t(8;17)(p11;q25) ?/FGFR1
2008-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Chronic myelogenous leukemia-like (CML-like) disease without BCR-ABL1 rearrangement
Epidemiology
Only one case to date, a 29 year old female patient (Lewis et al., 1987; Sohal et al., 2001).
Clinics
The patient presented with a CML-like disease with systemic mastocytosis, in transformation to an aggressive disease.
Genes Involved and Proteins
Note
FGFR1 was found involved; the partner is unknown.
Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Location
8p11.23
Protein description
Receptor tyrosine kinase; contains an extracellular ligand-binding domain with Ig-like structures, a transmembrane domain, and a cytosolic tyrosine kinase (TK) domain. Involved in signal transduction.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 39590377 | 2024 | Pharmacological and Biological Targeting of FGFR1 in Cancer. | 98 |
| 38750548 | 2024 | The diverse dependence of galectin-1 and -8 on multivalency for the modulation of FGFR1 endocytosis. | 91 |
| 37993879 | 2023 | A novel intronic circular RNA circFGFR1(int2) up-regulates FGFR1 by recruiting transcriptional activators P65/FUS and suppressing miR-4687-5p to promote prostate cancer progression. | 89 |
| 38136383 | 2023 | Controlled Plasma Membrane Delivery of FGFR1 and Modulation of Signaling by a Novel Regulated Anterograde RTK Transport Pathway. | 89 |
| 35488346 | 2022 | FGFR1 is a potential therapeutic target in neuroblastoma. | 84 |
| 25089825 | 2014 | Osteocyte-specific deletion of Fgfr1 suppresses FGF23. | 83 |
| 38957656 | 2024 | Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations. | 78 |
| 34011560 | 2021 | Nuclear FGFR1 Regulates Gene Transcription and Promotes Antiestrogen Resistance in ER(+) Breast Cancer. | 77 |
| 38834239 | 2024 | Diverse Fgfr1 signaling pathways and endocytic trafficking regulate mesoderm development. | 76 |
| 37280363 | 2023 | ATF4 renders human T-cell acute lymphoblastic leukemia cell resistance to FGFR1 inhibitors through amino acid metabolic reprogramming. | 74 |
| 37480072 | 2023 | N-glycosylation acts as a switch for FGFR1 trafficking between the plasma membrane and nuclear envelope. | 66 |
| 39154074 | 2024 | FGFR1 governs iron homeostasis via regulating intracellular protein degradation pathways of IRP2 in prostate cancer cells. | 65 |
| 31492847 | 2019 | Reciprocal regulatory mechanism between miR-214-3p and FGFR1 in FGFR1-amplified lung cancer. | 64 |
| 36467073 | 2022 | Deficiency of endothelial FGFR1 alleviates hyperoxia-induced bronchopulmonary dysplasia in neonatal mice. | 63 |
| 38607246 | 2024 | FGFR1 fusions as a novel molecular driver in rhabdomyosarcoma. | 61 |
| 36778115 | 2023 | The FGFR1 Signaling Pathway Upregulates the Oncogenic Transcription Factor FOXQ1 to Promote Breast Cancer Cell Growth. | 61 |
| 35081975 | 2022 | Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway. | 61 |
| 34502405 | 2021 | Oligodendrocyte-Specific Deletion of FGFR1 Reduces Cerebellar Inflammation and Neurodegeneration in MOG(35-55)-Induced EAE. | 61 |
| 35853934 | 2022 | Activation of CD44/PAK1/AKT signaling promotes resistance to FGFR1 inhibition in squamous-cell lung cancer. | 61 |
| 34855396 | 2021 | Intrinsically Fluorescent Oligomeric Cytotoxic Conjugates Toxic for FGFR1-Overproducing Cancers. | 59 |
| 35733256 | 2022 | FGFR1 SUMOylation coordinates endothelial angiogenic signaling in angiogenesis. | 58 |
| 30914635 | 2019 | Aberrant FGFR signaling mediates resistance to CDK4/6 inhibitors in ER+ breast cancer. | 58 |
| 33962559 | 2021 | The cytotoxic conjugate of highly internalizing tetravalent antibody for targeting FGFR1-overproducing cancer cells. | 58 |
| 33052883 | 2020 | FGF23 protects osteoblasts from dexamethasone-induced oxidative injury. | 57 |
| 38572108 | 2024 | Hyperglycemia activates FGFR1 via TLR4/c-Src pathway to induce inflammatory cardiomyopathy in diabetes. | 56 |
| 35574218 | 2022 | Proteomic analysis reveals dual requirement for Grb2 and PLCγ1 interactions for BCR-FGFR1-Driven 8p11 cell proliferation. | 54 |
| 28558758 | 2017 | FGF2/FGFR1 regulates autophagy in FGFR1-amplified non-small cell lung cancer cells. | 51 |
| 37579831 | 2023 | Spatial distribution and functional relevance of FGFR1 and FGFR2 expression for glioblastoma tumor invasion. | 50 |
| 30875802 | 2019 | Membrane-Associated, Not Cytoplasmic or Nuclear, FGFR1 Induces Neuronal Differentiation. | 50 |
| 33448156 | 2021 | Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma. | 50 |
| 31671754 | 2019 | P65 Targets FGFR1 to Regulate the Survival of Ovarian Granulosa Cells. | 50 |
| 35003900 | 2022 | Immunomodulation via FGFR inhibition augments FGFR1 targeting T-cell based antitumor immunotherapy for head and neck squamous cell carcinoma. | 50 |
| 37880373 | 2023 | FGFR blockade inhibits targeted therapy-tolerant persister in basal FGFR1- and FGF2-high cancers with driver oncogenes. | 49 |
| 32380883 | 2020 | FGFR1 regulates proliferation and metastasis by targeting CCND1 in FGFR1 amplified lung cancer. | 49 |
| 38279043 | 2024 | Macrophage-specific FGFR1 deletion alleviates high-fat-diet-induced liver inflammation by inhibiting the MAPKs/TNF pathways. | 48 |
| 37123894 | 2023 | FGF21/FGFR1-β-KL cascade in cardiomyocytes modulates angiogenesis and inflammation under metabolic stress. | 47 |
| 33604191 | 2021 | Evaluation of FGFR1 as a diagnostic biomarker for ovarian cancer using TCGA and GEO datasets. | 46 |
| 33989301 | 2021 | Prognostic value of FGFR1 expression and amplification in patients with HNSCC: A systematic review and meta-analysis. | 44 |
| 32859279 | 2020 | Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor. | 44 |
| 30552867 | 2019 | FGFR1 regulates trophectoderm development and facilitates blastocyst implantation. | 43 |
| 32187553 | 2020 | FGFR1 Oncogenic Activation Reveals an Alternative Cell of Origin of SCLC in Rb1/p53 Mice. | 43 |
| 37588207 | 2024 | A novel FGFR1 inhibitor CYY292 suppresses tumor progression, invasion, and metastasis of glioblastoma by inhibiting the Akt/GSK3β/snail signaling axis. | 42 |
| 26920151 | 2016 | Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. | 42 |
| 25806220 | 2013 | FGFR1 amplifications in squamous cell carcinomas of the lung: diagnostic and therapeutic implications. | 41 |
| 31980503 | 2020 | Functional characterization of two rare BCR-FGFR1(+) leukemias. | 39 |
| 37526347 | 2023 | MiRNA-470-5p suppresses epithelial-mesenchymal transition of embryonic palatal shelf epithelial cells by targeting Fgfr1 during palatogenesis. | 39 |
| 35018490 | 2022 | Frequent FGFR1 hotspot alterations in driver-unknown low-grade glioma and mixed neuronal-glial tumors. | 38 |
| 37182162 | 2023 | (18)F-labeled FGFR1 peptide: a new PET probe for subtype FGFR1 receptor imaging. | 34 |
| 26015511 | 2015 | FGFR1 Expression Levels Predict BGJ398 Sensitivity of FGFR1-Dependent Head and Neck Squamous Cell Cancers. | 34 |
| 36969192 | 2023 | Deficiency of endothelial FGFR1 signaling via upregulation of ROCK2 activity aggravated ALI/ARDS. | 32 |
| 34114373 | 2021 | GZD824 overcomes FGFR1-V561F/M mutant resistance in vitro and in vivo. | 32 |
| 34440300 | 2021 | Novel FGFR1 Variants Are Associated with Congenital Scoliosis. | 30 |
| 36083147 | 2022 | FGFR1 Antibody Validation and Characterization of FGFR1 Protein Expression in ER+ Breast Cancer. | 30 |
| 30787447 | 2019 | A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway. | 30 |
| 37606995 | 2023 | Somatic rearrangements causing oncogenic ectodomain deletions of FGFR1 in squamous cell lung cancer. | 26 |
| 23576558 | 2013 | FGFR1 is essential for prostate cancer progression and metastasis. | 24 |
| 30593273 | 2018 | FGFR1 expression defines clinically distinct subtypes in pancreatic cancer. | 23 |
| 28008864 | 2017 | Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. | 19 |
| 32194398 | 2020 | Temporospatial Expression of Fgfr1 and 2 During Lung Development, Homeostasis, and Regeneration. | 17 |
| 23151501 | 2012 | FGFR1 amplification and the progression of non-invasive to invasive breast cancer. | 16 |
| 38842387 | 2024 | Macrophage-derived FGFR1 drives atherosclerosis through PLCγ-mediated activation of NF-κB inflammatory signalling pathway. | 0 |
| 38853423 | 2024 | A Selective FGFR1/2 PROTAC Degrader with Antitumor Activity. | 0 |
| 35293634 | 2022 | Rosette-forming glioneuronal tumours are midline, FGFR1-mutated tumours. | 0 |
| 38669968 | 2024 | Targeting FGFR1 by β,β-dimethylacrylalkannin suppresses the proliferation of colorectal cancer in cellular and xenograft models. | 0 |
| 27976968 | 2017 | A FGFR1 inhibitor patent review: progress since 2010. | 0 |
| 38885580 | 2024 | Gentiopicroside ameliorates glucose and lipid metabolism in T2DM via targeting FGFR1. | 0 |
| 36927350 | 2023 | Pemigatinib for the treatment of myeloid/lymphoid neoplasms with FGFR1 rearrangement. | 0 |
| 38647531 | 2024 | A selective Fibroblast Growth Factor Receptor 1/2 PROTAC degrader with antitumor activity. | 0 |
| 37391169 | 2023 | RNA Sequencing Reveals Novel Oncogenic Fusions and Depicts Detailed Fusion Transcripts of FN1-FGFR1 in Phosphaturic Mesenchymal Tumors. | 0 |
| 20389085 | 2010 | FGFR1 mutations in Kallmann syndrome. | 0 |
| 20117945 | 2010 | Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. | 0 |
| 38971541 | 2024 | Erdafitinib promotes ferroptosis in human uveal melanoma by inducing ferritinophagy and lysosome biogenesis via modulating the FGFR1/mTORC1/TFEB signaling axis. | 0 |
| 25503065 | 2015 | "Nuclear FGF receptor-1 and CREB binding protein: an integrative signaling module". | 0 |
| 33725636 | 2021 | Fisetin attenuates periodontitis through FGFR1/TLR4/NLRP3 inflammasome pathway. | 0 |
| 37778450 | 2023 | The D647N mutation of FGFR1 induces ligand-independent receptor activation. | 0 |
| 36731555 | 2023 | Real-ambient particulate matter exposure-induced FGFR1 methylation contributes to cardiac dysfunction via lipid metabolism disruption. | 0 |
| 34774481 | 2022 | Fibroblast Growth Factor Receptor 1 Drives the Metastatic Progression of Prostate Cancer. | 0 |
| 36029209 | 2022 | Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis. | 0 |
| 26896280 | 2016 | FGFR1 Induces Glioblastoma Radioresistance through the PLCγ/Hif1α Pathway. | 0 |
| 37268269 | 2023 | Fgfr1 deficiency in osteocytes leads to increased bone mass by enhancing Wnt/β-catenin signaling. | 0 |
| 25966815 | 2015 | Coalition of Nuclear Receptors in the Nervous System. | 0 |
| 25388665 | 2015 | FGFR1 mediates recombinant thrombomodulin domain-induced angiogenesis. | 0 |
| 39217891 | 2024 | FGFR1-mediated enhancement of foot-and-mouth disease virus entry. | 0 |
| 14587025 | 2003 | Integrative nuclear FGFR1 signaling (INFS) as a part of a universal "feed-forward-and-gate" signaling module that controls cell growth and differentiation. | 0 |
| 34985768 | 2022 | Crosstalk of FGFR1 signaling and choline metabolism promotes cell proliferation and survival in prostate cancer cells. | 0 |
| 35870429 | 2022 | FGFR1 promotes tumor immune evasion via YAP-mediated PD-L1 expression upregulation in lung squamous cell carcinoma. | 0 |
| 33007330 | 2021 | FGFR1 overexpression renders breast cancer cells resistant to metformin through activation of IRS1/ERK signaling. | 0 |
| 33753561 | 2022 | FGFR1 copy number in breast cancer: associations with proliferation, histopathological grade and molecular subtypes. | 0 |
| 29858603 | 2018 | FGFR1-ERK1/2-SOX2 axis promotes cell proliferation, epithelial-mesenchymal transition, and metastasis in FGFR1-amplified lung cancer. | 0 |
| 37597337 | 2023 | Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype. | 0 |
| 35749940 | 2022 | Alcoholic fatty liver is blunted by rFGF21 administration in mice lacking adipose FGFR1: The role of FGF21 in PPARα-mediated regulation of adipose tissue mass. | 0 |
| 31250523 | 2019 | Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia. | 0 |
| 34689508 | 2021 | SHANK2-FGFR1: A Novel FGFR1 Rearrangement in a Patient with Intestinal Adenocarcinoma. | 0 |
| 32278061 | 2020 | Peripheral FGFR1 Regulates Myofascial Pain in Rats via the PI3K/AKT Pathway. | 0 |
| 28411082 | 2017 | A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient. | 0 |
| 33148422 | 2021 | Oxysophocarpine suppresses FGFR1-overexpressed hepatocellular carcinoma growth and sensitizes the therapeutic effect of lenvatinib. | 0 |
| 36428107 | 2023 | Significant association between FGFR1 mutation frequency and age in central giant cell granuloma. | 0 |
| 39392940 | 2024 | Fibroblast Growth Factor Receptor 1-Specific Dehydrogelation to Release Its Inhibitor for Enhanced Lung Tumor Therapy. | 0 |
| 10861678 | 2000 | Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. | 0 |
| 36002765 | 2022 | TNFAIP3 mediates FGFR1 activation-induced breast cancer angiogenesis by promoting VEGFA expression and secretion. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 3118098 | 1987 | Mast cell disease followed by leukemia with clonal evolution. | Lewis JP et al |
| 11550283 | 2001 | Identification of four new translocations involving FGFR1 in myeloid disorders. | Sohal J et al |
Citation
Jean-Loup Huret
t(8;17)(p11;q25) ?/FGFR1
Atlas Genet Cytogenet Oncol Haematol. 2008-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1202/t(8;17)(p11;q25)-fgfr1
