An overview of agents and treatments for PDGFRA-mutated gastrointestinal stromal tumors

Sun, Yingchao; Yue, Lei; Xu, Pengfu

doi:10.3389/fonc.2022.927587

Cited by 17 publications

(12 citation statements)

References 125 publications

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“…Tumor rupture increases the risk of tumor metastases and recurrence which occurred in our patient [ 10 ]. As far as medical therapy is concerned, approved medications include imatinib, sunitinib, and ponatinib, which are tyrosine kinase receptor inhibitors [ 10 , 11 ].…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of a Gastrointestinal Stromal Tumor With Spontaneous Rupture

Meader¹,

Munis²,

Silas³

2023

Cureus

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Gastrointestinal stromal tumors (GIST) are uncommon tumors accounting for 1% of gastrointestinal neoplasms. The most common location of GISTs is in the stomach. Commonly, these tumors present incidentally with an increased presence within older patients. Spontaneous rupture of a GIST is a rare presentation of this uncommon tumor. Our case highlights the diagnostic dilemma and imaging that helped diagnose an abnormal presentation of a ruptured GIST in a young patient.

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Section: Discussionmentioning

confidence: 99%

Diagnosis of a Gastrointestinal Stromal Tumor With Spontaneous Rupture

Meader¹,

Munis²,

Silas³

2023

Cureus

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“…PDGFRA initiates various signaling pathways, including Ras-MAPK, Akt/PKB, JNK/SAPK, and PKC, after binding to ligand PDGFs 19 . PDGFRA signaling is associated with many physiological processes, such as embryonic development, cell proliferation, differentiation, migration, and survival, and is critical for organogenesis, including the development of the lung, intestine, skin, testis, and kidney 19 , 20 . PDGFRA signaling also plays a critical function in the development of ocular tissues such as the cornea, lens, and optic nerve 19 , 21 , 22 .…”

Section: Discussionmentioning

confidence: 99%

Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population

Fukasaku,

Meguro,

Takeuchi

et al. 2023

Sci Rep

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Corneal astigmatism is reportedly associated with polymorphisms of the platelet-derived growth factor receptor alpha (PDGFRA) gene region in Asian populations of Chinese, Malay, and Indian ancestry and populations of European ancestry. In this study, we investigated whether these PDGFRA polymorphisms are associated with corneal astigmatism in a Japanese population. We recruited 1,535 cases with corneal astigmatism (mean corneal cylinder power across both eyes: ≤ − 0.75 diopters [D]) and 842 controls (> − 0.75 D) to genotype 13 single-nucleotide polymorphisms (SNPs) in the PDGFRA gene region. We also performed imputation analysis in the region, with 179 imputed SNPs included in the statistical analyses. The PDGFRA SNPs were not significantly associated with the cases with corneal astigmatism ≤ − 0.75 D. However, the odds ratios (ORs) of the minor alleles of SNPs in the upstream region of PDGFRA, including rs7673984, rs4864857, and rs11133315, tended to increase according to the degree of corneal astigmatism, and these SNPs were significantly associated with the cases with corneal astigmatism ≤ − 1.25 D or ≤ − 1.50 D (Pc < 0.05, OR = 1.34–1.39). These results suggest that PDGFRA SNPs play a potential role in the development of greater corneal astigmatism.

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“…The proto-oncogene PDGFRA, located on chromosome 4 (q12), plays a significant role in the development of GISTs [39]. Like KIT, PDGFRA encodes a class III receptor tyrosine kinase (RTK) and is structurally homologous to KIT RTK.…”

Section: Pdgfra Mutations In Gastrointestinal Stromal Tumorsmentioning

confidence: 99%

Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature

Mirovic,

Stojanovic,

Jovanovic

et al. 2024

CIMB

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This case report details a rare instance of a perforated jejunal gastrointestinal stromal tumor (GIST) in a 76-year-old female patient. The patient presented with acute abdominal pain and distension without any changes in bowel habits or episodes of nausea and vomiting. Initial diagnostics, including abdominal plain radiography and ultrasonography, were inconclusive; however, a computed tomography (CT) scan revealed pneumoperitoneum and an irregular fluid collection suggestive of small intestine perforations. Surgical intervention uncovered a 35 mm jejunal GIST with a 10 mm perforation. Histopathological examination confirmed a mixed cell type GIST with high malignancy potential, further substantiated by immunohistochemistry markers CD117, DOG1, and vimentin. Molecular analysis illuminated the role of key oncogenes, primarily KIT and PDGFRA mutations, emphasizing the importance of molecular diagnostics in GIST management. Despite the severity of the presentation, the patient’s postoperative recovery was favorable, highlighting the effectiveness of prompt surgical and multidisciplinary approaches in managing complex GIST cases.

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An overview of agents and treatments for PDGFRA-mutated gastrointestinal stromal tumors

Cited by 17 publications

References 125 publications

Diagnosis of a Gastrointestinal Stromal Tumor With Spontaneous Rupture

Diagnosis of a Gastrointestinal Stromal Tumor With Spontaneous Rupture

Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population

Exploring Perforated Jejunal GIST: A Rare Case Report and Review of Molecular and Clinical Literature

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