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BIOMARKER:

KIT positive

i
Other names: KIT, KIT proto-oncogene receptor tyrosine kinase, C-Kit, CD117, PBT, SCFR, Stem Cell Factor Receptor, V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Entrez ID:
19d
Appendiceal neurofibroma after resection of multiple gastrointestinal stromal tumors of the small intestine in a patient with neurofibromatosis type 1: a case report. (PubMed, Surg Case Rep)
Patients with NF1 can develop a variety of gastrointestinal lesions. Appendiceal neurofibroma can be difficult to diagnose preoperatively and differentiate from malignancy. Hence, surgical resection should be considered.
Journal • Stroma
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • NF1 (Neurofibromin 1)
|
KIT positive
1m
Gastrointestinal stromal tumor in Carney's triad with laparoscopic total gastrectomy: a case report. (PubMed, Surg Case Rep)
This case underscores the necessity of total gastrectomy with lymph node dissection due to the high incidence of metastasis in GISTs associated with Carney's triad. Further research is required to determine the optimal extent of lymph node dissection in such cases.
Journal • Stroma
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SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • ANO1 (Anoctamin 1)
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KIT positive
|
imatinib
2ms
SALL4 and C-kit positive malignant extrarenal rhabdoid tumor of the pelvis in a child: A diagnostic and therapeutic challenge. (PubMed, J Cancer Res Ther)
A complete immunohistochemical workup might help in differentiating ERRTs from other SMARCB1/INI1-deficient soft tissue tumors. The expression of stem cell markers in the presented case also suggests that these tumors might originate from or share similarities with embryonic stem cells or germ cells.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SALL4 (Spalt Like Transcription Factor 4)
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KIT positive • KIT expression
2ms
Gastrointestinal Stromal Tumor (GIST) in a Young Adult: A Rare Presentation and a Multidisciplinary Approach. (PubMed, Cureus)
He was treated with surgical resection with negative margins and imatinib therapy. Postoperative surveillance showed no evidence of malignancy and the patient experienced a positive response to treatment with stable hemoglobin levels and significant weight gain.
Journal • Stroma
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ANO1 (Anoctamin 1)
|
KIT positive
|
imatinib
9ms
Ipilimumab and Imatinib Mesylate in Advanced Cancer (clinicaltrials.gov)
P1, N=68, Completed, M.D. Anderson Cancer Center | Active, not recruiting --> Completed
Trial completion • Metastases
|
KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT mutation • KIT positive
|
Yervoy (ipilimumab) • imatinib
9ms
A Case of the Huge GIST in the Transverse Colon Mesentery with Intra-Tumoral Hemorrhage and Jejunal Infiltration (PubMed, Gan To Kagaku Ryoho)
She was discharged 45 days after first operation. Currently, 9 months after the operation, patient has been prescribed imatinib and is alive without recurrence.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • ANO1 (Anoctamin 1)
|
KIT positive
|
imatinib
10ms
A Case of Recurrent Gastric GIST Who Survived for Long after Laparoscopic Resection and Imatinib Therapy (PubMed, Gan To Kagaku Ryoho)
The pattern of tumor recurrence noted in the present case(ie, metastasis/dissemination to the skeletal muscles)is relatively rare, and few reports have been published concerning long-term survivors through multidisciplinary treatment (surgical treatment and others). We report this case with a review of the literature.
Journal
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CD34 (CD34 molecule)
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KIT positive • CD34 positive
|
imatinib
1year
Predictive Value of Elevated Tryptase and Mediator Symptoms in Systemic Mastocytosis - a Single Center Experience (ASH 2023)
While SM can have a variety of clinical manifestations, including elevated tryptase level and mediator release symptoms, the presence of KIT D816V in the peripheral blood is a strong predictor of SM diagnosis. Persistently elevated serum tryptase without the KIT D816V mutation may suggest the likelihood of HaT, while only mediator release symptoms with normal serum tryptase and without the KIT mutation is a strong negative predictor of SM and HaT.
Clinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
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KIT mutation • KIT positive • KIT D816V • KIT wild-type
1year
Multicenter Retrospective Analysis of Eosinophilic Myeloid Neoplasms (ASH 2023)
Despite the limitations of retrospective data analysis, the data from this large multicenter cohort of patients with HES due to a chronic myeloid neoplasm suggest that routine demographic, clinical and laboratory features vary depending on the underlying molecular abnormality. This approach could ultimately help guide empiric therapy when molecular studies are negative or unavailable.
Retrospective data
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ABL1 (ABL proto-oncogene 1) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • JAK2 (Janus kinase 2) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1)
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KIT mutation • KIT positive • KIT D816V
1year
Tasquinimod Improves Erythropoiesis and Mitigates Bone Loss in Myelodysplastic Mice (ASH 2023)
In conclusion, this study provides the first evidence for an in vivo effect of TASQ in a murine model of MDS, suggesting improved erythropoiesis and positive effects on the bone phenotype. These results warrant further investigations of TASQ in human trials, particularly in MDS patients in whom anemia and bone loss often coexist.
Preclinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • S100A9 (S100 Calcium Binding Protein A9) • TLR4 (Toll Like Receptor 4)
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KIT positive • S100A9 elevation
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tasquinimod (ABR-215050)
1year
New P4 trial
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KIT positive
1year
A Cross-sectional Partnership to Improve Prevention (clinicaltrials.gov)
P=N/A, N=1200, Recruiting, University of Nebraska | Not yet recruiting --> Recruiting
Enrollment open
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KIT positive
1year
Novel somatic Missense Mutations in Exon 11 of the KIT Gene are Detected in Melanoma. (PubMed, Asian Pac J Cancer Prev)
The six novel mutations reported in the present study expand our knowledge on the molecular pathogenesis of melanoma, which can be used to further explore methods to improve disease therapeutic strategies.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT mutation • KIT positive
1year
A phase II study on the efficacy of regorafenib in treating patients with c-KIT-mutated metastatic malignant melanoma that progressed after previous treatment (KCSG-UN-14-13). (PubMed, Eur J Cancer)
Regorafenib in second- or later-line settings demonstrated significant activity in patients with metastatic melanoma harbouring c-KIT mutations.
P2 data • Journal • Metastases
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT mutation • KIT positive
|
Stivarga (regorafenib)
1year
Toceranib phosphate and firocoxib-mediated partial response in a dog with advanced intranasal sarcoma. (PubMed, J Vet Med Sci)
After PR induction, TOC alone mediated survival for 205 days. This case report suggests that the combination of TOC and possibly firocoxib may be a therapeutic option for canine intranasal sarcoma.
Journal • Metastases
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KDR (Kinase insert domain receptor)
|
KIT positive
over1year
Ipilimumab and Imatinib Mesylate in Advanced Cancer (clinicaltrials.gov)
P1, N=68, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting
Enrollment closed • Metastases
|
KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT mutation • KIT positive
|
Yervoy (ipilimumab) • imatinib
over1year
Duodenal Gastrointestinal Stromal Tumor (ACG 2023)
Pre-operative control of bleeding by IR-guided embolization was a life-saving measure. Surgical resection is the preferred approach for localized tumors > 2 cm or with high-risk features, especially the ones presenting as emergencies.
Stroma
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule)
|
KIT positive
over1year
Long Term Follow-Up of a Challenging Case of Jejunal Gastrointestinal Stromal Tumor (ACG 2023)
The patient started Imatinib and remained on it for 4 years...Figure: Panel A shows neurofibromas on the abdomen in our patient. Panel B and C are CT scan images with arrows pointing to the jejunal gastrointestinal stromal tumor.
Clinical • Stroma
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1)
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KIT mutation • KIT positive • PDGFRA mutation
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imatinib
over1year
Jejunal Gastrointestinal Stromal Tumor: A Rare Cause of Acute Massive Gastrointestinal Bleeding (ACG 2023)
She received adjuvant chemotherapy with Imatinib and has remained symptom-free 10 months post-op...B : CTA Abdomen (coronal view) showing the hypervascular lesion in the proximal Jejunum. C : Jejunal tumor seen with uniformly shaped spindle cells with elongated nuclei, consistent with GIST D : Positive CD117 immunostaining of the GIST lesion.
Stroma
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • ANO1 (Anoctamin 1)
|
KIT positive
|
imatinib
over1year
Measuring Tumour Imatinib Concentrations in Gastrointestinal Stromal Tumours: Relevant or Redundant? (PubMed, Cancers (Basel))
Although imatinib accumulates in tumour tissue, no distribution pattern of imatinib in tumour tissue could be identified. There was no correlation between imatinib concentrations in tumour tissue and pathological treatment response.
Journal • Stroma
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KIT positive
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imatinib
over1year
Mucosal Schwann cell hamartoma: a benign and little-known entity. (PubMed, Rev Esp Enferm Dig)
GIST are more frequently located in the stomach and they are positive for c-kit. MSCH are not associated with hereditary syndromes such as neurofibromatosis and, in contrast with Schwanomas or GIST, they do not require surveillance because they are benign.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule)
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BRCA1 mutation • KIT positive
almost2years
A Case of Small Intestinal GIST Diagnosed by Intussusception (PubMed, Gan To Kagaku Ryoho)
According to the risk classification, the risk was evaluated as low. The patient is being followed-up in accordance with guidelines.
Journal
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CD34 (CD34 molecule)
|
KIT positive
2years
Adenoid Basal Carcinoma with Adenoid Cystic Carcinoma Component of the Uterine Cervix: A Case Report and Literature Review. (PubMed, Int J Surg Pathol)
Prognostic data on mixed tumors are scarce; however, given the aggressive nature of ACC, attention should be paid to the detection of mixed tumors. Since ABC and ACC histology may overlap, adequate sampling and IHC for detecting ACC would be helpful.
Review • Journal
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NKX3-1 (NK3 homeobox 1)
|
KIT positive
2years
Knockout of HMGA1 Promotes ATRA-Induced Differentiation in MLL-Rearranged Leukemia (ASH 2022)
Although HMGA1 might have little effect on normal hematogenesis, it seemed that HMGA1 had inhibitory effect on ATRA-induced differentiation process of MLL-ENL leukemic cells. Though more conditions including AML types and differentiation methods should be tested and the molecular mechanisms should be scrutinized, there is a possibility that inhibition of HMGA1 is effective in combination with differentiation treatments.
IO biomarker
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • BCL2 (B-cell CLL/lymphoma 2) • ITGAM (Integrin, alpha M) • HMGA1 (High Mobility Group AT-Hook 1) • MLLT1 (MLLT1 Super Elongation Complex Subunit)
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MLL rearrangement • KIT positive • JAK2 V617F • MYC-BCL2 fusion
2years
Case Report: Ewing's Sarcoma/Peripheral Primitive Neuroendocrine Tumor of the Pancreas (APA-Pancreatic 2022)
Extraosseous Ewing’s Sarcoma/Peripheral Primitive Neuroectodermal Tumors are aggressive, malignant tumors that can be found in various organs and soft tissues throughout the body, but extremely rarely in the pancreas. The “gold standard” for diagnosis is a molecular genetics evaluation for a chromosomal translocation between the EWSR1 gene on chromosome 22 and usually a ETS gene on chromosome 11, but other genes may be involved in about 10% of patients. Treatment is multimodal, based on the NCCN guidelines for soft tissue sarcomas, and involves surgical resection, systemic chemotherapy and/or radiation.
Clinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • EWSR1 (EWS RNA Binding Protein 1) • VIM (Vimentin) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • CD99 (CD99 Molecule)
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KIT positive
2years
Evolutionary Portrait of Adult Core-Binding Factor Leukemia Patients Treated with a Continuation Therapy with Midostaurin: Preliminary Results (ASH 2022)
Method Patients with de-novo CBFL received standard induction therapy with an anthracycline containing regimen ("7+3"-like) + Mido, three cycles of post-remission consolidation chemotherapy with high-dose cytarabine + Mido, and 12 months of Mido as Maintenance. Conclusion In patients with CBFL, we found FLT3 and/or KIT mutations actionable by a regimen consisting of intensive chemotherapy and Mido in 47% of cases. In two out of three relapsed cases the KIT mutation is maintained, although frequency of the mutant allele is lower at relapse, while all FLT3 and NRAS mutated patients lose the mutation upon disease relapse.
Clinical
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FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
|
NRAS mutation • FLT3-ITD mutation • FLT3 mutation • KIT mutation • KIT positive • CEBPA mutation
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Oncomine Myeloid Assay GX
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cytarabine • Rydapt (midostaurin)
2years
Preliminary Safety and Efficacy from Apex, a Phase 2 Study of Bezuclastinib (CGT9486), a Novel, Highly Selective, Potent KIT D816V Tyrosine Kinase Inhibitor, in Adults with Advanced Systemic Mastocytosis (AdvSM) (ASH 2022)
Patients with a history of prior TKI therapy (e.g., avapritinib, midostaurin) are permitted in the study. Early data suggest that bezuclastinib is well-tolerated and is associated with encouraging early signs of clinical activity as demonstrated by meaningful reductions in serum tryptase, MC burden, and KIT D816V VAF. Enrollment is currently ongoing. Updated safety and clinical activity as well as initial clinical objective response data will be presented.
Clinical • P2 data
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CSF1R (Colony stimulating factor 1 receptor)
|
KIT mutation • KIT exon 11 mutation • KIT exon 9 mutation • KIT positive • KIT D816V • KIT exon 17 mutation
|
Rydapt (midostaurin) • Ayvakit (avapritinib) • bezuclastinib (PLX9486)
over2years
Diagnostic Significance of Rare Colorectal Perineurioma Found on Colonoscopy: A Case Report (ACG 2022)
They do not recur after excision, and given their benign nature, do not require surveillance after polypectomy. Figure: Figure 1 A. Colonoscopy showing a 2-mm sessile rectosigmoid polyp, confirmed as a perineurioma on pathology B. Closer image of the same perineurioma, visualized using Narrow Band Imaging (NBI)
Clinical
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • NF1 (Neurofibromin 1) • ANO1 (Anoctamin 1)
|
KIT positive
over2years
A phase II study to evaluate the efficacy of regorafenib in C-KIT mutated metastatic malignant melanoma patients who have progressed on first-line treatment: A Multicenter Trial of Korean Cancer Study Group (UN-14-13) (AACR-NCI-EORTC 2022)
BackgroundC-KIT mutation is a therapeutic target for malignant melanoma, and C-KIT inhibitors such as imatinib have previously shown clinical efficacy. Further biomarker studies with circulating tumor DNA analysis are currently underway. No
Clinical • P2 data
|
KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT mutation • KIT positive
|
imatinib • Stivarga (regorafenib)
over2years
Efficacy of SCF drug conjugate targeting c-KIT in gastrointestinal stromal tumor. (PubMed, BMC Med)
rhSCF is a convenient and effective vector for drug delivery to KIT positive GIST cells. SCF-DM1 is an effective drug candidate to treat imatinib-sensitive and -resistant GIST.
Journal
|
KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT positive
|
imatinib
over2years
A duodenal gastrointestinal stromal tumor mimicking a pancreatic neuroendocrine tumor: a case report. (PubMed, J Med Case Rep)
Extraluminal duodenal gastrointestinal stromal tumors are rare and mimic pancreatic neuroendocrine tumors. Endoscopic ultrasound fine-needle aspiration is useful for preoperative diagnosis, but it is not possible in some cases. Intraoperative diagnosis based on a completely resected specimen of the tumor may be useful for modifying the surgical technique.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule)
|
KIT positive
over2years
Ipilimumab and Imatinib Mesylate in Advanced Cancer (clinicaltrials.gov)
P1, N=96, Recruiting, M.D. Anderson Cancer Center | Trial completion date: Feb 2022 --> Feb 2024 | Trial primary completion date: Feb 2022 --> Feb 2024
Trial completion date • Trial primary completion date
|
KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT mutation • KIT positive
|
Yervoy (ipilimumab) • imatinib
over2years
Huge esophageal gastrointestinal stromal tumor successfully resected under mediastino-laparoscopic transhiatal esophagectomy: a case report. (PubMed, Surg Case Rep)
Hybrid surgical procedure utilizing mediastino-laparoscopy might be useful for high-risk patient with esophageal tumors.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule) • ANO1 (Anoctamin 1)
|
KIT positive • CD34 positive
|
imatinib
over2years
Telocytes: Newly Discovered Interstitial Cells in the Human Female Internal Reproductive Organs - Identification of a Suitable Immunohistochemical Marker and Possible Significance in the Pathogenesis of Uterine Fibroids. (PubMed, FASEB J)
C-kit is the most suitable marker in the research of telocytes in the FRS. The loss of telocytes in the myometrium may have a role in the pathogenesis of uterine fibroids via three mechanisms: 1) hormonal imbalance, 2) stem cell dysregulation and 3) diminished angiogenesis. Therefore, therapeutic targeting of telocytes can be a potential future approach in the treatment of this condition.
Journal
|
ER (Estrogen receptor) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule) • VIM (Vimentin)
|
KIT positive • KIT expression
over2years
Circulating tumor DNA (ctDNA) analyses of the phase III VOYAGER trial: KIT mutational landscape and outcomes in patients with advanced gastrointestinal stromal tumor (GIST). (ASCO 2022)
Background: The genotype of primary mutations predicts imatinib response in untreated metastatic GIST...Regorafenib showed similar activity regardless of KIT mutational status and the location of KIT mutation... Hybrid capture-based plasma sequencing detects ctDNA in the majority of patients with advanced TKI-resistant GIST, including heterogeneity of KIT mutations. This study is the first to show that ctDNA sequencing correlates with outcomes in pretreated GIST. Identification of ABP (exon13/14) KIT mutations negatively correlates with avapritinib activity.
P3 data • Clinical • Circulating tumor DNA
|
KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
|
KIT mutation • KIT positive • PDGFRA mutation • KIT exon 17 mutation • KIT T670I • KIT V654A
|
Guardant360® CDx
|
imatinib • Stivarga (regorafenib) • Ayvakit (avapritinib)
over2years
A Case of Rectal GIST Resected using the TAMIS Method (PubMed, Gan To Kagaku Ryoho)
The histopathological diagnosis was low-grade GIST and immunostaining showed the tumor was positive for c-kit, CD34, DOG-1 and α-SMA. Because capsule of the GIST was damaged intraoperatively, imatinib therapy was started and she has no recurrence after 2 years.
Journal
|
KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule) • ANO1 (Anoctamin 1)
|
KIT positive
|
imatinib
almost3years
INFLUENCE OF C-KIT MUTATIONS ON PROGNOSIS FOLLOWING ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PEDIATRIC PATIENTS WITH CORE BINDING FACTOR AML WITH RUNX1-RUNX1T1 FUSION GENE (EBMT 2022)
The other two patients underwent total body irradiation (TBI) and received cyclophosphamide (CTX) and antilymphocyte globulin (ATG) regimens. Cyclosporine or tacrolimus, mycophenolate mofeil and short-course methorexate were the most frequently administrated graft versus-host disease (GVHD) prophylaxis regimens... Allo-HSCT is an effective therapy among high-risk CBF-AML pediatric patients positive for the RUNX1-RUNX1T1 fusion gene. However, we found that an additional D816 c-KIT mutation is strongly associated with a poor prognosis among these pediatric AML patients.
Clinical
|
KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1)
|
KIT mutation • KIT positive • RUNX1-RUNX1T1 fusion
|
cyclophosphamide • cyclosporine
almost3years
A Case of Gastrointestinal Stromal Tumor(GIST)of the Sigmoid Colon with Early Colon Cancer (PubMed, Gan To Kagaku Ryoho)
The patient was diagnosed with very low risk gastrointestinal stromal tumor(GIST). We encountered a rare case of early sigmoid colon cancer, complicated by sigmoid colon GIST.
Clinical • Journal
|
KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule) • CA 19-9 (Cancer antigen 19-9)
|
KIT positive
almost3years
Complete Response to Neoadjuvant Chemotherapy with Imatinib of a Large Gastric GIST-A Case Report (PubMed, Gan To Kagaku Ryoho)
Histopathologically, there were no viable tumor cells in the resected specimen. The patient has no evidence of recurrence at 8 months post operation.
Clinical • Journal
|
KIT (KIT proto-oncogene, receptor tyrosine kinase)
|
KIT positive
|
imatinib