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Validated All-in-One™ qPCR Primer for KIT(NM_000222.2) Search again
Product ID:
HQP010099
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
C-Kit, CD117, MASTC, PBT, SCFR
Gene Description:
KIT proto-oncogene, receptor tyrosine kinase
Target Gene Accession:
NM_000222.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene References into function
- a tumor marker for cardiac myxoma
- The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors.
- Phosphatidylinositol 3-kinase and Src family kinases are required for phosphorylation and membrane recruitment of Dok-1 in c-Kit signaling.
- Mutations of c-KIT causing spontaneous activation of the KIT receptor kinase are associated with sporadic adult human mastocytosis (SAHM) and with human gastrointestinal stromal tumors.
- role of c-KIT mutations in the biology of mast cell malignancies
- We have shown for the 1st time that CD117 is expressed at a much higher level in AML myeloblasts than in normal myeloid precursors.
- REVIEW: Signal transduction though the KIT pathway in mast cells and involvement in MC activation and mediator release.
- all classes of interstitial cells of Cajal express CD117, thus it serves as a marker for gastrointestinal stromal tumors (GIST) derived from these cells; mutations in CD117 or aberrations of chromosome 4 are often found in GIST - review
- Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene.
- Asn(822)-Lys mutation affecting a highly conserved codon within the tyrosine kinase activation loop leading to constitutive ligand-independent activation of the KIT receptor was identified in the Kasumi-1 cell
- essential role for c-Kit in KS tumorigenesis
- c-Kit-expressing Ewing tumor cells are resistant to imatinib mesylate.
- Mutations were not detected in over 100 normal individuals and are likely to be the cause of piebaldism in our subjects.
- findings demonstrate a unique KIT sequence and expression pattern among mediastinal seminomas; KIT sequencing may assist in differentiating primary from metastatic MS
- stem cell factor has "late" effects on fetal hemoglobin modulation during erythropoiesis, related to the expression pattern of CD117.
- the SCF-c-kit system, possibly with the contribution of mast cells, may have a growth-regulating role in the normal pancreas, which is altered during malignant transformation.
- Data show that the adapter protein APS preferentially associates with phosphorylated Tyr-568 and Tyr-936 of the receptor for stem-cell factor (c-Kit).
- Fibroblat-like cells lacking this protein express SK3 in smooth gut muscle in health and dissease.
- c-kit gene mutation may play a significant role in the pathogenesis of GIST and also may be a prognostic marker.
- KIT isoforms have remarkable differences in their signaling capabilities
- KIT and PDGFRA mutations appear to be alternative and mutually exclusive oncogenic mechanisms in gastrointestinal stromal tumors
- KIT could be a useful marker for chromophobe renal cell carcinomas
- Point mutations in c-Kit in core binding factor leukemias correlate with white blood cell count and the white blood cell index
- Point mutation may be associated with urticaria pigmentosa in children.
- c-kit+ cells were found in glomeruli and interstitium. Colocalization of CD34+ and c-kit+ was seen in some rounded interstitial and spindle-shaped cells. This shows potential involvement of SCF/c-kit in crescentic glomerulonephritis.
- overexpression of the c-kit protein is associated with large cell neuroendocrine carcinoma of the lung
- gain-of-function mutation in exon 11 of the c-kit gene is an important prognostic factor for gastrointestinal mesenchymal tumors, including myogenic and neurogenic tumors as well as GISTs
- overexpression of c-KIT is associated with extensive-stage small-cell lung carcinoma
- Mutations of the c-kit gene is associated with testicular germ cell tumors
- types of mutations in sinonasal NK/T cell lymphoma in northeast district of China
- c-Src phosphorylates the receptor KIT, thereby creating docking sites for SH2 domain containing proteins, leading to recruitment of Crk to the receptor.
- Mutations and deletions in c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors
- surface expression of c-Kit is regulated by TACE, which controls mast cell survival
- the presence of c-Kit and VEGF overexpression is associated with the presence of second primary tumors in patients with melanoma; overexpression of c-Kit is more likely to be seen in the superficial spreading type
- tr-kit promotes the formation of a multimolecular complex composed of Fyn, PLCgamma1 and Sam68, which allows phosphorylation of PLCgamma1 by Fyn, and may modulate RNA metabolism.
- findings of co-expression of KIT and/or FMS with their respective ligands implies these receptors might contribute to leukemogenesis in some patients with AML through autocrine, paracrine, or intracrine interactive stimulation.
- c-kit overexpression observed in a subset of colorectal neuroendocrine carcinomas may not be mediated via activating mutations, and does not appear to be an initiating event during tumorigenesis
- This result suggests that the loss of expression of this protein might correlate with malignant breast cancer progression, but it is most likely involved at an early stage of human breast cancer development.
- KIT expression is a rare event in multiple myeloma and not detectable in monoclonal gammopathy of undetermined significance and lymphoplasmacytic lymphoma
- activating KIT mutations may contribute to tumorigenesis in a subset of seminomas, but are not involved in non-seminomatous germ cell tumors.
- kit expression likely identifies a subset of neuroblastomas with conserved capacity for differentiation, which may represent the embryonal variety of the disease
- results confirm the high frequency of BCR-ABL kinase domain mutations in patients with secondary resistance to imatinib and exclude mutations of the activation loops of KIT, PDGFRA and PDGFRB as causes of resistance in patients without ABL mutations
- ligand-activated KIT and platelet-derived growth factor receptor beta tyrosine kinase receptors are expressed in synovial sarcoma
- involvement of c-Kit receptor in the regulation of leukemic myeloblasts egress to the peripheral blood
- c-kit expression was demonstrated in all 11 sarcomas of the uterus regardless of histologic type
- c-KIT is expressed in ovarian carcinoma and it is statistically correlated with chemotherapy resistance.
- In mammary phyllodes tumors, there was increasing c-kit expression with increasing degree of malignancy.
- High eexpression level of both mutated and wild-type allele transcripts of c-kit suggests that interactions between spontaneously activated and normal c-kit receptors are important in GIST tumorigenesis.
- Study demonstrates that the expression pattern and one mutation of c-kit may distinguish papillary renal cell carcinomas.
- CD117 immunoreactivity identifies a peculiar subset of stage I adenocarcinoma and squamous cell carcinoma of the lung with highly proliferative tumors and may have prognostic relevance in adenocarcinoma patients.
- Data show that c-kit gene mutations occur preferentially in malignant gastrointestinal stromal tumors and might be a clinically useful adjunct marker in their evaluation.
- acquisition of autonomous growth during uveal melanoma progression may involve the SCF/c-Kit axis
- KIT mutations were found in 14 (50%) gastrointestinal stromal tumors (GISTs), the majority being within exon 11, and the other comprised exon 9 AY 502-503 duplications and exon 17 Lys --> Aln822 missense mutations.
- gastrointestinal stromal tumors have distinct kit expression depending on genotype and tumor location
- c-kit mutation may account for the transient bone marrow mastocytosis in chronic myelogenous leukemia.
- These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.
- neither c-kit nor its mutational status have a role in progression of small cell lung cancer
- Kit mutatation is associated with gastrointestinal mesenchymal tumors.
- Human vascular smooth muscle cells (SMCs) express stem cell factor (SCF) and its receptor, c-kit. SCF/c-kit signaling may affect SMC function via an autocrine pathway.
- c-Kit makes both kinase-independent and -dependent contributions to the proliferative synergy induced by SCF in combination with GM-CSF
- The activated KIT in turn induces phosphorylation and activation of Cbl proteins
- gene expression profiling of 26 gastrointesstinsal stromsal tumors with known KIT and PDGFRA mutational status
- induction of Slug by autocrine production of SCF and c-Kit activation plays a key role in chemoresistance of malignant mesothelioma
- KIT gene is activated in Acute myeloid leukemiea characterized by distinct cytogenetic and molecular genetic patterns.
- mutations of specific residues located in the activation loop (D835X and 836-deletion in Flt-3; D816V in c-Kit) as well as a 6-base pair (6-bp) insertion at residue 840 in Flt-3 operate in a similar way
- c-kit expression could also be added to the immunoprofile in the diagnosis of adenoid cystic carcinoma of the breast.
- c-kit gene mutations is associated with intracranial germinomas
- A significant proportion (27%) of small cell carcinomas of the urinary bladder expressed c-kit, suggesting that it may prove useful as a therapeutic target in small cell carcinoma of the urinary bladder.
- mast cells and lymphocytes within focal aggregates of bone marrow from mastocytosis are frequently positive for the codon 816 activating mutation of kit
- gastrointestinal stromal tumors show KIT gene deletions at the intron 10-exon 11 boundary
- CD117 is expressed on plasma cells in monoclonal gammopathies
- Kit is an human oncogenic tyrosine kinase [review]
- c-kit expression may be a good prognostic indicator for HCC.
- KIT exon 8 mutations represent gain-of-function mutations
- c-kit expression may be an early event in the transformation of Merkel cell carcinoma, but not a marker for tumor progression.
- review of the "two hits" model of leukemogenesis exemplified by c-kit gene mutations in the Kasumi-1 cell line and the effect of tyrosine kinase kit mutant on the main KIT-regulated signal transduction pathways
- Overexpression and phosphorylatiom of kit receptor is associated with small cell lung cancer
- c-kit may have a role in development of neuroblastic tumors
- High sensitivity of the imatinib-resistant KIT -T670I and KIT -V654A and of PDGFRA -D842V mutants to PKC412 in gastrointestinal stromal tumors.
- expression of c-kit mRNA and c-kit protein significantly decreased in the colon of slow-transit constipation (STC), suggesting that the c-kit signal pathway may play an important role in interstitial cells of Cajal reduction in STC
- Capability of Imatinib to induce an anti-leukemic effect in Core Binding Factor (CBF)-leukemia patients with KIT mutation.
- KIT gene was expressed in 6/7 chromophobe RCCs and 7/8 oncocytomas while 0/15 clear cell RCCs and 1/15 papillary RCCs expressed kit gene.
- study demonstrates that platelet-derived growth factor receptor alpha and beta, and c-kit protein are expressed in a high percentage of epithelial ovarian cancers
- found a significant elevation of c-kit protein messenger RNA and protein overexpression not only in chromophobe renal cell carcinomas but also in oncocytomas
- Homozygous point mutation in c-KIT exon 9, codon 456 in pediatric gastrointestinal stromal tumor.
- KIT overexpression in GISTs is rarely related to a gene amplification.
- The point mutations of c-kit and platelet- derived growth factor receptor alpha genes may play a limited role in the tumorigenesis of type 1 neurofibromatosis-associated gastrointestinal stromal tumors.
- C-kit mutation is undoubtedly pivotal event in gastrointestinal stromal tumors and may be associated with poor prognosis. Evaluation of C-kit gene mutation may have both prognosis and therapeutic significances.
- REVIEW of KIT-positive neoplasms and disruption of KIT-dependent functions caused by KIT deficiency due to hereditary nonsense/missense mutations
- Familial gastrointestinal stromal tumors and mastocytosis caused by a germline mutation in KIT.
- The KIT-phosphatidylinositol 3-kinase-Akt protein pathway is constitutively activated in testicular germ cell tumors, due to overexpression of KIT protein and/or gain-of-function mutations in the c-kit gene.
- The mutation of V604I of KIT gene is the cause of clinical phenotype of the family with piebaldism.
- The expression levels for c-Kit are high for Schwann cells derived from MPNST of neurofibromatosis type 1 tumors patients.
- The absence of mutations in exon 17 of CD117+ SCLC suggests this tumour may respond to therapy with tyrosine kinase inhibitors
- CD117 expression can be detected sporadically in DLBCL (diffuse large B-cell lymphoma) of follicle center-cell origin and a subset of plasmablastic lymphomas.
- CD117 is expressed in Thai adult patients with acute myeloid leukemia
- A disease with striking similarities to human mastocytosis develops spontaneously in transgenic mice expressing the human Asp816Val mutant Kit protooncogene specifically in Mast Cells.
- describes frequence mutation of PDGFRA in malignant periphaerl nerve sheath tumors often associated with coamplification of KIT
- activating mutations of PDGFR-alpha, c-kit and B-RAF are absent in gliosarcomas
- findings suggest that the expression of c-KIT protein might define a subset of poorly differentiated, HER-2-positive ductal carcinoma in situ of the breast with decreased expression of steroid hormone receptors, comedonecrosis, and a solid growth pattern
- KIT protein was diffusely and weakly expressed, but DNA analysis revealed no mutational change in exon 9 or 11 of the c-kit gene.
- 7 out of 20 patients carried missense mutations in the c-Kit gene in polycythemia vera whereas no sequence variation was detected in 15 healthy controls.
- Only one case (1/13, 7.7%) of serous cystadenocarcinoma had positive staining, and no mutation was identified at exon 11.
- Genetic abnormality in the KIT gene, particularly at codon 816, might contribute to the progression of myelodysplastic syndromes to acute myelocytic leukemia.
- Results show that the identification of newly acquired KIT mutations in addition to the primary mutation is dependent on the number of tissue samples analyzed and has high implications for further therapeutic strategies.
- rapamycin induction of apoptosis appears specific to the C-Kit D816V mutation in systemic mastocytosis
- Approximately one-third of plasma cell myeloma express high levels of c-kit.
- KIT mutations, especially deletions in exon 11, are markers of poor prognosis for gastric intestinal stromal tumors.
- a KIT mutation in mast cells and other bone marrow hematopoietic cell lineages may have a role in systemic mast cell disorders
- receptors alphaGMR and c-Kit could interact to coordinate their signal initiation; alphaGMR inhibited c-Kit auto-phosphorylation induced by the ligand stem cell factor
- Activated mutations of kit exon 11 are detectable in the vast majority of gastrointestinal stromal tumor (GISTs). There is no difference in the PR rate for patients whose GISTs have kit exon 9 and exon 11 mutations.
- A study evaluating the mechanisms by which Cbl negatively regulates c-Kit-mediated signalling is presented.
- putative quadruplex forming 21-nucleotide sequence upstream of the c-kit transcription initiation site (c-kit21), on the G-rich strand, which occupies a site required for core promoter activity. c-kit21 forms quadruplexes under physiological conditions.
- Gastrointestinal stromal tumours (GIST) with platelet-derived growth factor receptor mutations often have reduced expression of the KIT protein in immunohistochemistry (IHC), suggesting that IHC may be potentially useful in identification of such GISTs.
- a KIT exon 13 mutation may have a role in resistance to imatinib in gastrointestinal stromal neoplasms
- Positivity of CD117 and CD34 is the most valuable factor in diagnosing gastrointestinal stromal tumor (GIST).
- identified a tandem repeat involving exons 11 and 12 in childhood AML that induces cell proliferation, and identified constituitively activated pathways and proteins phosphorylated
- KIT mutations involving exons 11 or 9 were identified in 22 (88%) of gastrointestinal stromal tumours (GISTs) and none of the non-GISTs
- Our data indicate that the KIT/KITLG system may be involved in a low sperm count trait in humans.
- C-kit gene mutations were frequently found in patients with large GIST, more commonly in men than in women. However, the presence of a mutation was not predictive of prognosis in patients with large GIST.
- study showed that c-kit is expressed in some osteosarcomas but protein expression is not of predictive value for the outcome of osteosarcoma patients; mutations in exon 9 & exon 11 of c-kit gene were not detected in the group showing protein expression
- Acquired resistance of GIST to imatinib mesylate appears to be linked to a novel mutation in Proto-Oncogene Proteins c-kit.
- intracellular, non-plasma membrane receptor signaling is sufficient to drive neoplasia caused by mutant c-KIT
- Patients with an exon 11 mutation of the c-kit gene are reported to have a high response to STI571 (imatinib mesylate, Glivec).
- fragile histidine triad and c-kit have roles in progression of fragile histidine triad and c-kit
- a kit mutation may have a role in survival or proliferation of melanocytes from patients with piebaldism
- KIT mutations in GIST are clustered in four exons. Most common are exon 11 mutations .Secondary mutations usually occur in KIT kinase domains in patients after imatinib treatment resulting in resistance to this drug.
- A potential role of the c-Kit/mbKitL interaction in pathological settings is sustained by the expression of the membrane-bound KitL on endothelial cells lining intraplaque neovessels.
- c-kit activating mutations are not coincident with KIT protein expression in Ewing sarcoma in most samples
- The expression of KIT protein in normal human skin suggests its possible role in regulation of cutaneous development and function.
- KIT may have a significant role in the oncogenesis of mesenchymal tumours of the uterus and ovary.
- Results suggest that a subset of anal melanomas show activating KIT mutations, which are susceptible for therapy with specific kinase inhibitors.
- Genomic alterations were present at disease onset in 1/3 of the examined cases. They therefore represent an early event possibly related to primary imatinib resistance in gastrointestinal stromal tumors.
- Overexpression of c-KIT is observed in a subset of primary and CRC metastases in the absence of c-kit mutations.
- These findings indicate that KIT-ht3 may be a useful genetic marker for osteoporosis and that KIT may have a role on bone metabolism in humans.
- the MAGE-A3 and MAGE-C2 gene promoter regions are de-methylated in the presence of activated KIT but become methylated on inhibition of KIT, consistent with the downregulation of mRNA and protein
- Phosphorylation of c-Kit receptor may be involved in mediating early beta-cell differentiation and survival.
- N822 mutation of KIT gene is frequent in pediatric acute myeloid leukemia patients with t(8;21) in Japan
- A sensitive, specific and cost-effective assay to detect the D816V mutation in archived formalin-fixed paraffin-embedded tissues from cases of SM has been developed.
- GISTs were commonly associated with KIT mutation, but rarely associated with PDGFRA mutation in Taiwan.
- KIT and PDGFRbeta gatekeeper mutations are involved in tumor progression and are resistant to imatinib, but are inhibited by sorafenib
- Gastrointestinal stromal tumor secondary KIT mutations can be associated with KIT hyperactivation and imatinib resistance.
- Point mutations of the C-KIT gene, in mastocytosis, were discovered in the bone marrow and the peripheral blood of the patient, abd in the tissue of the previously diagnosed germ cell tumor as well.
- Further understanding of KIT signaling in testicular germ cell tumors may lead to novel therapeutic approaches for these tumours.
- shows a major function of FES downstream of activated KIT receptor and thereby points to FES as a novel target in KIT-related pathologi
- Finds that fifty-seven percent of GIST had mutations at exon 11 of c-KIT gene. Finds no mutations at exons 9, 13, and 17 of KIT gene.
- Presence of homozygous KIT exon 11 mutations is associated with malignant course of disease and should be considered an adverse prognostic marker in gastrointestinal stromal tumors.
- The size of the mucosal mast cell (MC) population in patients with inactive inflammatory bowel disease (IBD) is not altered by disease or by stress, yet MC in IBD are different (fewer c-kit receptors) and respond differently (greater activation).
- This study evaluated ISCK03 as a skin-whitening agent that regulates c-kit activity.
- Gastric gastrointestinal stromal tumors have a lower expression of KIT compared to intestinal GISTs.
- Adult intestine contained c-Kit positive immune precursor cells committed to the natural killer cell lineage.
- Dysregulated kit function is an important component of oncogenesis in a large number of neoplastic disorders, including systemic mastocytosis.
- Systemic mast cell activation disorder was pathogenetically characterized by two or more alterations in the Kit tyrosine kinase providing not only a means of confirming the diagnosis, but also of assessing prognosis.
- The 22-nt c-kit87 promoter sequence possesses distinctive three-dimensional structural features that are only present in at most a handful of other genes.
- The frequency of KIT overexpression in gliomas was assessed and the genetic mechanisms underlying KIT overexpression were investigated.
- CD117 (c-kit) is aberrantly expressed on a subset of MGUS and MM with a more indolent presentation and is functionally antinomic to CD221 (IGF-1R).
- The incidence of both KIT and PDGFRA mutations in a Portuguese series was 63%. The great majority of mutations were located in KIT exon 11, statistically associated with worse prognosis and indicative of favourable response to imatinib-based therapy.
- VEGF receptor Flk-1 is involved in c-kit up regulation via ERK-mediated pathway
- Early myeloid cells expressing GNNK+ or GNNK-c-KIT show different responses to stem cell factor.
- Our study suggests that KIT activating mutations in AML with t(8; 21) are associated with diminished CD 19 and positive CD56 expression on leukemic blasts and, thus, can be phenotypically distinguished from AML1-ETO leukemias
- Loss of heterozygosity of the c-kit gene in resected liver Gastrointestinal Stromal Neoplasms may be a helpful factor in the prediction of the prognosis of patients with liver metastasis.
- Grb2 mediates c-Kit degradation through recruitment of Cbl to c-Kit, leading to ubiquitination of c-Kit followed by internalization and degradation.
- study shows that pediatric KIT-wild-type gastrointestinal stromal tumors (GIST) exhibit KIT activation at levels comparable with KIT-mutant pediatric and adult GISTs although they do not have KIT (or PDGFRA) mutations
- Increased C-kit intensity is associated with acute myeloid leukemia
- Frequently mutated in seminoma germ cell tumors, but not associated with bilateral disease as opposed to unilateral.
- Endogenous KIT and beta-catenin were found to associate in mast cell leukemia cells, and in vitro kinase assay demonstrated that active KIT phosphorylates tyrosine residues of beta-catenin directly.
- c-KIT but not CSF1R mutations play a role in the leukemogenesis of childhood CBF-AML
- KIT overexpression is rare in Wilms' tumours, although it appears to confer a worse prognosis; clear cell sarcomas of the kidney are associated with an increased expression of KIT, however, in the absence of gene amplification and/or activating mutation
- study found low frequency of KIT gene mutation in pediatric acute myeloid leukemia with inv(16)(p13q22)
- Whereas FcvarepsilonRI required Lyn and Syk for NTAL phosphorylation, Kit appeared to directly phosphorylate NTAL
- Presence of c-kit gene mutations in testicular germ cell tumours may not be associated with bilateral diseases, at least in Japan.
- Four mixed cell-type GISTs showed somatic KIT mutations... mixed cell-type GISTs
- C-kit protein expression correlated with activating mutations indicating the pertinent role of the proto-oncogene KIT in the tumorigenesis of oral musosal melanoma.
- Silent mutations of KIT and PDGFRA were found in Merkel cell carcinoma that have the potential to lead to alternate protein function.
- These data suggest that KIT(D816V+) systemic mastocytosis (SM) can co-exist with JAK2(V617F+) chronic idiopathic myelofibrosis (CIMF) and in some of these SM-CIMF cases, the two mutations are present in the neoplastic cells of both disease components.
- study shows a novel germline mutation in the juxtamembrane domain of KIT, identified in 2 brothers, both presenting with recurrent, high risk/malignant rectal gastrointestinal stromal tumors
- Pancreatic adenocarcinoma does not express CD117 antigen/KIT as assessed using a primary immunohistochemical antibody for CD117/KIT detection
- CD117 proved to be a very sensitive marker of Atypical fibroxanthoma
- The computational results presented here indicate that the dissociation of juxtamembrane region from the kinase domain is prerequisite to c-Kit activation, which is consistent with previous experiments.
- Production of the soluble form of KIT, s-KIT, abolishes stem cell factor-induced melanogenesis in human melanocytes.
- c-Kit positive cardiosphere-forming cells were isolated from biopsy samples from patients with ischemic heart disease.
- evaluate the clinicopathologic profile of GISTs that have KIT exon 13 or exon 17 mutations.
- Exon 11 mutation of CD-117 is associated with gastrointestinal stromal tumor
- c-kit protein expression may play an important role in neoplasia of pancreatic neoplasms.
- C-kit oncogenic mutations are more likely seen in CD-117-positive GISTs arising in the gastrointestinal tract and have no obvious relationship with biological behavior of GISTs.
- Additional cis-positioned mutations in the kinase domains of the KIT gene are a major cause of secondary resistance to imatinib in Japanese gastrointestinal stromal tumor patients.
- KIT genotyping is important for gastrointestinal stromal tumours diagnosis and assessment of sensitivity to tyrosine kinase inhibitors.(Review)
- may be mutated in gastrointtestinal stromal tumors.
- KIT mutation D816V is associated with relative resistance against imatinib therapy in mastocytosis.
- Immunohistochemical CD117 positivity was detected in a wide range of neoplastic and inflammatory thyroid diseases.
- Data show that KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.
- When critically applied, CD117/PDGFRA immunophenotyping is a useful diagnostic tool correctly predicting the presence of PDGFRA mutations in most cases.
- a second c-kit mutant model for t(8;21) AML.
- study found the KIT D816V variant induces cluster formation & expression of several mast cell differentiation & adhesion antigens; it is hypothesized that KIT D816V as a single hit may be sufficient to cause indolent systemic mastocytosis
- c-kit activating mutations have a role in determining the pathogenesis of mastocytosis, which significantly differs according to the age at disease's onset
- GIST-type KIT mutations induce an activation-dependent alteration of normal maturation and trafficking, resulting in the intracellular retention of the activated kinase within the cell.
- Significant correlation between c-Kit mutations, on the one hand, and tumor site and histological pattern of GastroIntestinal Stromal Tumors (GIST), on the other.
- CD300a as a novel regulator of Kit in human MC and suggest roles for this receptor as a suppressor of Kit signaling in MC-related disorders.
- Subepicardial localization of CD117-positive cells and expression of laminin-1 and alpha(6) integrin subunits may all correspond to the activation of regeneration involving an epithelial-mesenchymal transition in adult heart
- c-Kit expression in multiple myeloma cells is functional, and coupled to survival pathways that may modulate cell death in response to therapeutic compounds used in the treatment of this disease
- overexpression of KIT does not indicate gene mutation in thymic carcinoma.
- The mechanism of the second hit resulting in homozygous KIT-activating mutation and loss of heterozygosity is achieved by mitotic nondisjunction.
- C-kit has neither a diagnostic nor a prognostic role in phyllodes tumors.
- Elevated p21 expression is associated with poor prognosis of rectal stromal tumors after resection.
- Mutations in the c-kit gene result in the constitutive ligand-independent activation of the c-KIT receptor and, consequently, aberrant cell division and tumor growth
- in normal conditions, c-kit may be involved in the pituitary-adrenal axis regulation
- Data show that Lnk bound directly to c-Kit through Tyr(568) on juxtamembrane domain of c-Kit.
- Using a semi-quantitative immunohistochemical score we found that KIT expression was very weak in the majority of tumors, while none of the uterine sarcomas tested showed strong expression
- KIT gene mutations in exon 11 are associated with gastrointestinal stromal tumor
- The low or lacking c-kit expression in undifferentiated thyroid carcinoma together with the lack of mutations argue against a crucial role of c-kit in thyroid carcinoma cell proliferation.
- co-overexpression of KIT/CDK4 is a potential mechanism of oncogenic transformation in some BRAF/NRAS wild-type melanomas
- Alveolar capillary dysplasia: absence of CD117 immunoreactivity of putative hemangioblast precursor cells is reported in two fatal cases.
- activation of PI3K by c-Kit is dependent both on the direct PI3K-binding site in c-Kit and on the phosphorylation of Gab2.
- KIT codon 558 insertions might indicate an increased risk of malignant behavior for gastric gastrointestinal stromal tumors.
- Describe familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y.
- Multiple sporadic gastrointestinal stromal tumors of the proximal stomach are caused by different somatic KIT mutations suggesting a field effect.
- increased KIT signalling with up-regulation of cyclin D is suggested as the basis for the unfavourable clinical course in GISTs with KIT exon 11 deletions.
- there is a high expression of EGFR and/or c-kit in basal-like breast carcinoma in this series from Uganda and their expression is associated with features of poor prognosis.
- In a series of human AMKL samples from both Down syndrome and non-Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients.
- alternate splicing yields truncated KIT which may alter signal transduction pathways and play a role in mast cell malignancies
- Similar novel KIT transcripts lacking domains were observed in mast cell malignancies and in normal CD34+ cells
- Data show that patients with osteosarcomas with higher c-kit protein expression levels were significantly more likely to experience local disease recurrence and had a significantly lower survival time than patients with lower c-kit expression.
- Systemic mastocytosis involving the gastrointestinal tract is associated with the usual D816V KIT mutation
- KIT and FLT3 mutations preferentially exist in distinct clinical and genetic acute myeloid leukemia subtypes, reflecting unique leukemogenetic mechanisms.
- Our findings confirm that KIT mutations are most common in acral and mucosal melanomas but do not necessarily correlate with KIT copy number or CD117 expression.
- absence of C-KIT expression in salivary gland carcinomas.
- Co-expression of KIT and SCF in a high percentage of MCC tumors hints to an autocrine mechanism. KIT and SCF expression in primary tumors and in metastases suggests an early event in Merkel cell transformation.
- KIT mutations can be found in a subset of patients with mucosal melanomas irrespective of the location of the primary tumour
- No correlation between the pretherapeutic PDGFRbeta and c-kit mRNA expression in colon cancer treaeted with cetuximab.
- Rational targeting of KIT in melanoma offers a unique and potent clinical opportunity
- mir-221 can directly interact with c-kit 3'UTR and inhibit cKit protein translation.
- none of the large, bizarre, or anaplastic cells in 14 cases of atypical fibroxanthoma demonstrated expression with CD117
- This combination of in vitro and molecular modeling analyses shows why, among all possible amino acid substitutions at position 670 of KIT, only Ile is naturally selected as a resistance mutant in imatinib-treated GIST patients.