Utility of DOG1 Immunomarker in Fine Needle Aspirates of Gastrointestinal Stromal Tumor

2015 ◽  
Vol 59 (1) ◽  
pp. 61-67 ◽  
Author(s):  
Aanchal Kakkar ◽  
Sandeep R. Mathur ◽  
Deepali Jain ◽  
Venkateswaran K. Iyer ◽  
Aasma Nalwa ◽  
...  

Background: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. DOG1 is a sensitive and specific immunohistochemical marker for the diagnosis of GIST. To date, no study has reported the utility of DOG1 immunocytochemistry on aspirate smears. Methods: Aspirates with a cytological diagnosis of GIST were retrieved. DOG1 immunocytochemistry was performed on aspirates with adequate material. Results: 23 cases were included (11 primary, 2 recurrent, 10 metastatic). Primary tumors were most frequently located in the stomach; most metastatic tumors were in the liver. Tumor cells were arranged in cohesive clusters with high cellularity. Cells were spindled, had a low N:C ratio, and a moderate amount of cytoplasm, which was elongated and tapering. Characteristic nuclear features included elongated nuclei with blunt or tapering ends, fine chromatin, mild anisonucleosis, and longitudinal grooves. The mitotic count was low, including in metastatic tumors. DOG1 immunopositivity was noted in 57% of the cases examined. Histopathology was available in 5 cases, all diagnosed as GIST. Conclusion: Cytology is a sensitive investigative modality for the preoperative diagnosis and confirmation of metastasis of GISTs. In ambiguous cases, DOG1 immunocytochemistry can serve as a valuable adjunct. Cytologic assessment, however, cannot predict malignant potential of GISTs as even metastatic tumors display bland nuclear features.

2021 ◽  
Vol 5 (1) ◽  
pp. 49-53
Author(s):  
Aamir Ghazanfar ◽  
Afifa Asghar ◽  
Farrukh Zaman ◽  
Hassan Mumtaz ◽  
Shahzeb Habib ◽  
...  

A gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. It is caused by the mutation in KIT and PDGFRα genes. It constitutes <1% of all gastrointestinal tumors. Duodenal GISTs constitute 4.5% of all GISTs. We report a 61-year-old lady, presented with generalized abdominal pain, vomiting, abdominal distension, and nausea for the last 3 years. Physical exam-ination showed a pallor and on abdominal examination, a large palpable mass was extending from the pelvis to the right upper quadrant of the abdomen. The CT scan showed a large heterogeneously echogenic mass in the abdomen and pelvis with no lymphadenopathy and distant metastasis in this region. Laparotomy showed a large globular mass extending from the pelvis to the right upper quadrant of the abdomen adherent to the wall of a third part of the duodenum. Complete surgical resection of tumor done with an intact capsule. Microscopic examination showed neoplastic spindle cells with tumor necrosis. An immunohistochemical study confirmed GIST.


2020 ◽  
Vol 2020 (4) ◽  
Author(s):  
Kyle Litow ◽  
Gaby Jabbour ◽  
Alexandra Bahn-Humphrey ◽  
Christy Stoller ◽  
Peter Rhee ◽  
...  

Abstract Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the alimentary tract and usually presents with gastrointestinal hemorrhage. The diagnosis of GIST is typically made with upper endoscopy after excluding other causes of bleeding. The surgical management of GIST can be challenging depending upon the location of the tumor. We present a unique case of duodenal GIST in the setting von Willebrand’s disease diagnosed after emergent laparotomy for massive gastrointestinal hemorrhage. Key strategies in curing our patient were treating the underlying bleeding disorder, collaborating with radiology and gastroenterology teams, and early exploratory laparotomy for refractory hemorrhage. This case demonstrates the challenges of diagnosing and managing GIST in patients with underlying coagulopathies.


2018 ◽  
Vol 6 (1-2) ◽  
pp. 19-22
Author(s):  
Anamika Jha ◽  
Bigyan Paudel ◽  
Akhilesh Kasyap

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract which earlier was classified as leiomyomas, leiomyosarcomas and leiomyoblastomas. These are known to have specific markers and are important to diagnose as targeted chemotherapy is available. Our case represents one of the ends of the spectrum of clinical presentation of gastrointestinal tumors – an aggressive large mass at a younger than the usual age of presentation. Though challenging, imaging diagnosis of GIST is very important as it can guide the confirmation of the same by identification of the markers on pathology.


2019 ◽  
Vol 25 (6) ◽  
pp. 1473-1485 ◽  
Author(s):  
Ardavan Khoshnood

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract. With the advent of Imatinib, the treatment of gastrointestinal stromal tumor has been revolutionized as both the progression-free and overall survival rates have increased dramatically. Unfortunately, gastrointestinal stromal tumor patients on Imatinib do eventually fail due to resistance. Even though sunitinib and regorafenib have been shown to be highly effective as second- and third-line treatments, both have limited effects. New treatments are highly warranted for this reason. In this present review, 25 registered pharmacological clinical trials at ClinicalTrials.gov have been reviewed and show promising and encouraging results.


Epigenomics ◽  
2021 ◽  
Author(s):  
Gloria Ravegnini ◽  
Cèsar Serrano ◽  
Riccardo Ricci ◽  
Qianqian Zhang ◽  
Irene Terrenato ◽  
...  

Aim: Gastrointestinal stromal tumor management is extremely challenging, particularly the metastatic disease. The underlying mechanism in metastasis spread remains largely unknown. We aimed to characterize miRNAs involved in the metastatic process in gastrointestinal stromal tumor. Material & methods: Eight primary tumors and 18 synchronous metastases were analyzed through miRNA Taqman arrays or assays. Results: miRNAs profiles revealed similar expression in primary site and metastases. Pair-wise correlation coefficient between primary tumor and metastases was significant for each patient (p < 0.0001 for all profiled patients). Conclusion: Our study, the largest including primary tumors and metastases so far performed, highlighted perpetuation of miRNAs features in metastatic lesions and that the primary origin appears to be the main determinant of the metastases miRNA profile.


2018 ◽  
Vol 115 (25) ◽  
pp. E5746-E5755 ◽  
Author(s):  
Matthew L. Hemming ◽  
Matthew A. Lawlor ◽  
Rhamy Zeid ◽  
Tom Lesluyes ◽  
Jonathan A. Fletcher ◽  
...  

Activating mutations in the KIT or PDGFRA receptor tyrosine kinases are hallmarks of gastrointestinal stromal tumor (GIST). The biological underpinnings of recurrence following resection or disease progression beyond kinase mutation are poorly understood. Utilizing chromatin immunoprecipitation with sequencing of tumor samples and cell lines, we describe the enhancer landscape of GIST, highlighting genes that reinforce and extend our understanding of these neoplasms. A group of core transcription factors can be distinguished from others unique to localized and metastatic disease. The transcription factor HAND1 emerges in metastatic disease, binds to established GIST-associated enhancers, and facilitates GIST cell proliferation and KIT gene expression. The pattern of transcription factor expression in primary tumors is predictive of metastasis-free survival in GIST patients. These results provide insight into the enhancer landscape and transcription factor network underlying GIST, and define a unique strategy for predicting clinical behavior of this disease.


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