News - PDGFRA mutation

CNS angiocentric stromal tumor (CAST), PDGFRA-mutant, a novel entity histologically mimicking meningioangiomatosis and radiologically correlating with giant Virchow-Robin spaces. (PubMed, Acta Neuropathol)

No abstract available

7 days ago

Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CAST (Calpastatin)

PDGFRA mutation

AZURE: Study of Elenestinib (BLU-263) in Advanced Systemic Mastocytosis (AdvSM) and and Other KIT Altered Hematologic Malignancies (clinicaltrials.gov)

P1, N=9, Terminated, Blueprint Medicines Corporation | N=67 --> 9 | Trial completion date: Dec 2025 --> Mar 2025 | Active, not recruiting --> Terminated; Terminated - alignment of strategic priorities

8 days ago

Enrollment change • Trial completion date • Trial termination

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA D842V • PDGFRA mutation

azacitidine • elenestinib (BLU-263)

18d

Identifying and managing rare subtypes of gastrointestinal stromal tumors. (PubMed, Expert Rev Gastroenterol Hepatol)

This is a rare and heterogeneous group of challenging GISTs due to their diversity and absence of sensitivity to the tyrosine kinase inhibitor (TKI) imatinib...In SDH-deficient GISTs, the TKI olverembatinib has shown encouraging clinical activity but requires further clinical validation, while the HIF2a inhibitor bezultifan and temozolomide alone or in combination with the death receptor agonist 5 are under clinical investigation...Rare molecular alterations in quadruple WT GISTs require investigation for their oncogenic potential. Collaborative research and patient advocacy is critical for these extremely rare tumors.

18 days ago

Review • Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • EPAS1 (Endothelial PAS domain protein 1)

KIT mutation • RAS mutation • PDGFRA mutation

imatinib • temozolomide • Nailike (olverembatinib)

20d

CRE25-047: Avapritinib Induced Pseudoprogression in a Gastrointestinal Stromal Tumor With a PDGFRA Exam 18 842 Mutation. (PubMed, J Natl Compr Canc Netw)

No abstract available

20 days ago

Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

Ayvakit (avapritinib)

22d

Therapeutic Challenges and Emerging Strategies for T674I and PTPN11 Mutations in a FIP1L1-PDGFRA-Positive Myeloproliferative Neoplasm: A Case Report. (PubMed, Life (Basel))

Myeloproliferative neoplasm (MPN) with eosinophilia associated with FIP1L1-PDGFRA is a rare eosinophilic disorder typically treated with imatinib...Further treatments, including sorafenib and decitabine, failed to control the disease, and the patient ultimately died from multiorgan failure. This case illustrates the therapeutic challenges associated with FIP1L1-PDGFRA T674I-positive eosinophilic disorder, especially when compounded by the PTPN11 mutation. Resistance to standard treatments underscores the urgent need for novel therapies to manage this rare and aggressive disease.

22 days ago

Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)

PDGFRA mutation

sorafenib • imatinib • decitabine

23d

A case of quadruple wild-type gastrointestinal stromal tumor with CDC42BPB::NTRK3 fusion and abundant lymphoid infiltration. (PubMed, Diagn Pathol)

However, the expression of the Trk protein in tumor tissue was not detected by immunohistochemistry (IHC). This finding expands the genetic spectrum of NTRK rearrangements in GISTs.

23 days ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NTRK (Neurotrophic receptor tyrosine kinase) • CDC42BPB (CDC42 Binding Protein Kinase Beta)

PDGFRA mutation

Characteristics and therapeutic strategies for familial gastrointestinal stromal tumors. (PubMed, World J Gastrointest Oncol)

The management of GISTs, especially in familial cases, requires a multidisciplinary approach. Cases of different gene mutations were reported in the same family, suggesting that incorporating genetic testing into routine clinical practice is crucial for the early identification of high-risk individuals and the implementation of tailored surveillance programs.

1 month ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA mutation

Gastric gastrointestinal stromal tumor in a patient with neurofibromatosis type I presenting with anemia: A case report. (PubMed, World J Gastrointest Oncol)

Given the diversity of clinical symptoms associated with NF1 and the complexity of NF1-related GISTs, surgical resection with complete tumor removal remains the preferred treatment option. However, the absence of a standardized treatment protocol for adjuvant therapy presents numerous challenges for clinicians.

1 month ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • CD34 (CD34 molecule)

KIT mutation • PDGFRA mutation

Stivarga (regorafenib)

Effective targeting of PDGFRA-altered high-grade glioma with avapritinib. (PubMed, Cancer Cell)

Our early data demonstrate that avapritinib is well tolerated and results in radiographic response in 3/7 cases, suggesting a potential role for avapritinib in the treatment of HGG with specific PDGFRA alterations. Overall, these translational results underscore the therapeutic potential of PDGFRA inhibition with avapritinib in HGG.

1 month ago

Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

Ayvakit (avapritinib)

A rare unifocal gastric gastrointestinal stromal tumor in a young NF1 patient: A case report. (PubMed, Int J Surg Case Rep)

This case highlights the unique clinical and pathological characteristics of NF1-associated GISTs, stressing the need for vigilant assessment in NF1 patients with gastrointestinal symptoms.

1 month ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • CD34 (CD34 molecule) • ANO1 (Anoctamin 1)

KIT mutation • PDGFRA mutation

imatinib

Clinical description and development of a prognostic score for neurofibromatosis type 1 (NF1)-associated GISTs: a retrospective study from the NETSARC. (PubMed, ESMO Open)

For NF1-GISTs <30 mm, prognosis without relapse is excellent. RECKGIST score accurately predicts recurrence and needs to be validated in an external cohort, but it may help treatment decision making. No efficacy of adjuvant treatment was observed.

1 month ago

Retrospective data • Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1)

KIT mutation • PDGFRA mutation

imatinib

2ms

Impact of Mutation Profile on Outcomes of Neoadjuvant Therapy in GIST. (PubMed, Cancers (Basel))

Our study highlights the variability in treatment response associated with different GIST mutational profiles. Patients with a KIT-exon-11 mutation tended to respond more favorably to neoadjuvant imatinib in terms of partial response and surgical outcomes.

2 months ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NTRK (Neurotrophic receptor tyrosine kinase)

PDGFRA mutation

imatinib

2ms

Avapritinib for the Treatment of CKIT or PDGFRA Mutation-Positive Locally Advanced or Metastatic Malignant Solid Tumors (clinicaltrials.gov)

P2, N=50, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Feb 2025 --> Dec 2026 | Trial primary completion date: Feb 2025 --> Dec 2026

2 months ago

Trial completion date • Trial primary completion date

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

FoundationOne® CDx • Guardant360® CDx

Ayvakit (avapritinib)

2ms

AZURE: Study of Elenestinib (BLU-263) in Advanced Systemic Mastocytosis (AdvSM) and and Other KIT Altered Hematologic Malignancies (clinicaltrials.gov)

P1, N=67, Active, not recruiting, Blueprint Medicines Corporation | Recruiting --> Active, not recruiting | Phase classification: P1/2 --> P1 | Trial completion date: Nov 2029 --> Dec 2025 | Trial primary completion date: Nov 2029 --> Jan 2025

2 months ago

Enrollment closed • Phase classification • Trial completion date • Trial primary completion date

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA D842V • PDGFRA mutation

azacitidine • elenestinib (BLU-263)

2ms

A deep-learning model for predicting tyrosine kinase inhibitor response from histology in gastrointestinal stromal tumor. (PubMed, J Pathol)

To overcome the challenges associated with genetic screening by sequencing, in the current study we developed an artificial intelligence-based deep-learning （DL） model that uses convolutional neural networks (CNN) to analyze digitized hematoxylin and eosin staining in tumor histological sections to predict potential response to imatinib or avapritinib treatment in GIST patients. These results demonstrate the potential of a DL model to improve predictions of treatment response to TKI therapy from histology in GIST patients.

2 months ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA mutation

imatinib • Ayvakit (avapritinib)

2ms

Transcriptome-proteome integration analysis identifies elevated expression of LARP7 promoting the tumorigenesis and development of gastrointestinal stromal tumors. (PubMed, Transl Oncol)

Furthermore, LARP7 was elevated in imatinib-resistant GISTs, with some other drugs predicted to aid in therapy. LARP7 knockdown resulted in reduced proliferation and migration of GIST-T1 and GIST-882 cells. Overall, high expression of LARP7 correlates with poor prognosis in GISTs, highlighting its potential as a therapeutic target.

2 months ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CD8 (cluster of differentiation 8) • H19 (H19 Imprinted Maternally Expressed Transcript) • LINC00665 (Long Intergenic Non-Protein Coding RNA 665) • MIR138 (MicroRNA 138)

PDGFRA mutation

imatinib

2ms

A Review of Genomic Testing and SDH- Deficiency in Gastrointestinal Stromal Tumors: Getting to the GIST. (PubMed, Cancer Med)

The identification of mutations in genes such as KIT and PDGFRA has transformed treatment approaches, particularly through targeted therapies like imatinib, which have improved patient outcomes...Despite the availability of guidelines, variability exists in genomic testing recommendations across different regions, necessitating a unified approach. This review proposes a simplified algorithm for the genomic workup of GIST, and suggests all individuals with SDH-deficient GIST, regardless of germline testing result, require monitoring for additional SDHx-related tumors, given the lack of widely available methylation and full gene SDHA analysis.

2 months ago

Review • Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • SDHC (Succinate Dehydrogenase Complex Subunit C) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

KIT mutation • PDGFRA mutation

imatinib

2ms

Actionable alterations in glioblastoma: Insights from the implementation of genomic profiling as the standard of care from 2016 to 2023. (PubMed, Neurooncol Pract)

Genomic profiling uncovers alterations of interest in a substantial number of patients, but only a minority are considered by the Danish National Molecular Tumor Board to have actionable alterations, and even fewer receive targeted therapy. Nevertheless, factors, such as promising targets and the increasing availability of trials, may contribute to a future increase in the number of patients benefiting from targeted therapies based on genomic profiling.

2 months ago

Journal

TMB (Tumor Mutational Burden) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FGFR (Fibroblast Growth Factor Receptor) • NTRK (Neurotrophic receptor tyrosine kinase) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)

BRAF V600E • TMB-H • BRAF V600 • FGFR mutation • PDGFRA mutation • NTRK fusion

3ms

18F-Fluorodeoxyglucose Uptake in PDGFRA-Mutant Gastrointestinal Stromal Tumors. (PubMed, JAMA Netw Open)

In this cohort study of patients with PDGFRA-mutant GISTs, the D842V-mutant GISTs were associated with an overall lower [18F]FDG uptake compared with other GIST subgroups. Therefore, the role of functional imaging with [18F]FDG-PET in this subset of GISTs may be limited and should be further explored for its potential prognostic and predictive value.

3 months ago

Retrospective data • Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA D842V • PDGFRA mutation

3ms

Patient-derived xenograft models of gastrointestinal stromal tumors: a ready-to-use platform for translational research. (PubMed, Dis Model Mech)

One model is characterized by a primary, imatinib-resistant PDGFRA exon 18 p.D842V mutation. Our established platform of well-characterized GIST PDX models, covering the most relevant driver mutations, serves as an excellent tool for preclinical drug testing and tumor biology studies.

3 months ago

Preclinical • Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA D842V • PDGFRA mutation • PDGFRA exon 18 mutation

imatinib

3ms

Design, Synthesis, and SAR of Covalent KIT and PDGFRA Inhibitors─Exploring Their Potential in Targeting GIST. (PubMed, J Med Chem)

SAR studies provided key insights into mutant KIT and PDGFRA interactions, and the first crystal structure of PDGFRA bound to a covalent inhibitor is reported. These findings highlight the promise of covalent inhibitors for overcoming resistance and advancing safer, more effective therapies for advanced GIST.

3 months ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

3ms

Multiple small bowel GIST as GI manifestation of neurofibromatosis type I: A case report. (PubMed, Radiol Case Rep)

In NF1-associated GIST, KIT and PDGFRA mutations are frequently absent and imatinib is ineffective...Surgical resection may also be performed for both diagnosis and treatment. The objective of this case repot is to describe the radiological feature of multiple GIST in elder NF1 patient in resource limited setup.

3 months ago

Journal

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1)

PDGFRA mutation

imatinib

3ms

Discovery of novel PDGFR inhibitors targeting non-small cell lung cancer using a multistep machine learning assisted hybrid virtual screening approach. (PubMed, RSC Adv)

Among PDGFR inhibitors, avapritinib has garnered attention due to its selective activity against mutant forms of PDGFR, particularly PDGFRA D842V and KIT exon 17 D816V, linked to resistance against conventional tyrosine kinase inhibitors...Our study exemplifies the potential of Machine Learning in the drug discovery process, providing a more efficient and cost-effective means of identifying promising drug candidates for NSCLC treatment. The success of this approach in preselecting compounds with potent PDGFRA inhibitory potential highlights its significance in advancing personalized and targeted therapies for cancer treatment.

3 months ago

Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA D842V • PDGFRA mutation • KIT D816V • KIT exon 17 mutation

Ayvakit (avapritinib)

3ms

Targeted Next-Generation Sequencing in Succinate Dehydrogenase-Deficient GI Stromal Tumor Identifies Actionable Alterations in the PI3K/mTOR Pathway. (PubMed, JCO Precis Oncol)

This molecular landscape of SDH-deficient GIST uncovers novel molecular alterations, mostly in relapse and/or previously pretreated patients. The identification of genetic events leading to PI3K/mTOR dysregulation together with the remarkable activity of everolimus in one patient showcases the clinical relevance of this pathway, validates the utility of NGS in this population, and poses everolimus as a novel therapeutic alternative. Several other alterations were found at the genetic and genomic levels, underscoring novel biological processes likely involved during tumor evolution.

3 months ago

Retrospective data • Journal • Next-generation sequencing • Tumor mutational burden

TMB (Tumor Mutational Burden) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

everolimus

4ms

Identification of D842V mutation in gastrointestinal stromal tumors based on CT radiomics: a multi-center study. (PubMed, Cancer Imaging)

This study demonstrated the potential of radiomics features based on venous-phase CECT images to identify D842V mutation in GISTs. Our model may provide an alternative approach to guide TKI therapy for patients inaccessible to sequence variant testing, potentially improving treatment outcomes for GIST patients especially in resource-limited settings.

4 months ago

Retrospective data • Journal • Stroma

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA D842V • PDGFRA mutation

imatinib • sunitinib

4ms

Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015) (clinicaltrials.gov)

P2, N=322, Recruiting, Merck Sharp & Dohme LLC | Trial completion date: Feb 2027 --> Jun 2029 | Trial primary completion date: Feb 2027 --> Jun 2029

4 months ago

Trial completion date • Trial primary completion date • Stroma • Metastases

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • VHL (von Hippel-Lindau tumor suppressor) • EPAS1 (Endothelial PAS domain protein 1)

PDGFRA mutation

Welireg (belzutifan)

4ms

ALT GIST: A Randomised Trial of Imatinib Alternating With Regorafenib Compared to Imatinib Alone for the First Line Treatment of Advanced Gastrointestinal Stromal Tumour (GIST) (clinicaltrials.gov)

P2, N=78, Completed, Australasian Gastro-Intestinal Trials Group | Active, not recruiting --> Completed

4 months ago

Trial completion • Stroma • Metastases

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ANO1 (Anoctamin 1)

PDGFRA mutation

imatinib • Stivarga (regorafenib)

4ms

Are PDFGRA Dinucleotide Alterations Definitional for Myxoid Glioneuronal Tumor? Report of PDFRA p. K385L Mutation in a Neonatal High-Grade Glioma. (PubMed, Pediatr Dev Pathol)

In summary, we report the occurrence of PDGFRA hotspot mutation in a neonatal high-grade glioma without distinct features of MGNT, demonstrating that this genetic alteration is not specific to MGNT. We recommend caution in classifying a tumor as MGNT solely by the presence of PDGFRA alteration.

4 months ago

Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

4ms

Prognostic Significance of C-MYC and EGFR Overexpression in Gastrointestinal Stromal Tumors: An Immunohistochemical Study. (PubMed, Appl Immunohistochem Mol Morphol)

Our findings suggest that both C-MYC and EGFR may be overexpressed and/or amplified in GISTs, indicating their potential prognostic role. This could also pave the way for therapeutic strategies targeting these proteins.

4 months ago

Journal • Stroma

EGFR (Epidermal growth factor receptor) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

EGFR expression • KIT mutation • MYC expression • PDGFRA mutation

5ms

Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma-affected patients: a pilot study. (PubMed, Front Oncol)

Our data indicate that sDNA could aid in the monitoring of patients' follow-up as low-frequency somatic mutations could be assessed from the saliva of HNSCC patients. Prospectively, these results suggest that salivary-based liquid biopsy might pave the way for personalized molecular therapies based on mutational data.

5 months ago

Journal

TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • FBXW7 (F-Box And WD Repeat Domain Containing 7)

TP53 mutation • PDGFRA mutation

5ms

Different efficacy of tyrosine kinase inhibitors by KIT and PGFRA mutations identified in circulating tumor DNA for the treatment of refractory gastrointestinal stromal tumors. (PubMed, BJC Rep)

ctDNA-based analysis facilitates assessment of disease status and genomic profiles, thus potentially assisting in identifying optimal therapeutic strategies for advanced GIST patients.

5 months ago

Journal • Circulating tumor DNA • Stroma

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA mutation

5ms

A Study of DCC-3116 in Combination with Anticancer Therapies in Participants with Advanced Malignancies (clinicaltrials.gov)

P1/2, N=94, Recruiting, Deciphera Pharmaceuticals, LLC | Trial completion date: Jun 2027 --> Mar 2029

5 months ago

Trial completion date

BRAF (B-raf proto-oncogene) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

BRAF V600E • BRAF V600 • KIT mutation • KIT exon 11 mutation • PDGFRA mutation

Qinlock (ripretinib) • inlexisertib (DCC-3116)

6ms

Gastrointestinal Stromal Tumors: Variants and Some Pitfalls That They Create. (PubMed, Adv Anat Pathol)

It is also important to consider morphologic and immunophenotypic changes associated with treatment, including the potential absence of kit expression, particularly in GISTs that have metastasized. Therefore, obtaining clinical information regarding prior therapy with a tyrosine kinase inhibitor (TKI) is crucial.

6 months ago

Review • Journal • Stroma

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • ANO1 (Anoctamin 1)

PDGFRA mutation • KIT expression

6ms

Comprehensive Genomic Assessment of Advanced-Stage GI Stromal Tumors Using the Japanese National Center for Cancer Genomics and Advanced Therapeutics Database. (PubMed, JCO Precis Oncol)

This study highlights the genomic landscape of advanced GISTs and the important role of CGP in identifying rational molecular-targeted therapeutic options.

6 months ago

Retrospective data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • Stroma • Metastases

HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • STK11 (Serine/threonine kinase 11) • HRD (Homologous Recombination Deficiency) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ETV6 (ETS Variant Transcription Factor 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • NTRK (Neurotrophic receptor tyrosine kinase) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)

TMB-H • NTRK3 fusion • HRD • ETV6-NTRK3 fusion • PDGFRA mutation • PDGFR wild-type

Keytruda (pembrolizumab)

6ms

Current Drug Resistance Mechanisms and Treatment Options in Gastrointestinal Stromal Tumors: Summary and Update. (PubMed, Curr Treat Options Oncol)

Despite the significant improvement in treatment outcomes with adjuvant imatinib therapy for patients, drug resistance remains a major challenge for GIST therapy...The OXPHOS pathway is a promising therapeutic target in combination with TKI against sensitive KIT/PDGFRA mutants. Comprehensive understanding of the above resistance mechanisms, experimental drugs/strategies and metabolic changes is critical to implement the proper therapy strategy and improve the clinical therapy outcomes for GIST.

6 months ago

Review • Journal • Stroma

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

imatinib

6ms

Molecular profiling of Oral epithelial dysplasia and Oral Squamous cell carcinoma using Next Generation Sequencing. (PubMed, J Stomatol Oral Maxillofac Surg)

The results obtained in this study explain the diverse genetic mutations in various grades of oral squamous cell carcinoma. Identification of these mutations would help in providing better treatment, designing a proper treatment plan for the patients with OSCC and support minimal intervention medicine.

6 months ago

Journal • Next-generation sequencing

NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7)

TP53 mutation • NRAS Q61 • CTNNB1 mutation • PDGFRA mutation • NRAS G13 • TP53 R248Q • TP53 R213

6ms

Pan-Canadian consensus recommendations for GIST management in high- and low-throughput centres across Canada. (PubMed, Ther Adv Med Oncol)

This literature review, along with clinical expertise and opinion, was used to develop this concise and clinically relevant consensus paper to harmonize the knowledge and clinical practice on GIST management across Canada. The content presented here will help guide healthcare providers, especially in Canada, in terms of approaching and managing GIST.

6 months ago

Review • Journal

PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

imatinib • sunitinib • Stivarga (regorafenib) • Ayvakit (avapritinib) • Qinlock (ripretinib)

6ms

MicroRNA expression signature in gastrointestinal stromal tumour & their molecular & histological features. (PubMed, Indian J Med Res)

Interpretation & conclusions The present study showed that the down-regulation of these miRNAs may help better molecular classification and characterization of GISTs. Our results offer new insight into the association between miRNAs and histological features, enabling a more thorough understanding of GISTs at the molecular level.

6 months ago

Journal • Stroma

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MIR34A (MicroRNA 34a-5p) • MIR221 (MicroRNA 221) • MIR494 (MicroRNA 494) • MIR222 (MicroRNA 222)

KIT exon 11 mutation • PDGFRA mutation • KIT expression

6ms

Clinicopathological and Molecular Genetic Insights into EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma. (PubMed, Hum Pathol)

Compared with the FDCS group, EBV+ IFDCS patients had a significantly longer median PFS time (p<0.05). In conclusion, EBV+ IFDCS represents a group of tumors with unique clinical, morphological, immunological, prognostic, and molecular cytogenetic characteristics.

6 months ago

Journal

EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • RUNX1 (RUNX Family Transcription Factor 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CXCL13 (Chemokine (C-X-C motif) ligand 13) • MTHFR (Methylenetetrahydrofolate Reductase) • SSTR2 (Somatostatin Receptor 2) • NQO1 (NAD(P)H dehydrogenase, quinone 1) • FANCG (FA Complementation Group G) • CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) • CR1 (Complement C3b/C4b Receptor 1) • FCER2 (Fc Fragment Of IgE Receptor II)

EGFR expression • PDGFRA mutation • MSH2 mutation • MLH1 mutation • STAT3 expression • FANCG mutation

7ms

Oncogenetic Panel and Integrated Clinical Data Registry Study for Wild Type Gastrointestinal Stromal Tumor Patients (clinicaltrials.gov)

P=N/A; Trial primary completion date: Dec 2025 --> Dec 2024

7 months ago

Trial primary completion date • Stroma

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation • KIT wild-type • PDGFR wild-type

OncoPanel™ Assay

7ms

Two different mutational types of familial gastrointestinal stromal tumors: Two case reports. (PubMed, World J Gastrointest Oncol)

Different mutation types of familial GISTs in the same family are very rare, thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.

7 months ago

Journal • Stroma

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

KIT mutation • PDGFRA mutation

imatinib

7ms

BLU-285-3101: A Study of Avapritinib in Pediatric Patients With Solid Tumors Dependent on KIT or PDGFRA Signaling (clinicaltrials.gov)

P1/2, N=37, Active, not recruiting, Blueprint Medicines Corporation | Recruiting --> Active, not recruiting | Trial completion date: Apr 2025 --> Dec 2025

7 months ago

Enrollment closed • Trial completion date

KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)

PDGFRA mutation

Ayvakit (avapritinib)