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C-kit Negative GIST

Midori Toda-Ishii, Keisuke Akaike, Yoshiyuki Suehara, Kenta Mukaihara, Daisuke Kubota, Shinji Kohsaka, Taketo Okubo, Keiko Mitani, Kaoru Mogushi, Tatsuya Takagi, Kazuo Kaneko, Takashi Yao, Tsuyoshi Saito
Recently, several studies have reported that dysfunctions in protein phosphatase 2A (PP2A) caused by alterations in protein phosphatase 2 regulatory subunit A, alpha (PPP2R1A) are responsible for tumorigenesis and tumor progression in several types of cancers. The impact of PPP2R1A mutations remains unknown in gastrointestinal stromal tumors (GISTs), although mutations in KIT and PDGFRA, which result in constitutive activation of the receptor tyrosine kinase pathway, are important in GIST tumorigenesis. In this study, we performed mutation analysis of PPP2R1A to examine the frequency of PPP2R1A mutations and their clinicopathological correlation in 94 GIST cases...
July 29, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Takaharu Kato, Hiroshi Noda, Iku Abe, Sergio Alonso, Nobu Yokoyama, Toshiki Rikiyama
Mesenteric leiomyosarcoma is a rare disease with poor prognosis. Previously, mesenteric leiomyosarcoma was not differentiated from gastrointestinal stromal tumor (GIST), which is the most common mesenchymal tumor of the gastrointestinal tract, and several cases of GIST may have been misclassified as mesenteric leiomyosarcoma. Thus, the actual clinicopathological characteristics of mesenteric leiomyosarcomas remain unclear. We herein describe a case of leiomyosarcoma arising in the descending mesocolon in a patient who developed metachronous liver metastasis...
July 2016: Molecular and Clinical Oncology
Runjan Chetty, Stefano Serra
Gastrointestinal stromal tumours (GISTs) are a commonly encountered tumour in routine practice. In the main, the morphology of spindle, epithelioid or mixed are well recognised along with mutations of c-kit However, there are other genes that are mutated resulting in characteristic clinicopathological correlations. GISTs harbouring platelet-derived growth factor receptor α (PDGFRα) gene mutations lead to a typical morphological constellation of findings: gastric and omental location, gross tumour that is cystic and haemorrhagic, composed of epithelioid, plasmacytoid cells exhibiting pleomorphism, low mitotic count and containing characteristic giant cells with peripherally placed nuclei...
September 2016: Journal of Clinical Pathology
Salma Kamoun, Issam M'sakni, Nada Mansouri, Basma Laabidi, Abdeljabbar Helali, Ahmed Nabil Gordah, Fathi Bougrine, Ammar Bouziani
BACKGROUND: Gastrointestinal stromal tumors - commonly called GISTs - are rare; yet, they represent an important type of mensenchymal tumors arising within the gastrointestinal tract. The acronym GIST was introduced in 1998 to define a well established pathological entity which bears a highly specific marker called KIT (CD117). Scientific interest for these tumors in recent years is mainly due to the progress in identification by immunohistochemistry and the advent of targeted molecular therapy...
December 2015: La Tunisie Médicale
Enrico Fiori, Daniele Ferraro, Alessandro De Cesare, Giovanni Leone, Cecilia Barmann, Alberto Schillaci, Francesco Borrini
UNLABELLED: In this article, we reviewed the case of a patient who was object, in 1999, of a published case report of schwannoma of the jejunal wall. Recently, the patient has been referred to our institution for a mass of the stomach identified by upper gastrointestinal endoscopy. The patient underwent a wedge resection of the stomach and a histopathological diagnosis of GIST of the stomach, based on a positive immunohistochemical staining of c-kit and CD34, was made. In consideration of these findings, we performed immunohistochemistry for c-kit and for CD34 on the previous lesion of the jejunal wall, which resulted strongly positive for CD117 and negative for CD34...
2016: Annali Italiani di Chirurgia
Anna Caterina Milanetto, Valbona Liço, Stella Blandamura, Claudio Pasquali
BACKGROUND: First described by Ross in 1951, primary pancreatic leiomyosarcoma is a rare mesenchymal tumour of the pancreas, with nonspecific clinical and radiological features and a poor prognosis, if unresectable. CASE REPORT: A 60-year-old woman presented with abdominal pain. Magnetic resonance imaging (MRI) and computed tomography (CT) scan detected a dishomogeneous egg-shaped 8-cm mass, arising from the pancreatic head, with duodenal compression, without dilation of the Wirsung duct...
December 2015: Surgical Case Reports
M Vij, V Agrawal, A Kumar, R Pandey
BACKGROUND AND OBJECTIVES: Gastrointestinal stromal tumor (GIST) is mesenchymal neoplasms of the gastrointestinal tract, which express CD117, a c-kit proto-oncogene protein and show gain of function mutation of c-kit gene. Apart from the presence of metastasis, the criteria to differentiate benign and malignant GISTs are not well-defined. Although a variety of prognostic factors have been investigated, no method has yet proven sufficient to enable reliable determination of malignancy in all cases...
July 2015: Indian Journal of Cancer
Ho Seok Seo, Ji Yeon Hyeon, Ok-Ran Shin, Han Hong Lee
C-kit-negative gastrointestinal stromal tumors (GISTs) are uncommon, and there have been few reports about the diagnosis and treatment of c-kit-negative GISTs in the stomach. We report the case of a patient who was diagnosed with a huge and atypical GIST in the stomach. The GIST was completely resected and finally diagnosed as c-kit-negative GIST based on immunohistochemical staining of tumor cells, which were negative for CD117 and CD34 and positive for Discovered on GIST-1 (DOG1). C-kit-negative GISTs could be treated by complete resection and/or imatinib, which is the same treatment for c-kit-positive GISTs...
December 2015: Journal of Gastric Cancer
Yuki Ozato, Ryohei Kawabata, Masato Yoshikawa, Chizu Kameda, Chikato Koga, Masahiro Murakami, Masaki Hirota, Shingo Noura, Masakazu Ikenaga, Junzo Shimizu, Hideaki Miwa, Junichi Hasegawa
The patient, a 76-year-old man, presented to his local doctor's clinic with complaints of fatigue and lightheadedness. Because blood test results indicated anemia, he was referred to our hospital. Upper gastrointestinal endoscopy indicated a type 2 tumor of approximately 5 cm at the top of the gastric corpus. Biopsy results indicated that the lesion was a poorly differentiated adenocarcinoma. Computed tomography showed multiple liver metastases and the patient was diagnosed with stage Ⅳ gastric cancer. After a blood transfusion, chemotherapy with S-1 was started...
November 2015: Gan to Kagaku Ryoho. Cancer & Chemotherapy
Chun-Wei Xu, Shan Lin, Wu-Long Wang, Wen-Bin Gao, Jin-Yan Lv, Jing-Shan Gao, Li-Ying Zhang, Yang Li, Lin Wang, Yu-Ping Zhang, Yu-Wang Tian
The aim of the present study was to investigate mutation status of the c-Kit gene (KIT) and PDGFRA in patients with a gastrointestinal stromal tumor (GIST). In total, 93 patients with a GIST were included in the study, in which polymerase chain reaction amplification and gene sequencing were used to detect the sequences of exons 9, 11, 13 and 17 in KIT and exons 12 and 18 in PDGFRA. KIT mutations were detected in 64 cases (68.82%), of which exon 11 mutations were detected in 56 cases (60.22%), exon 13 mutations were detected in three cases (3...
September 2015: Experimental and Therapeutic Medicine
Vincenzo Canzonieri, Daniela Gasparotto, Lara Alessandrini, Gianmaria Miolo, Elena Torrisi, Tiziana Perin, Paolo De Paoli, Roberta Maestro, Angela Buonadonna
After an initial benefit from tyrosine kinase inhibitors (TKI), most gastrointestinal stromal tumors (GISTs) eventually develop disease progression or secondary resistance. An altered tumor (immune)phenotype with anaplasia and morphological changes secondary to therapy have occasionally been described in the literature. We present a 52-year old patient, diagnosed with high risk, spindle-cell, GIST (CD117 positive, Pankeratin negative) in 2003, showing a c-Kit exon 11 mutation. After TKI therapy, he developed drug resistance and disease progression...
January 2016: Pathology, Research and Practice
Claudia Trombatore, Stefano Palmucci, Giuseppe Angelico, Enrico Vasquez, Giuseppe Petrillo, Stefano Puleo, Antonio Di Cataldo
Extragastrointestinal stromal tumors (EGISTs) are a rare subgroup of gastrointestinal stromal tumors (GISTs), arising from outside the walls of gastrointestinal tubular organs. We report a case of an EGIST of the lesser omentum that represented a diagnostic challenge. Due to its atypical radiologic findings, it was preoperatively mistaken for pedunculated hepatic hemangioma. Histopathologically, it showed epithelioid structure and c-kit negative, very uncommon for GIST. Only a few cases of EGISTs have been previously reported...
November 2015: Clinical Imaging
Shogo Tajima, Akihiko Ohata, Kenji Koda, Yasuhiko Maruyama
Activating mutations of platelet-derived growth factor receptor α (PDGFRA) are detected in a significant proportion of gastrointestinal stromal tumors (GISTs), in addition to the more frequent mutation in c-kit. GISTs with PDGFRA mutations have been found to have several characteristic morphological features, sometimes allowing to discriminate them from GISTs with c-kit mutations. Among these, epithelioid morphology in tumor cells and tumor-infiltrating mast cells are powerful predictors of PDGFRA mutations...
2015: International Journal of Clinical and Experimental Pathology
E Trajkovska, V Janevska, L Spasevska, V Janevski, J Zhivadinovik, G Petrushevska, B Dukova
INTRODUCTION: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the digestive tract. There is an increasing number of literature reports on synchronous occurrence of gastrointestinal stromal tumors and another malignancy of distinct etiology and evolution. The most reported cases include gastric synchronous occurrence of gastrointestinal stromal tumors and adenocarcinoma and gastric gastrointestinal stromal tumors and colonic adenocarcinoma. CASE REPORT: We present a case of a 77-old female, with synchronous cecal moderately differentiated adenocarcinoma in Stage IIA according to the TNM classification and ileal spindle cell type GIST with low malignant potential, positive for c-Kit, CD34, vimentin, Actin, and negative for S100...
2015: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
Uwe Wollina, Gesina Hansel, Felicitas Zimmermann, Jacqueline Schönlebe, Andreas Nowak
Merkel cell carcinoma (MCC) is a rare neuroendocrine tumor of the skin. Although its association with other malignancies is well known, an association with gastrointestinal stromal tumor (GIST) has yet not been described.We report about a 65-year-old female patient who presented with a hypervascularized subcutaneous tumor mass of her left calf. Resection of the primary tumor and histopathological investigations confirmed the diagnosis of MCC. The patient was treated by delayed Mohs surgery, and tumor-free margins were obtained...
May 2015: Wiener Klinische Wochenschrift
Diana Rodríguez-González, Luciano Delgado-Plasencia, Carmen Hernández-León, Esther Torres-Monzón, María Elisa Castro-Peraza, Josefina Cruz-Jurado, Alberto Bravo-Gutiérrez, Vicente Medina-Arana
INTRODUCTION: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. Numerous studies have reported the association between GIST and other neoplasms. OBJECTIVES: The aim of this study was to investigate the possible association between GIST and other tumors in a genetically isolated population. METHODS: A retrospective study was conducted of patients with GIST between 2002 and 2009 at our center...
October 2015: Gastroenterología y Hepatología
Brian P Rubin, Michael C Heinrich
Gastrointestinal stromal tumors (GISTs) were originally thought to harbor either KIT or platelet-derived growth factor receptor A (PDGFRA) mutations only. However, more recent discoveries have highlighted additional, less common oncogenic driver mutations including NF1, BRAF, and succinate dehydrogenase (SDH) mutations. Genotyping GISTs has become more important since not all genotypes respond equally to FDA-approved tyrosine kinase inhibitors. GIST is a paradigm for personalized cancer therapy. Recent studies demonstrate how immunohistochemistry can be used both to diagnose GIST and to screen for specific mutations...
September 2015: Seminars in Diagnostic Pathology
Yoshihiko Tashiro, Fumio Matsumoto, Keiko Iwama, Ai Shimazu, Sei Matsumori, Shigeo Nohara, Hiroyoshi Miura, Masahiko Takei, Koji Namekata, Masaru Takase, Motoi Okada, Hidenori Tsumura
Schwannomas of the colon are rare and difficult to diagnose preoperatively. We report a case of schwannoma of the ascending colon that was resected laparoscopically. A 64-year-old woman was referred to our hospital by her local clinic for further evaluation and management of a submucosal tumor of the ascending colon. A definitive preoperative diagnosis could not be reached despite examinations. Gastrointestinal stromal tumor, leiomyoma and lymphoma were the differential diagnoses. We performed a laparoscopic right hemicolectomy with D2 lymph node dissection...
January 2015: Case Reports in Gastroenterology
Kristof Nemeth, Christopher Williams, Majid Rashid, Mark Robinson, Ashraf Rasheed
INTRODUCTION: Gastrointestinal stromal tumours (GIST) account for only one percent of all gastrointestinal malignancies. PRESENTATION OF CASE: A 53 year old lady presented to the gastroenterology clinic with iron deficiency anaemia. Oesophagogastroduodenoscopy (OGD) and computed tomography (CT) demonstrated a non-obstructing 7cm submucosal oesophageal lesion. An oesophagectomy was performed and subsequent histology sections showed a well-circumscribed spindle cell tumour without any cellular atypia...
2015: International Journal of Surgery Case Reports
L Mao, J Chen, Z Liu, C-J Liu, M Tang, Y-D Qiu
We report a case of primary gastrointestinal stromal tumor of the liver. A 60-year-old woman with a large mass in the liver was asymptomatic with no hepatic virus infection and negative tumor markers. Because the tumor was unresectable by conventional means, we used extracorporeal hepatic resection and autotransplantation (ECHRA) for operation. The pathology showed a gastrointestinal stromal tumor that was diagnosed based on positive immunostaining for c-kit and CD34. Mutation analysis revealed an acquired mutation in exon 11 of c-kit...
January 2015: Transplantation Proceedings
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