type 1 genetics
- Abstract
Background and Aims: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by tumors arising from endocrine glands with no specific genotype-phenotype correlation. Herein, we report the largest Turkish kindred with MEN1 inherited a scarce MEN1 mutation gene., Materials and Methods: Sixty-four year-old man, referred to our gastroenterology outpatient clinic for evaluation of pancreatic mass lesion, was diagnosed with MEN1-syndrome after endoscopic ultrasound guided sampling of the mass revealing pancreatic neuroendocrine tumor (pNET), and accompanying primary hyperparathyroidism (PHPT) and pituitary tumor. Genetic analysis by whole gene Sanger sequencing of MEN1 gene identified a frame-shift mutation in exon 10 (c.1680_1683delTGAG). All the relatives of the index case were proposed for clinical and genetic evaluation for MEN1-syndrome., Results: Of the 25 relatives of the index case, 17 were diagnosed MEN1-syndrome. Eighteen members among all relatives consented to genetic analysis and 11 had the same mutation as the index case. All the mutation positive members had MEN1, while none of mutation negative subjects had any sign of MEN1-syndrome. The frequencies of PHPT, pNET and pituitary tumors in this kindred were 94.1% (16/17), 29.4% (5/17) and 29.4% (5/17) respectively., Conclusion: We report rare MEN1 gene mutation which was descibed in a single sporadic patient before. It inherited in at least three generations of a large family, which has proven strong dominant effect on MEN1 phenotype. Further researches may be conducted to clarify potential candidacy of this mutation, as a hotspot for MEN1 patients, especially in Turkish population.
- Published
- 2020
- Full Text
- View/download PDF
20. Small EUS-suspected gastrointestinal stromal tumors of the stomach: An overview for the current state of management.
- Author
-
Yegin EG and Duman DG
- Abstract
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors found in the gastrointestinal (GI) tract, with the stomach being the most common site. They represent a distinct group of GI tumors originating from the interstitial cells of Cajal and are characterized by gain-of-function mutations of KIT. KIT oncoprotein serves as both diagnostic and therapeutic targets. Prognosis is related to size, mitotic activity, and site of the tumor. Asymptomatic, small endoscopic ultrasonography (EUS)-suspected GISTs are increasingly encountered with the wide availability of endoscopic/endosonographic examination. The majority of small GISTs are biologically indolent, albeit possibly harboring c-KIT gene mutations. An ongoing controversy exists regarding the management and surveillance policy for small gastric GISTs. A number of reports on the management of GISTs have been published, not confidently addressing the issue of gastric GISTs of small size. This work provides an overview on the current state of management considerations, specifically focusing on small EUS-suspected gastric GISTs, which are increasingly encountered by clinicians.
- Published
- 2016
- Full Text
- View/download PDF
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