t(8;11)(p12;p15) ?/FGFR1

2008-07-01   Jean-Loup Huret  

1.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 IDYearTitleCitations
395903772024Pharmacological and Biological Targeting of FGFR1 in Cancer.98
387505482024The diverse dependence of galectin-1 and -8 on multivalency for the modulation of FGFR1 endocytosis.91
379938792023A 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
381363832023Controlled Plasma Membrane Delivery of FGFR1 and Modulation of Signaling by a Novel Regulated Anterograde RTK Transport Pathway.89
354883462022FGFR1 is a potential therapeutic target in neuroblastoma.84
250898252014Osteocyte-specific deletion of Fgfr1 suppresses FGF23.83
389576562024Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.78
340115602021Nuclear FGFR1 Regulates Gene Transcription and Promotes Antiestrogen Resistance in ER(+) Breast Cancer.77
388342392024Diverse Fgfr1 signaling pathways and endocytic trafficking regulate mesoderm development.76
372803632023ATF4 renders human T-cell acute lymphoblastic leukemia cell resistance to FGFR1 inhibitors through amino acid metabolic reprogramming.74
374800722023N-glycosylation acts as a switch for FGFR1 trafficking between the plasma membrane and nuclear envelope.66
391540742024FGFR1 governs iron homeostasis via regulating intracellular protein degradation pathways of IRP2 in prostate cancer cells.65
314928472019Reciprocal regulatory mechanism between miR-214-3p and FGFR1 in FGFR1-amplified lung cancer.64
364670732022Deficiency of endothelial FGFR1 alleviates hyperoxia-induced bronchopulmonary dysplasia in neonatal mice.63
386072462024FGFR1 fusions as a novel molecular driver in rhabdomyosarcoma.61
367781152023The FGFR1 Signaling Pathway Upregulates the Oncogenic Transcription Factor FOXQ1 to Promote Breast Cancer Cell Growth.61
350819752022Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.61
345024052021Oligodendrocyte-Specific Deletion of FGFR1 Reduces Cerebellar Inflammation and Neurodegeneration in MOG(35-55)-Induced EAE.61
358539342022Activation of CD44/PAK1/AKT signaling promotes resistance to FGFR1 inhibition in squamous-cell lung cancer.61
348553962021Intrinsically Fluorescent Oligomeric Cytotoxic Conjugates Toxic for FGFR1-Overproducing Cancers.59
357332562022FGFR1 SUMOylation coordinates endothelial angiogenic signaling in angiogenesis.58
309146352019Aberrant FGFR signaling mediates resistance to CDK4/6 inhibitors in ER+ breast cancer.58
339625592021The cytotoxic conjugate of highly internalizing tetravalent antibody for targeting FGFR1-overproducing cancer cells.58
330528832020FGF23 protects osteoblasts from dexamethasone-induced oxidative injury.57
385721082024Hyperglycemia activates FGFR1 via TLR4/c-Src pathway to induce inflammatory cardiomyopathy in diabetes.56
355742182022Proteomic analysis reveals dual requirement for Grb2 and PLCγ1 interactions for BCR-FGFR1-Driven 8p11 cell proliferation.54
285587582017FGF2/FGFR1 regulates autophagy in FGFR1-amplified non-small cell lung cancer cells.51
375798312023Spatial distribution and functional relevance of FGFR1 and FGFR2 expression for glioblastoma tumor invasion.50
308758022019Membrane-Associated, Not Cytoplasmic or Nuclear, FGFR1 Induces Neuronal Differentiation.50
334481562021Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma.50
316717542019P65 Targets FGFR1 to Regulate the Survival of Ovarian Granulosa Cells.50
350039002022Immunomodulation via FGFR inhibition augments FGFR1 targeting T-cell based antitumor immunotherapy for head and neck squamous cell carcinoma.50
378803732023FGFR blockade inhibits targeted therapy-tolerant persister in basal FGFR1- and FGF2-high cancers with driver oncogenes.49
323808832020FGFR1 regulates proliferation and metastasis by targeting CCND1 in FGFR1 amplified lung cancer.49
382790432024Macrophage-specific FGFR1 deletion alleviates high-fat-diet-induced liver inflammation by inhibiting the MAPKs/TNF pathways.48
371238942023FGF21/FGFR1-β-KL cascade in cardiomyocytes modulates angiogenesis and inflammation under metabolic stress.47
336041912021Evaluation of FGFR1 as a diagnostic biomarker for ovarian cancer using TCGA and GEO datasets.46
339893012021Prognostic value of FGFR1 expression and amplification in patients with HNSCC: A systematic review and meta-analysis.44
328592792020Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.44
305528672019FGFR1 regulates trophectoderm development and facilitates blastocyst implantation.43
321875532020FGFR1 Oncogenic Activation Reveals an Alternative Cell of Origin of SCLC in Rb1/p53 Mice.43
375882072024A novel FGFR1 inhibitor CYY292 suppresses tumor progression, invasion, and metastasis of glioblastoma by inhibiting the Akt/GSK3β/snail signaling axis.42
269201512016Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.42
258062202013FGFR1 amplifications in squamous cell carcinomas of the lung: diagnostic and therapeutic implications.41
319805032020Functional characterization of two rare BCR-FGFR1(+) leukemias.39
375263472023MiRNA-470-5p suppresses epithelial-mesenchymal transition of embryonic palatal shelf epithelial cells by targeting Fgfr1 during palatogenesis.39
350184902022Frequent FGFR1 hotspot alterations in driver-unknown low-grade glioma and mixed neuronal-glial tumors.38
371821622023(18)F-labeled FGFR1 peptide: a new PET probe for subtype FGFR1 receptor imaging.34
260155112015FGFR1 Expression Levels Predict BGJ398 Sensitivity of FGFR1-Dependent Head and Neck Squamous Cell Cancers.34
369691922023Deficiency of endothelial FGFR1 signaling via upregulation of ROCK2 activity aggravated ALI/ARDS.32
341143732021GZD824 overcomes FGFR1-V561F/M mutant resistance in vitro and in vivo.32
344403002021Novel FGFR1 Variants Are Associated with Congenital Scoliosis.30
360831472022FGFR1 Antibody Validation and Characterization of FGFR1 Protein Expression in ER+ Breast Cancer.30
307874472019A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.30
376069952023Somatic rearrangements causing oncogenic ectodomain deletions of FGFR1 in squamous cell lung cancer.26
235765582013FGFR1 is essential for prostate cancer progression and metastasis.24
305932732018FGFR1 expression defines clinically distinct subtypes in pancreatic cancer.23
280088642017Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.19
321943982020Temporospatial Expression of Fgfr1 and 2 During Lung Development, Homeostasis, and Regeneration.17
231515012012FGFR1 amplification and the progression of non-invasive to invasive breast cancer.16
388423872024Macrophage-derived FGFR1 drives atherosclerosis through PLCγ-mediated activation of NF-κB inflammatory signalling pathway.0
388534232024A Selective FGFR1/2 PROTAC Degrader with Antitumor Activity.0
352936342022Rosette-forming glioneuronal tumours are midline, FGFR1-mutated tumours.0
386699682024Targeting FGFR1 by β,β-dimethylacrylalkannin suppresses the proliferation of colorectal cancer in cellular and xenograft models.0
279769682017A FGFR1 inhibitor patent review: progress since 2010.0
388855802024Gentiopicroside ameliorates glucose and lipid metabolism in T2DM via targeting FGFR1.0
369273502023Pemigatinib for the treatment of myeloid/lymphoid neoplasms with FGFR1 rearrangement.0
386475312024A selective Fibroblast Growth Factor Receptor 1/2 PROTAC degrader with antitumor activity.0
373911692023RNA Sequencing Reveals Novel Oncogenic Fusions and Depicts Detailed Fusion Transcripts of FN1-FGFR1 in Phosphaturic Mesenchymal Tumors.0
203890852010FGFR1 mutations in Kallmann syndrome.0
201179452010Novel insights in FGFR1 regulation: lessons from Kallmann syndrome.0
389715412024Erdafitinib promotes ferroptosis in human uveal melanoma by inducing ferritinophagy and lysosome biogenesis via modulating the FGFR1/mTORC1/TFEB signaling axis.0
255030652015"Nuclear FGF receptor-1 and CREB binding protein: an integrative signaling module".0
337256362021Fisetin attenuates periodontitis through FGFR1/TLR4/NLRP3 inflammasome pathway.0
377784502023The D647N mutation of FGFR1 induces ligand-independent receptor activation.0
367315552023Real-ambient particulate matter exposure-induced FGFR1 methylation contributes to cardiac dysfunction via lipid metabolism disruption.0
347744812022Fibroblast Growth Factor Receptor 1 Drives the Metastatic Progression of Prostate Cancer.0
360292092022Circ_SNX27 regulates hepatocellular carcinoma development via miR-637/FGFR1 axis.0
268962802016FGFR1 Induces Glioblastoma Radioresistance through the PLCγ/Hif1α Pathway.0
372682692023Fgfr1 deficiency in osteocytes leads to increased bone mass by enhancing Wnt/β-catenin signaling.0
259668152015Coalition of Nuclear Receptors in the Nervous System.0
253886652015FGFR1 mediates recombinant thrombomodulin domain-induced angiogenesis.0
392178912024FGFR1-mediated enhancement of foot-and-mouth disease virus entry.0
145870252003Integrative nuclear FGFR1 signaling (INFS) as a part of a universal "feed-forward-and-gate" signaling module that controls cell growth and differentiation.0
349857682022Crosstalk of FGFR1 signaling and choline metabolism promotes cell proliferation and survival in prostate cancer cells.0
358704292022FGFR1 promotes tumor immune evasion via YAP-mediated PD-L1 expression upregulation in lung squamous cell carcinoma.0
330073302021FGFR1 overexpression renders breast cancer cells resistant to metformin through activation of IRS1/ERK signaling.0
337535612022FGFR1 copy number in breast cancer: associations with proliferation, histopathological grade and molecular subtypes.0
298586032018FGFR1-ERK1/2-SOX2 axis promotes cell proliferation, epithelial-mesenchymal transition, and metastasis in FGFR1-amplified lung cancer.0
375973372023Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype.0
357499402022Alcoholic 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
312505232019Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia.0
346895082021SHANK2-FGFR1: A Novel FGFR1 Rearrangement in a Patient with Intestinal Adenocarcinoma.0
322780612020Peripheral FGFR1 Regulates Myofascial Pain in Rats via the PI3K/AKT Pathway.0
284110822017A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.0
331484222021Oxysophocarpine suppresses FGFR1-overexpressed hepatocellular carcinoma growth and sensitizes the therapeutic effect of lenvatinib.0
364281072023Significant association between FGFR1 mutation frequency and age in central giant cell granuloma.0
393929402024Fibroblast Growth Factor Receptor 1-Specific Dehydrogelation to Release Its Inhibitor for Enhanced Lung Tumor Therapy.0
108616782000Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.0
360027652022TNFAIP3 mediates FGFR1 activation-induced breast cancer angiogenesis by promoting VEGFA expression and secretion.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
66272221983The predictive value of initial cytogenetic studies in 148 adults with acute nonlymphocytic leukemia: a 12-year study (1970-1982).Larson RA et al
115502832001Identification 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;11)(p12;p15)