A multidisciplinary approach in the diagnostic challenge of GIST

Ceauşu, Mihai; Socea, Bogdan; Ciobotaru, Vladimir Paul; Constantin, Vlad Denis; Enache, Simona; Enache, Valentin; Bancu, Alexandru; Socea, Laura Ileana; Şerban, Dragoş; Predescu, D; Smarandache, Cătălin Gabriel; Ceauşu, Zenaida

doi:10.3892/etm.2021.10497

Cited by 7 publications

(10 citation statements)

References 39 publications

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“…Pantelimon Emergency Clinical Hospital Bucharest (2011-2020) found that most tumour locations were stomach (49.12%) and sigmoid (3.5%) but no rectum. 12 Mesenchymal tumours of the prostate with spindle cell patterns required a comprehensive differential diagnosis. This case lacked specific clinical signs and symptoms, as well as laboratory findings.…”

Section: Discussionmentioning

confidence: 99%

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Diagnostic challenges of gastrointestinal stromal tumour during transurethral resection of the prostate: A case report

Putriyuni,

Zulfiqar,

Saberko

et al. 2023

JKKI

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Mesenchymal prostate tumours are relatively rare compared to epithelial tumours. To diagnose mesenchymal tumours on transurethral resection of the prostate (TURP) specimen, doctors have to consider a few differential diagnoses, including gastrointestinal stromal tumour (GISTs). We reported a 63 years-old male patient, presented with urinary retention in one week. Based on an initial scan of the abdomen, a large lobulated mass in the pelvic cavity from the prostate pushed up the urinary bladder. Histopathologic examination demonstrated cellular spindle cell neoplastic proliferation, a moderate degree of atypia, and a mitotic count of >5 per 50 high-power fields (HPFs) with a fascicular growth pattern. Immunohistochemically, the tumour had positive expression for CD117 (c-KIT), CD34, and discovered on Gist-1 (DOG-1), while smooth muscle actin (SMA) and S-100 were negative. The pathological report was consistent with a high-risk group of GISTs in the prostate. Subsequent imaging revealed that the tumour mass was centrally located between the rectum and prostate, infiltrating bladder and liver metastases. Comprehensive differential diagnoses of mesenchymal tumours involving the prostate are necessary because of the inadequacy of specific clinical signs, symptoms, and unexpected location. Diagnoses of GISTs was performed based on spindle cell pattern and the positive immunohistochemistry expression for CD117, CD34, and DOG-1. The tumour mass involved in the prostate with spindled morphology should be considered as a GIST, assisted with appropriate immunohistochemistry marker panel. It is a challenge to diagnose the GIST particularly involving the prostate.

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Section: Discussionmentioning

confidence: 99%

“…4 A study of Ceausu et al found that the sensitivity of preoperative CT-scan was 84.61% from 39 patients. 12 In diagnosing E-GIST, the origin of tumours in the gastrointestinal tract should be removed. Few GISTs are rectum-related, and some of these cases are mistakenly identified as prostatic E-GIST.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic challenges of gastrointestinal stromal tumour during transurethral resection of the prostate: A case report

Putriyuni,

Zulfiqar,

Saberko

et al. 2023

JKKI

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“…Despite recent advances in diagnosis and treatment, the 5-year OS remains poor. Moreover, gastrointestinal stroma tumor is a rare but highly curable cancer and has a satisfactory prognosis with a 5-year OS ranging from 60%-85%[ 18 , 19 ]. Notably, multimodal complications associated with radical gastrectomy during perioperative period should be addressed.…”

Section: Discussionmentioning

confidence: 99%

Cost-effective low-coverage whole-genome sequencing assay for the risk stratification of gastric cancer

Ye¹,

Mao²,

Zhou³

et al. 2022

WJGO

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BACKGROUND Gastric cancer (GC), a multifactorial disease, is caused by pathogens, such as Helicobacter pylori ( H. pylori ) and Epstein-Barr virus (EBV), and genetic components. AIM To investigate microbiomes and host genome instability by cost-effective, low-coverage whole-genome sequencing, as biomarkers for GC subtyping. METHODS Samples from 40 GC patients were collected from Taizhou Hospital, Zhejiang Province, affiliated with Wenzhou Medical University. DNA from the samples was subjected to low-coverage whole-genome sequencing with a median genome coverage of 1.86 × (range: 1.03 × to 3.17 ×) by Illumina × 10, followed by copy number analyses using a customized bioinformatics workflow ultrasensitive chromosomal aneuploidy detector. RESULTS Of the 40 GC samples, 20 (50%) were found to be enriched with microbiomes. EBV DNA was detected in 5 GC patients (12.5%). H. pylori DNA was found in 15 (37.5%) patients. The other 20 (50%) patients were found to have relatively higher genomic instability. Copy number amplifications of the oncogenes, ERBB2 and KRAS, were found in 9 (22.5%) and 7 (17.5%) of the GC samples, respectively. EBV enrichment was found to be associated with tumors in the gastric cardia and fundus. H. pylori enrichment was found to be associated with tumors in the pylorus and antrum. Tumors with elevated genomic instability showed no localization and could be observed in any location. Additionally, H. pylori- enriched GC was found to be associated with the Borrmann type II/III and gastritis history. EBV-enriched GC was not associated with gastritis. No statistically significant correlation was observed between genomic instability and gastritis. Furthermore, these three different molecular subtypes showed distinct survival outcomes ( P = 0.019). EBV-positive tumors had the best prognosis, whereas patients with high genomic instability (CIN+) showed the worst survival. Patients with H. pylori infection showed intermediate prognosis compared with the other two subtypes. CONCLUSION Thus, using low-coverage whole-genome sequencing, GC can be classified into three categories based on disease etiology; this classification may prove useful for GC diagnosis and precision medicine.

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“…Additionally, according to previousstudies, approximately 40-70% of GISTs originate in the stomach, 20-40% in the small intestine, and less than 10% in the rectum, colon, and esophagus [10]. Those are known as extra-gastrointestinal stromal tumors (eGIST) and typically behave aggressively [11]. On the other hand, the retroomentum, uterus, and mesentery are examples of extraintestinal sites where GISTs can grow [9].…”

Section: Introductionmentioning

confidence: 99%

A Case Report of an Advanced Stage Gastrointestinal Stromal Tumor Successfully Treated by Surgery and Imatinib

Meligy¹,

ALakkad²,

Almahameed³

et al. 2022

AJMAH

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Background: The most prevalent gastrointestinal sarcoma is a gastrointestinal stromal tumor.It is frequently misdiagnosed due to its indolent symptoms, which only manifest at an advanced and potentially incurable stage. Case Report: This case report is that ofa recent case of a GIST of gastric origin. Itdiscusses the case of a 56-year-old, non-smoking male with no comorbiditieswho presented to the emergency department with severe colicky intermittent adnominal pain that had occurred over the past three days, approximately three years ago. On September3, 2019, the patient underwent laparotomy in which a mass and related small bowel segment (the part of the omentum) was removed. Later, the pathology profile revealed a neoplasm of the small bowel-Ileum, Gastrointestinal stromal tumor (GIST) with a high-risk tumor of stage 4 with no recorded nodular involvement and no recorded metastasis pT4 pNxpMx but with clear margins. Moreover, the tumor markers KIT (CD117), CD34, and DOG1 (ANO1) were found to be positive. Ki67 was noted up to 35%. However, S-100 and SMA were found to be negative. On gross examination, the lesion's greatest dimension was 11 cm, and other dimensions were 9x6 cm. The tumor had a spindle-shaped morphology. On the basis of these laboratory findings and pathology profile, the patient's diagnosis was a Gastrointestinal Stromal tumor thatwas managed viasurgery. At that time, the patient was also prescribed Imatinib 400 mg. It has been three years since then, our patient is still alive, and no cancer recurrence has been reported yet. Conclusion: This case report revealed that interventional radiology's early engagement with the surgical procedure was the cornerstone of our patient's effective treatment and should be investigated at different stages of the gastrointestinal tumor.

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A multidisciplinary approach in the diagnostic challenge of GIST

Cited by 7 publications

References 39 publications

Diagnostic challenges of gastrointestinal stromal tumour during transurethral resection of the prostate: A case report

Diagnostic challenges of gastrointestinal stromal tumour during transurethral resection of the prostate: A case report

Cost-effective low-coverage whole-genome sequencing assay for the risk stratification of gastric cancer

A Case Report of an Advanced Stage Gastrointestinal Stromal Tumor Successfully Treated by Surgery and Imatinib

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