Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma

scientific article

Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1158/1078-0432.CCR-14-3049
P932PMC publication ID4573781
P698PubMed publication ID25925892

P50authorTiandao LiQ55283595
David H. GutmannQ56670301
P2093author name stringRobert S Fulton
Christopher A Miller
Katherine DeSchryver
Sandra McDonald
Timothy J Ley
Melike Pekmezci
Arie Perry
Eric J Duncavage
Haley J Abel
Sonika Dahiya
Xiaochun Zhang
Angela C Hirbe
Karlyne M Reilly
Jessica Walrath
P2860cites workA widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesiclesQ22008043
Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrinQ24323104
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencingQ24628978
Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrowQ24645717
Fast and accurate short read alignment with Burrows-Wheeler transformQ24653853
Molecular profiling of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1, based on large-scale real-time RT-PCRQ24795409
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
The Sequence Alignment/Map format and SAMtoolsQ27860966
The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics dataQ28266682
Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formationQ28266922
Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortalQ28288215
CXCR4 regulates growth of both primary and metastatic breast cancerQ28296113
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumoursQ28306740
Loss of tuberous sclerosis complex 1 (Tsc1) expression results in increased Rheb/S6K pathway signaling important for astrocyte cell size regulationQ28507521
Nf1;Trp53 mutant mice develop glioblastoma with evidence of strain-specific effectsQ28511432
Biallelic inactivation of TP53 rarely contributes to the development of malignant peripheral nerve sheath tumors.Q53402903
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.Q53549151
Array-Based Comparative Genomic Hybridization Identifies CDK4 and FOXM1 Alterations as Independent Predictors of Survival in Malignant Peripheral Nerve Sheath TumorQ61829389
Differential NF1, p16, and EGFR patterns by interphase cytogenetics (FISH) in malignant peripheral nerve sheath tumor (MPNST) and morphologically similar spindle cell neoplasmsQ61829515
National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987Q67261485
TP53 mutations are frequent in malignant NF1 tumorsQ71648002
Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1Q73912508
p15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumorsQ79101801
Germline and somatic NF1 gene mutations in plexiform neurofibromasQ81290217
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findingsQ83189354
Mouse models of tumor development in neurofibromatosis type 1Q28591083
Mouse tumor model for neurofibromatosis type 1Q28591456
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short readsQ29617402
Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cellsQ33757962
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.Q33801655
Trp53 haploinsufficiency modifies EGFR-driven peripheral nerve sheath tumorigenesisQ33826589
Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.Q33935986
CD44 and p53 immunoexpression patterns in NF1 neoplasms - indicators of malignancy and infiltration.Q33962059
SomaticSniper: identification of somatic point mutations in whole genome sequencing dataQ34095911
TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regionsQ34105259
Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairsQ34274529
Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissuesQ34498687
Neurofibromas in NF1: Schwann cell origin and role of tumor environmentQ34509108
Survivin expression and prognostic significance in pediatric malignant peripheral nerve sheath tumors (MPNST).Q35058504
Methylated RASSF1A in malignant peripheral nerve sheath tumors identifies neurofibromatosis type 1 patients with inferior prognosisQ35558868
Genetically engineered mouse models shed new light on the pathogenesis of neurofibromatosis type I-related neoplasms of the peripheral nervous systemQ35686940
Recent advances in neurofibromatosis type 1.Q35691343
Schweinfurthin A selectively inhibits proliferation and Rho signaling in glioma and neurofibromatosis type 1 tumor cells in a NF1-GRD-dependent manner.Q35711858
NF1 deletions in S-100 protein-positive and negative cells of sporadic and neurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignant peripheral nerve sheath tumorsQ35746617
Malignant transformation of neurofibromas in neurofibromatosis 1 is associated with CDKN2A/p16 inactivationQ35788039
Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival geneQ36042066
βIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complexQ36561930
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1Q36653938
KRAB-Zinc Finger Proteins: A Repressor Family Displaying Multiple Biological Functions.Q37065382
Spectrin: structure, function and diseaseQ38168494
Survivin beyond physiology: orchestration of multistep carcinogenesis and therapeutic potentialsQ38190309
Neurofibromatosis type 1: a multidisciplinary approach to careQ38230259
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesisQ38327730
Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasmsQ39030536
Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1.Q39857065
Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors.Q40480120
Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumorsQ40543125
Chondrocyte phenotype and cell survival are regulated by culture conditions and by specific cytokines through the expression of Sox-9 transcription factor.Q40774788
BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors.Q42533125
Cyclic AMP suppression is sufficient to induce gliomagenesis in a mouse model of neurofibromatosis-1Q42729073
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumorsQ44943632
Topoisomerase-II alpha is upregulated in malignant peripheral nerve sheath tumors and associated with clinical outcomeQ47322886
Identification of a novel amplicon at distal 17q containing the BIRC5/SURVIVIN gene in malignant peripheral nerve sheath tumoursQ48524485
P433issue18
P407language of work or nameEnglishQ1860
P921main subjectmutationQ42918
P304page(s)4201-4211
P577publication date2015-04-29
P1433published inClinical Cancer ResearchQ332253
P1476titleWhole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma
P478volume21

Reverse relations

cites work (P2860)
Q53818390Analysis of intra-tumor heterogeneity in Neurofibromatosis Type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.
Q59807623Gain of UBE2D1 facilitates hepatocellular carcinoma progression and is associated with DNA damage caused by continuous IL-6
Q53688831Genomic status of MET potentiates sensitivity to MET and MEK inhibition in NF1-related malignant peripheral nerve sheath tumors.
Q94391419Highlights from the Literature
Q91639276Identification of DNA methylation-driven genes by integrative analysis of DNA methylation and transcriptome data in pancreatic adenocarcinoma
Q38746881Immortalization of human normal and NF1 neurofibroma Schwann cells
Q56378392Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53
Q90702562Inferring Novel Tumor Suppressor Genes with a Protein-Protein Interaction Network and Network Diffusion Algorithms
Q42415336Loss of H3K27 tri-methylation is a diagnostic marker for malignant peripheral nerve sheath tumors and an indicator for an inferior survival.
Q33737662Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies.
Q64240315Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas
Q35837219Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.
Q42572216Spatially- and temporally-controlled postnatal p53 knockdown cooperates with embryonic Schwann cell precursor Nf1 gene loss to promote malignant peripheral nerve sheath tumor formation
Q91670462TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death
Q90394601The Role of Polycomb Repressive Complex in Malignant Peripheral Nerve Sheath Tumor
Q39031599The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.
Q35837444Whole Exome Sequencing of Rapid Autopsy Tumors and Xenograft Models Reveals Possible Driver Mutations Underlying Tumor Progression
Q97543675Whole exome sequencing reveals the maintained polyclonal nature from primary to metastatic malignant peripheral nerve sheath tumor in two patients with NF1
Q88215065β-III-spectrin immunohistochemistry as a potential diagnostic tool with high sensitivity for malignant peripheral nerve sheath tumors