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Gastrointestinal stromal tumor

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https://www.readbyqxmd.com/read/28324028/a-duodenal-sdh-deficient-gastrointestinal-stromal-tumor-in-a-patient-with-a-germline-sdhb-mutation
#1
M S Elston, S Sehgal, M Dray, E Phillips, J V Conaglen, R J Clifton-Bligh, A J Gill
Context: Gastrointestinal Stromal Tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract arising from the interstitial cells of Cajal. Succinate dehydrogenase (SDH) deficient GISTs are a unique class of GIST defined by: loss of immunohistochemical expression of SDHB indicating dysfunction of the mitochondrial complex 2, lack of driver mutations in KIT and PDGFRA, and a distinctive morphology and natural history. To date, all reported SDH-deficient GISTs have arisen in the stomach...
March 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28317407/using-molecular-diagnostic-testing-to-personalize-the-treatment-of-patients-with-gastrointestinal-stromal-tumors
#2
Amber E Bannon, Lillian R Klug, Christopher L Corless, Michael C Heinrich
The diagnosis and treatment of gastrointestinal stromal tumor (GIST) has emerged as a paradigm for modern cancer treatment ("precision medicine"), as it highlights the importance of matching molecular defects with specific therapies. Over the past two decades, the molecular classification and diagnostic work up of GIST has been radically transformed, accompanied by the development of molecular therapies for specific subgroups of GIST. This review summarizes the developments in the field of molecular diagnosis of GIST, particularly as they relate to optimizing medical therapy...
March 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28316152/-long-term-follow-up-to-identify-the-rectal-potentially-malignant-nodules-in-female-by-digital-rectal-examination
#3
S S Wang, J Y Zhou, Z J Wang, S R Su, J Sun, R G W Sharen
Objective: To investigate the characteristics of the rectal potentially malignant nodules in female by digital rectal examination (DRE). Methods: Retrospectively, we collected the medical information and follow-up of rectal nodules cases diagnosed as benign by DRE during the health check-up in our hospital from Jan 2002 to Dec 2015. All nodules were recorded position, size, shape, hardness and mobility. Statistical analysis was performed to select the potentially malignant cases of postoperative pathological diagnosis and disappeared nodules followed up by DRE...
March 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28315715/sab-mediates-mitochondrial-dysfunction-involved-in-imatinib-mesylate-induced-cardiotoxicity
#4
Tara P Chambers, Luis Santiesteban, David Gomez, Jeremy W Chambers
Imatinib mesylate is an effective treatment for chronic myelogenous leukemia and gastrointestinal stromal tumors. Although imatinib mesylate is highly tolerable, it has been implicated in severe congestive heart failure in mouse models and patients. A hallmark of imatinib mesylate-induced cardiotoxicity is mitochondrial dysfunction. The mitochondrial scaffold Sab has been implicated in facilitating signaling responsible for mitochondrial dysfunction in a c-Jun N-terminal Kinase (JNK)-dependent manner. We examined the impact of Sab-mediated signaling on imatinib mesylate cardiotoxicity in H9c2 rat cardiomyocyte-like cells...
March 15, 2017: Toxicology
https://www.readbyqxmd.com/read/28314314/familial-gastrointestinal-stromal-tumor-with-germline-kit-mutations-accompanying-hereditary-breast-and-ovarian-cancer-syndrome
#5
Yuki Sekido, Seiji Ohigashi, Tsuyoshi Takahashi, Naoki Hayashi, Koyu Suzuki, Seiichi Hirota
BACKGROUND: Familial gastrointestinal stromal tumor (GIST) is a rare disease with germline mutations in the c-kit gene (KIT) or platelet-derived growth factor receptor alpha gene (PDGFRA). We had encountered multiple GISTs in the stomach and small intestine during a screening of ovarian cancer for a woman with hereditary breast and ovarian cancer syndrome (HBOC) with breast cancer susceptibility gene II (BRCA2) mutations. The aim of this study was to examine this case in detail. CASE REPORT: A 65-year-old woman diagnosed with HBOC harboring BRCA2 mutations was found to have multiple tumors in the stomach and small intestine by abdominal screening...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28302530/regorafenib-overcomes-chemotherapeutic-multidrug-resistance-mediated-by-abcb1-transporter-in-colorectal-cancer-in-vitro-and-in-vivo-study
#6
Yi-Jun Wang, Yun-Kai Zhang, Guan-Nan Zhang, Sweilem B Al Rihani, Meng-Ning Wei, Pranav Gupta, Xiao-Yu Zhang, Suneet Shukla, Suresh V Ambudkar, Amal Kaddoumi, Zhi Shi, Zhe-Sheng Chen
Chemotherapeutic multidrug resistance (MDR) is a significant challenge to overcome in clinic practice. Several mechanisms contribute to MDR, one of which is the augmented drug efflux induced by the upregulation of ABCB1 in cancer cells. Regorafenib, a multikinase inhibitor targeting the RAS/RAF/MEK/ERK pathway, was approved by the FDA to treat metastatic colorectal cancer and gastrointestinal stromal tumors. We investigated whether and how regorafenib overcame MDR mediated by ABCB1. The results showed that regorafenib reversed the ABCB1-mediated MDR and increased the accumulation of [(3)H]-paclitaxel in ABCB1-overexpressing cells by suppressing efflux activity of ABCB1, but not altering expression level and localization of ABCB1...
March 13, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28296970/correction-the-therapeutic-response-of-gastrointestinal-stromal-tumors-to-imatinib-treatment-assessed-by-intravoxel-incoherent-motion-diffusion-weighted-magnetic-resonance-imaging-with-histopathological-correlation
#7
https://www.readbyqxmd.com/read/28293832/the-mechanistic-role-of-the-calcium-activated-chloride-channel-ano1-in-tumor-growth-and-signaling
#8
Anke Bill, Larry Alex Gaither
Multiple studies have described the high expression and amplification of Anoctamin 1 (ANO1) in various cancers, including, but not limited to breast cancer, head and neck cancer, gastrointestinal stromal tumors and glioblastoma. ANO1 has been demonstrated to be critical for tumor growth in breast and head and neck cancers through its regulation of EGFR signaling and pathway modulators like MAPK and protein kinase B. However, the discovery of ANO1 as a calcium activated chloride channel came as a surprise to the field and has given rise to many questions...
March 15, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28288693/uterine-epithelioid-leiomyosarcoma-with-c-kit-expression-and-ywhae-gene-rearrangement-a-case-report-of-a-diagnostic-pitfall-of-uterine-sarcoma
#9
Terufumi Kubo, Shintaro Sugita, Ryuichi Wada, Noriaki Kikuchi, Masahiro Iwasaki, Yumika Ito, Taro Sugawara, Hiromi Fujita, Makoto Emori, Ryoichi Tanaka, Hiroshi Hirano, Tsuyoshi Saito, Tadashi Hasegawa
BACKGROUND: Uterine sarcoma is a rare tumor that is often difficult to classify based on morphological and immunohistochemical analysis alone. Limited access to molecular biological analysis in routine practice would hinder making a definitive diagnosis. CASE PRESENTATION: In this report, we describe a case of a mesenchymal tumor arising from the uterine cervix in a 52-year-old woman. From microscopic morphology of the resected specimen, epithelioid leiomyosarcoma, high-grade endometrial stromal sarcoma, or uterine gastrointestinal stromal tumor (GIST) were considered as differential diagnoses...
March 14, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28288036/gist-manifesting-as-a-retroperitoneal-tumor-clinicopathologic-immunohistochemical-and-molecular-genetic-study-of-112-cases
#10
Markku Miettinen, Anna Felisiak-Golabek, Zengfeng Wang, Shingo Inaguma, Jerzy Lasota
Most gastrointestinal stromal tumors (GISTs) occur in the tubular gastrointestinal (GI) tract, but some present apparently outside the GI tract. In this study, we analyzed 112 GISTs located in the retroperitoneum. These tumors occurred in 55 women and 57 men with a median age of 65 years (range: 21 to 89 y). On the basis of clinically or histologically detected connections to GI tract, 15 tumors were considered likely of gastric, 9 duodenal, and 13 of small intestinal origin. The remaining cases were categorized by location as peripancreatic (n=25), pelvic (n=11), mesenteric (n=4), and of unspecified/miscellaneous sites (n=35)...
March 10, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28287938/soft-tissue-sarcomas-of-the-abdomen-and-pelvis-radiologic-pathologic-features-part-1-common-sarcomas-from-the-radiologic-pathology-archives
#11
Angela D Levy, Maria A Manning, Waddah B Al-Refaie, Markku M Miettinen
Soft-tissue sarcomas are a diverse group of rare mesenchymal malignancies that can arise at any location in the body and affect all age groups. These sarcomas are most common in the extremities, trunk wall, retroperitoneum, and head and neck. In the adult population, soft-tissue sarcomas arising in the abdomen and pelvis are often large masses at the time of diagnosis because they are usually clinically silent or cause vague or mild symptoms until they invade or compress vital organs. In contrast, soft-tissue sarcomas arising from the abdominal wall come to clinical attention earlier in the course of disease because they cause a palpable mass, abdominal wall deformity, or pain that is more clinically apparent...
March 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28282462/histopathology-and-enhanced-detection-of-tumor-invasion-of-peritoneal-membranes
#12
Jey-Hsin Chen, Melissa Borges
Tumor invasion of the peritoneal membrane may have an adverse prognostic significance, but its histopathologic features can be diagnostically difficult to recognize. We observed that local peritoneal injury associated with tumor invasion is characterized by activation and proliferation of serosal stromal cells that express cytokeratin, a characteristic property of injured serosal membranes that may have diagnostic utility. To explore this, we examined 120 primary tumors of the gastrointestinal tract and pancreaticobiliary system using cytokeratin and elastic stains to assess for tumor invasion of peritoneal membranes...
2017: PloS One
https://www.readbyqxmd.com/read/28280629/is-surgery-mandatory-in-locally-advanced-gastrointestinal-stromal-tumors-after-imatinib-a-case-report-and-literature-review
#13
Sabrina Rossi, Teresa Congedo, Riccardo Ricci, Maurizio Martini, Vincenzo Di Noia, Carmela Di Dio, Michela Quirino, Carlo Barone, Alessandra Cassano
Oesophageal gastrointestinal stromal tumors (GISTs) are rare neoplasms (about 2% of all GISTs); radical surgery is the standard treatment of all GISTs but in case of locally advanced and unresectable disease no clear treatment guide lines are available. Studies including neoadjuvant imatinib mesylate (IM) are relatively recent, includes small sample size of heterogeneous patients and do not report a standardized duration of neoadjuvant treatment. The main question still remains whether surgery after neoadjuvant IM gives a survival benefit in locally advanced disease...
February 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28276827/direct-endoscopic-biopsy-for-subepithelial-tumor-larger-than-20%C3%A2-mm-after-removal-of-overlying-mucosa
#14
Cheol Woong Choi, Dae Hwan Kang, Hyung Wook Kim, Su Bum Park, Su Jin Kim, Sun Hwi Hwang, Si Hak Lee
OBJECTIVE: An accurate diagnosis of a subepithelial tumor (SET) using endoscopic ultrasound (EUS) without tissue acquisition is difficult. Treatment plan for a SET may be influenced by endoscopic tissue diagnosis. We aimed to clarify the clinical outcomes of direct endoscopic biopsy for SET after removal of the overlying mucosa. METHODS: We evaluated the medical records of 15 patients. All patients underwent direct endoscopic biopsy for a SET larger than 20 mm (involving proper muscle layer) after removal of the overlying mucosa...
February 28, 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28275959/clinicopathological-and-prognostic-analysis-of-primary-gastrointestinal-stromal-tumor-presenting-with-gastrointestinal-bleeding-a-10-year-retrospective-study
#15
Zhijie Yin, Jinbo Gao, Weizhen Liu, Cheng Huang, Xiaoming Shuai, Guobin Wang, Kaixiong Tao, Peng Zhang
OBJECTIVES: The objectives of this paper were to investigate the clinicopathological characteristics and prognostic factors of GI-bleeding GIST patients and explore whether GI bleeding is a risk factor for GIST relapse. METHODS: Primary GIST patients with initial symptoms of GI bleeding or no GI bleeding were retrospectively studied. RESULTS: Up to 178 GI-bleeding GIST patients including 108 (60.7%) males and 70 (39.3%) females were evaluated for the clinicopathological characteristics...
March 8, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28272683/inflammatory-myofibroblastic-tumor-of-the-stomach-presenting-as-an-exophytic-mass-a-diagnostic-dilemma
#16
Meena Jadhav, Rekha Harvi, Rashmi Patil, Shreekant Kittur
Inflammatory myofibroblastic tumor is an uncommon soft tissue neoplasm of uncertain biologic behavior, and rarely reported in the stomach. An eighteen-year-old male presented with a mass in the epigastrium of three-month duration. Clinical and radiological examination suggested a gastrointestinal stromal tumor or a leiomyoma in the lesser curvature of the stomach. On the basis of histomorphological features and immunohistochemical analysis the diagnosis of inflammatory myofibroblastic tumor in the lesser curvature of the stomach was made...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28267385/clinical-development-landscape-in-gist-from-novel-agents-that-target-accessory-pathways-to-revisiting-non-targeted-therapies
#17
Kamalesh K Sankhala
Activating mutations in the genes encoding the tyrosine receptor kinases KIT and platelet-derived growth factor receptor occur in 85% to 90% of patients with gastrointestinal stromal tumors (GIST). Although imatinib and other tyrosine kinase inhibitors have revolutionized the treatment of GIST, most patients progress within a few years. Areas covered: Monoclonal antibodies and small-molecule inhibitors targeting specific signaling pathways or proteins associated with resistance to existing treatments are being explored as alternative treatment approaches for GIST...
March 7, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28261601/primary-hepatic-gastrointestinal-stromal-tumor-presented-with-rupture
#18
Hon Ting Lok, Ching Ning Chong, Anthony Wing Hung Chan, Kwong Wai Fong, Yue Sun Cheung, John Wong, Kit Fai Lee, Paul Bo Shan Lai
No abstract text is available yet for this article.
February 2017: Hepatobiliary Surgery and Nutrition
https://www.readbyqxmd.com/read/28259173/subepithelial-rectal-gastrointestinal-stromal-tumor-the-use-of-endoscopic-ultrasound-guided-fine-needle-aspiration-to-establish-a-definitive-cytological-diagnosis-a-case-report
#19
Vitor Ottoboni Brunaldi, Martin Coronel, Danielle Azevedo Chacon, Eduardo Turiani Hourneaux De Moura, Sérgio E Matuguma, Eduardo Guimarães Hourneaux De Moura, Diogo Turiani Hourneaux De Moura
BACKGROUND: Gastrointestinal stromal tumors are the most common mesenchymal neoplasms affecting the gastrointestinal tract. The stomach is the most common location to be affected, and the rectum one of the rarest, but the whole gastrointestinal tract remains susceptible. Gastrointestinal stromal tumors account for only 0.1% of rectal tumors. Currently, endoscopic ultrasound plays an essential role in the diagnostic process of gastrointestinal stromal tumors, especially when the affected sites have a worse outcome and higher morbidity rates...
March 5, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28258440/comprehensive-characterization-of-genes-associated-with-the-tp53-signal-transduction-pathway-in-various-tumors
#20
Shumpei Ohnami, Keiichi Ohshima, Takeshi Nagashima, Kenichi Urakami, Yuji Shimoda, Junko Saito, Akane Naruoka, Keiichi Hatakeyama, Tohru Mochizuki, Masakuni Serizawa, Sumiko Ohnami, Masatoshi Kusuhara, Ken Yamaguchi
The TP53 signal transduction pathway is an attractive target for cancer treatments. In this study, we conducted a comprehensive molecular evaluation of 907 patients with cancer in Japan to identify genomic alterations in the TP53 pathway. TP53 mutations were frequently detected in many cancers, except melanoma, thymic tumors, gastrointestinal stromal tumors, and renal cancers. The frequencies of non-synonymous single nucleotide variants (SNVs) in the TP53 family members TP63 and TP73 were relatively low, although genes with increased frequencies of SNVs were as follows: PTEN (11...
March 3, 2017: Molecular and Cellular Biochemistry
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