Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours

Madhala, Divya; Sundaram, Sandhya; Chinambedudandapani, MohanaPriya; Balasubramanian, Archana

doi:10.7759/cureus.7369

Cited by 2 publications

(2 citation statements)

References 28 publications

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“…Immunohistochemical findings include cells that are positive for CD117, CD34, DOG-1, Ki-67, and succinate dehydrogenase B. C-kit proto-oncogene mutations are common in GIST, mainly in exons 9, 11, 13, and 17. In addition, the PDGFRA gene is also frequently mutated in GIST, mainly in exons 12 and 18[ 19 - 21 ]. GS does not exhibit c-kit proto-oncogene and PDGFRA gene mutations[ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Gastric schwannoma misdiagnosed as gastrointestinal stromal tumor by ultrasonography before surgery: A case report

Li¹,

Liu²

2022

WJCC

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BACKGROUND Gastric origin tumors were diagnosed and evaluated preoperatively by gastroscopy, endoscopic ultrasonography, computed tomography (CT) or magnetic resonance imaging. Currently, transabdominal high-resolution ultrasound combined with gastrointestinal contrast agent can be used to diagnose stomach tumors effectively and without invasive procedures or radiation. However, although an appreciable number of cases of gastric schwannoma (GS) have been reported since the first description of such in 1988, the ongoing lack of a comprehensive list of ultrasonic characteristics has limited the accuracy of preoperative ultrasound diagnosis. CASE SUMMARY A 64-year-old female patient presented to our hospital with dizziness and head discomfort. During an abdominal ultrasound, a hypoechoic gastric mass was found, having clear and regular boundaries and no observable blood flow. Based on these characteristics, a gastrointestinal stromal tumor was suspected. Results from an endoscopic ultrasound biopsy and accompanying immunohistochemical analysis, coupled with abdominal CT findings indicating lymph node enlargement around the stomach, led to diagnosis of GS but did not exclude malignancy. After surgical resection of the tumor, the final diagnosis of GS without lymph node metastasis was made. No recurrence has occurred in the 6 years of follow-up. CONCLUSION A clearly defined ultrasonic characteristic profile of GS is important to improve diagnostic accuracy.

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Section: Discussionmentioning

confidence: 99%

Gastric schwannoma misdiagnosed as gastrointestinal stromal tumor by ultrasonography before surgery: A case report

Li¹,

Liu²

2022

WJCC

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“…[1] The incidence of GIST in the general population is approximately 0.001% to 0.0015%. [2] The most common genetic mutations in GISTs are in the genes encoding c-Kit (CD117) receptor tyrosine kinase (75-95%) [3,4] and PDGF receptor-a (PDGFRA) tyrosine kinase (5-10%). [5,6] However, 10% to 15% of patients do not have mutations in either KIT or PDGFRA ; these cases are defined as wild-type GIST.…”

Section: Introductionmentioning

confidence: 99%

The current state of chemotherapy for the treatment of gastrointestinal stromal tumors with different genotypes: a narrative review

Xiao

et al. 2021

J Bio-X Res

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Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasm of the digestive system and are not sensitive to traditional chemotherapy. Therefore, historically, surgical resection was the only effective therapy. However, the emergence of tyrosine kinase inhibitors (TKIs) has revolutionized the treatment of GISTs, because they target c-Kit and PDGF receptor-a (PDGFRA), which are important in GIST development and progression. As research into c-Kit and PDGFRA continues, an increasing number of different TKIs are being used in the clinical setting. This review aims to discuss the current state of chemotherapy for the treatment of GISTs with different genotypes.

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Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours

Cited by 2 publications

References 28 publications

Gastric schwannoma misdiagnosed as gastrointestinal stromal tumor by ultrasonography before surgery: A case report

Gastric schwannoma misdiagnosed as gastrointestinal stromal tumor by ultrasonography before surgery: A case report

The current state of chemotherapy for the treatment of gastrointestinal stromal tumors with different genotypes: a narrative review

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