t(8;11)(p12;p15) ?/FGFR1
2008-07-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Acute meyloid leukaemia (AML)
Epidemiology
Two cases to date, two male patients, one was aged 50 yrs, and had a M4-AML (Larson et al 1983; Sohal et al, 2001).
Prognosis
One patient died "following chemotherapy", the other one at 19 mths after diagnosis.
Genes Involved and Proteins
Note
In one case (Sohal et al, 2001), the genes were studied. FGFR1 was found involved; the breakpoint on the other chromosome fell within or near NUP98, but the involvement of NUP98 could not be proved.
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 |
|---|---|---|---|
| 6627222 | 1983 | The predictive value of initial cytogenetic studies in 148 adults with acute nonlymphocytic leukemia: a 12-year study (1970-1982). | Larson RA et al |
| 11550283 | 2001 | Identification of four new translocations involving FGFR1 in myeloid disorders. | Sohal J et al |
Citation
Jean-Loup Huret
t(8;11)(p12;p15) ?/FGFR1
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/haematological/1521/t(8
