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GENE:

KIT (KIT proto-oncogene, receptor tyrosine kinase)

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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
20h
Clinicopathological and molecular characteristics of extraskeletal myxoid chondrosarcoma: an analysis of sixteen cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
FISH detection of NR4A3 gene rearrangements provides a crucial value for the diagnosis. It needs to be differentiated from myoepithelial tumors, chordomas and myxoid liposarcomas.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • EWSR1 (EWS RNA Binding Protein 1) • CD34 (CD34 molecule) • NR4A3 (Nuclear receptor subfamily 4 group A member 3) • VIM (Vimentin)
20h
Clinicopathological and molecular features of acquired cystic disease-associated renal cell carcinoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
ACD-RCC is a rare renal cell carcinoma that occurs in patients with end-stage renal disease and has unique morphological features. It is often associated with favorable prognosis and alterations in genes related to the MTOR/TSC pathway or chromatin modification.
Journal
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ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KMT2C (Lysine Methyltransferase 2C) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • MME (Membrane Metalloendopeptidase) • KMT2B (Lysine Methyltransferase 2B) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8) • TFEB (Transcription Factor EB 2)
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TP53 mutation
2d
Human type-1 innate lymphoid cells control leukemia stem cell differentiation and limit acute myeloid leukemia development. (PubMed, Nat Commun)
We also identify a human ILC1 subset as Lin-CD127+CD161-CRTH2-CD117- (CD161- ILC1s) that can be generated from umbilical cord blood CD34+ hematopoietic stem cells. This method could provide a reliable source of ILC1s for potential adoptive transfer therapies in AML, offering a therapeutic approach to prolong disease-free survival in AML.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • IFNG (Interferon, gamma) • CD38 (CD38 Molecule) • CD34 (CD34 molecule) • IL7R (Interleukin 7 Receptor) • KLRB1 (Killer Cell Lectin Like Receptor B1) • PTGDR2 (Prostaglandin D2 Receptor 2)
2d
To screen or not to screen: complexity of SDHA mutation management. (PubMed, Endocr Oncol)
These cases underscore the importance of interpreting SDHA variants carefully, as the identification of germline SDHA variants does not always indicate the need for aggressive surveillance or intervention. Germline SDHA variants increase the risk of PPGLs and wild-type GISTs.The penetrance of germline SDHA variants in carriers without an SDHA-related tumour is low.Careful clinical assessment is essential to determine if a patient with an SDHA germline mutation has an SDHA-related tumour.This is particularly complex in GISTs, as only wild-type GISTs (those without somatic variants in c-Kit or PDGFRA) are likely to be SDHA-related.Immunohistochemistry for expression of SDH subunits can help clarify whether a tumour is related to SDHA variants.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
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PDGFRA mutation
2d
Primordial germ cell-like cells residing in the pituitary may serve as the origin of intracranial germ cell tumors. (PubMed, Sci Rep)
These results support the existence of PGC-like cells that within the normal pituitary gland. This study provides new insights into the cellular origins of iGCTs and suggests further investigation into the regulatory mechanisms that may lead to tumorigenesis.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • POU5F1 (POU Class 5 Homeobox 1)
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POU5F1 expression
3d
Clinicopathologic and Immunohistochemical Correlates of Disease-Free Survival in Endometrial Stromal Sarcomas: A Multicenter Retrospective Study From 2017 to 2025. (PubMed, J Clin Med Res)
Beyond histological grade, proliferative signaling and M2 macrophage polarization strongly influence recurrence risk in ESS. These findings highlight potential diagnostic and therapeutic targets, suggesting integration of immune and cell-cycle biomarkers into future risk stratification models.
Retrospective data • Journal
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ER (Estrogen receptor) • PGR (Progesterone receptor) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CD163 (CD163 Molecule) • CD34 (CD34 molecule) • FOXP3 (Forkhead Box P3)
4d
Extraluminal inflammatory fibroid polyp mimicking as wandering fibroid/GIST. (PubMed, BMJ Case Rep)
Extraluminal cases of IFPs are extremely rare in the literature. Recognising these unusual cases is crucial to prevent misdiagnosis, guide proper surgical management and reassure patients about their prognosis.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
4d
High-grade malignant peripheral nerve sheath tumor of the esophagus: a rare case highlighting the diagnostic value of immunohistochemistry. (PubMed, J Surg Case Rep)
This case report presents a highly unusual case of a primary high-grade malignant peripheral nerve sheath tumor (MPNST) of esophagus, a neoplasm of extreme rarity, with fewer than twenty histologically confirmed cases reported worldwide to date; detailing the successful management of this tumor through Orringer's transhiatal esophagectomy, complemented by comprehensive histopathologic and immunohistochemical evaluation. Our report emphasizes the crucial the role of immunohistochemistry, specifically the diagnostic value of S100, SOX10, and the exclusion of gastrointestinal stromal tumors markers (DOG1, CD117) in distinguishing MPNST, from morphologically similar esophageal submucosal tumors.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • SOX10 (SRY-Box 10) • ANO1 (Anoctamin 1)
4d
Prognostic value of flow cytometry in myelodysplastic neoplasms (MDS): Composition of a FCM-prognostic score (FCM-PS) for overall survival. (PubMed, Hemasphere)
Validation of the prognostic FCM-PS in an independent patient cohort confirmed good discrimination performance (AUC: 0.70). We introduce a unique, easy-to-use prognostic FCM-PS score (panel: CD45/CD34/CD117/CD33/CD19/CD123/HLA-DR) for OS in MDS, allowing refined risk stratification for IPSS-R subgroups.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD33 (CD33 Molecule) • CD34 (CD34 molecule) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • IL3RA (Interleukin 3 Receptor Subunit Alpha)
5d
New P2/3 trial
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
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KIT exon 9 mutation
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Stivarga (regorafenib) • NB003
6d
New trial
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • ANO1 (Anoctamin 1)
7d
Intra-abdominal Desmoid Tumors Mimicking Gastrointestinal Stromal Tumor (GIST) Recurrence: A Case Report. (PubMed, Cureus)
We report a case of a 60-year-old male who developed intra-abdominal desmoid tumors five years after undergoing laparoscopy and endoscopy cooperative surgery (LECS) for gastric GIST, followed by adjuvant imatinib therapy...Histopathological confirmation remains crucial for accurate diagnosis. Surgical resection is the primary treatment for symptomatic desmoid tumors, but given their high recurrence rate, long-term follow-up and a multidisciplinary approach are essential for optimal management.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CD34 (CD34 molecule)
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imatinib