Genes Chromosomes & Cancer

Papers
(The median citation count of Genes Chromosomes & Cancer is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-06-01 to 2025-06-01.)
ArticleCitations
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Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes49
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Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer38
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations38
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?25
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion24
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior23
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck23
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein23
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The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth19
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Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF‐/MEK‐inhibitor treatment—A case report and review of the literature18
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications18
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence18
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart17
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Correction to “Temporal Trends and Regional Variability in BRAF and KRAS Genetic Testing in Denmark (2010–2022): Implications for Precision Medicine”17
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ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma16
Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress16
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Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion15
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine15
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation15
Aneurysmal bone cyst with an unusual clinical presentation and a novel VDRUSP6 fusion15
Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report14
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VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features14
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant14
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature13
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A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma12
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study12
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping12
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma12
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Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions11
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance11
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome11
3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG111
Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features11
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Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement10
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A Bibliometric Analysis on the Risk Factors of Cancer10
Digital pathology systems enabling quality patient care10
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion10
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Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti9
Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1SSX2 fusion identified by RNA‐based next‐generation sequencing9
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall9
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer9
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Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide9
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient9
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis9
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature9
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors9
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration8
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification8
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Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer8
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Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes8
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases8
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma7
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum7
Loss of smarcad1a accelerates tumorigenesis of malignant peripheral nerve sheath tumors in zebrafish7
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POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA27
Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications7
Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma7
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma7
Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation7
How to use AI in pathology7
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene7
Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients7
Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity7
Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing7
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GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review6
The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development6
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Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor6
A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS‐NFATC1/2 fusions6
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report6
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm6
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors6
Alternative genetic alterations of MYC, BCL2, and/or BCL6 in high‐grade B‐cell lymphoma (HGBL) and diffuse large B‐cell lymphoma (DLBCL): Can we identify dif6
Malignant Peripheral Nerve Sheath Tumor (MPNST) With Smooth Muscle Differentiation of the Uterus—A Case Report With Emphasis on Diagnostic Pitfalls and Value of DNA Methylation A5
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors5
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor5
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Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort5
Gene fusions in gastrointestinal tract cancers5
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer5
RBM10‐TFE3 fusions: A FISH‐concealed anomaly in adult renal cell carcinomas displaying a variety of morphological and genomic features: Comprehensive study of six novel cases5
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer5
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GAB1‐ABL1 fusions in tumors that have histologic overlap with NTRKrearranged spindle cell tumors5
Cell Senescence and the Genetics of Melanoma Development5
Neuregulin 1 (NRG1) fusion‐positive high‐grade spindle cell sarcoma: A distinct group of soft tissue tumors with metastatic potential5
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Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions5
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Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia4
Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas4
MYH9::LTK Fusion in a Pediatric Acral Soft Tissue Spindle Cell Neoplasm4
FGFR1 gene fusions in a subset of pediatric mesenchymal tumors: Expanding the genetic spectrum of tumors sharing histologic overlap with infantile fibrosarcoma and “NTRK<4
Low‐grade endometrial stromal sarcoma‐like tumors in male with JAZF1 gene fusions4
A case of spindle cell rhabdomyosarcoma with a ZFP64::NCOA3 fusion4
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome4
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing4
A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion4
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I4
N‐terminus DUX4‐immunohistochemistry is a reliable methodology for the diagnosis of DUX4fused B‐lymphoblastic leukemia/lymphoma (N‐terminus DUX4 IHC for DUX4<4
Expanding the spectrum of GLI1‐altered mesenchymal tumors—A high‐grade uterine sarcoma harboring a novel PAMR1::GLI1 fusion and literature review of GLI1‐altered mesenchyma4
The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non‐AML myeloid neoplasms4
Complete mimicry: Rhabdomyosarcoma with FUS::TFCP2 fusion masquerading as carcinoma—diagnostic challenge and report of two cases4
Sporadic Breast Angiosarcoma With MYC Amplification on Extrachromosomal Circular DNA Detected Using Nanopore Sequencing in an Adolescent Female4
Soft‐tissue sarcoma with MN1‐BEND2 fusion: A case report and comparison with astroblastoma4
GAB1::ABL1 fusions define a distinctive soft tissue neoplasm, with variable perineurial differentiation, and a predilection for children and young adults4
Spindle cell neoplasms with novel LTK fusion – Expanding the spectrum of kinase fusion‐positive soft tissue tumors4
Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones4
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS/RAF mutations4
DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features3
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Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?3
Distinct Signatures of Chromosomal Involvement in 59 251 Translocations Across 58 Tumor Types. A Novel Perspective3
Shallow whole‐genome sequencing of bone marrow aspirates in myelodysplastic neoplasms: A retrospective comparison with cytogenetics3
Corrigendum3
A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia3
TFG::MET‐rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low‐grade triphasic morphology3
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Assessing acute myeloid leukemia susceptibility in rearrangement‐driven patients by DNA breakage at topoisomerase II and CCCTC‐binding factor/cohesin binding sites3
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Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity3
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)3
Development and validation of blood tumor mutational burden reference standards3
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Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin‐Positive Giant Cell Tumor3
A Novel JAK2 Fusion in T‐Cell Prolymphocytic Leukemia3
Discovery of Cis‐Regulatory Mechanisms via Non‐Coding Mutations in Acute Lymphoblastic Leukemia3
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Mismatch repair deficiency: The what, how and why it is important3
Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies3
A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion3
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Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis3
Vanished MDM2 amplification in multiple recurrences of an irradiated poorly differentiated sarcoma with amplified TRIO::TERT fusion gene3
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Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual2
Comprehensive analyses of microRNA and mRNA expression in colorectal serrated lesions and colorectal cancer with a microsatellite instability phenotype2
A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene2
When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion2
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COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation2
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neoplasm2
Single‐Cell Profiling of Mononuclear Cells Identifies Transcriptomics Signatures Differentiating Prostate Cancer From Benign Prostatic Hyperplasia2
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A novel colony‐stimulating factor 1 (CSF1) translocation  involving human endogenous retroviral element in a tenosynovial giant cell tumor2
FGFR2::TACC2 fusion as a novel KIT‐independent mechanism of targeted therapy failure in a multidrug‐resistant gastrointestinal stromal tumor2
A novel t(X;21)(p11.4;q22.12) translocation adds to the role of BCOR and RUNX1 in myelodysplastic syndromes and acute myeloid leukemias2
Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors2
Pediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma2
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Methylation classifiers: Brain tumors, sarcomas, and what's next2
Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes2
Schwann Cells Deficient in Neurofibromin Lack Sensitivity to Their Biomechanical Microenvironment2
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MicroRNA‐192‐5p inhibits migration of triple negative breast cancer cells and directly regulates RhoGTPaseactivating protein 192
A novel STRN3::PRKD1 fusion in a cribriform adenocarcinoma of salivary gland with high‐grade transformation2
Genomic profiling of pleomorphic rhabdomyosarcoma reveals a genomic signature distinct from that of embryonal rhabdomyosarcoma2
Sustained remission after ruxolitinib and chimeric antigen receptor T‐cell therapy bridged to a second allogeneic hematopoietic stem cell transplantation for relapsed Philadelphia chromosome‐like B‐ce2
A novel HMGA2::KITLG fusion in a dedifferentiated liposarcoma with amplification of MDM2 and HMGA22
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Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation2
NR1D1::MAML1 epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy: A case report and review of the literature2
Profiling Precursor microRNAs of Breast Cancer From Total RNA Sequencing Data to Gain Insights Into Their Roles and Prognostic Values2
An Inflammatory Myofibroblastic Tumor With a Novel ALKV1180L Mutation Leading to Acquired Resistance to Tyrosine Kinase Inhibitors2
Gene Expression Profiles of AHNAK2, DCSTAMP, FN1, and TERT Correlate With Mutational Status and Recurrence in Papillary Thyroid Carcinoma2
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Clonal origin and genomic diversity in Lynch syndrome‐associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H1
The novel finding of an FGFR1::TACC1 fusion in an undifferentiated spindle cell sarcoma of soft tissue with aggressive clinical course1
An intraosseous myoepithelial carcinoma with a EWSR1::PBX3 fusion1
Pediatric Mesenchymal Tumor With MN1::TAF3 Fusion1
Transcriptomic profiles‐based approach to decode the role of miR‐122 in triple negative breast cancer1
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion1
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic1
The Transcriptomic and Gene Fusion Landscape of Pleomorphic Salivary Gland Adenomas1
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17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas1
Standardizing analysis of intra‐tumoral heterogeneity with computational pathology1
Primary mediastinal large B‐cell lymphoma is characterized by large‐scale copy‐neutral loss of heterozygosity1
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients1
High‐Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion1
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis1
Rethinking cancer initiation: The role of large‐scale mutational events1
Challenging Conventional Perceptions of Oncogenes and Tumor Suppressor Genes: A Comprehensive Analysis of Gene Expression Patterns in Cancer1
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Constitutional and acquired genetic variants in ARID5B in pediatric B‐cell precursor acute lymphoblastic leukemia1
Translocation carcinomas of the kidney1
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel1
Targeted RNA sequencing in the routine clinical detection of fusion genes in salivary gland tumors1
Related mechanisms, current treatments, and new perspectives in meningioma1
Clinicopathologic and molecular correlates to neoadjuvant chemotherapy‐induced pathologic response in breast angiosarcoma1
Gastrointestinal stromal tumors withBRAFgene fusions. A report of two cases showing low or absentKITexpression resulting in diagnostic pitfalls1
Clinicopathological features and resistance mechanisms in HIP1‐ALK‐rearranged lung cancer: A multicenter study1
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