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 2022-01-01 to 2026-01-01.)
ArticleCitations
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MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?49
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations42
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IGH::IL3‐Rearranged B‐Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant30
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion29
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein24
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes23
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior22
The Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas21
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck20
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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 cancer19
ERRATUM18
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence18
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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
Uterine Myxoid Mesenchymal Tumor With a Novel SS18::VEZF1 Gene Fusion, Lacking Worrisome Histological Features16
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications16
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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 literature16
Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress15
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart15
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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 overgrowth15
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 features13
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Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant13
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Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation12
GLI1 ‐Altered Mesenchymal Tumor of the Duodenum With a Novel TNFAIP3::GLI1 12
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature12
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Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion12
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma12
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Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma11
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome11
Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features11
Digital pathology systems enabling quality patient care10
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma10
3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG110
Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions10
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping10
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance10
Expanding the Morphologic and Molecular Spectrum of Spindle Cell Tumors Associated With TERT Fusions10
Novel Resistance Mechanisms to Second‐Generation EGFR Tyrosine Kinase Inhibitor Afatinib and Associations With Genomic Features in 10
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement10
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study10
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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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Issue Information9
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion8
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature8
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall8
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis8
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti8
Clinical and Pathologic Description of Three Aneurysmal Bone Cyst Cases With Novel USP6 Fusion Partners Including SEC24D 8
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit8
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient8
A Bibliometric Analysis on the Risk Factors of Cancer8
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide7
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases7
Issue Information7
Resurfacing Threats: Metastatic Ossifying Fibromyxoid Tumor Emerging After Almost Two Decades7
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration7
Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients7
Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications7
Issue Information7
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer7
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma7
Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma7
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene7
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors7
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification7
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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
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Adult Type Lipoblastoma With a Predominantly Fibroblastic Morphology and a Novel DLEU2::PLAG1 Gene Rearrangement: Two Cases of a Rare Entity6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!6
“Benign” Metastasizing Fibrous Histiocytoma Harboring PRKCD Gene Fusions With Malignant Clinical Course6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors6
How to use AI in pathology6
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm6
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA26
Durable Response to Pazopanib (Tyrosine Kinase Inhibitor) in a Patient With EWSR1::CREM Gene Fusion Positive Intra‐Abdominal Unclassified Epithelioid Sar6
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review6
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TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors6
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor6
Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions5
Spatial Dynamics of Tumor Cell Plasticity in Lung Adenocarcinoma Revealed by Region‐Specific Single Cell Transcriptomics5
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 dif5
Secondary Genetic Alterations in Extraskeletal Myxoid Chondrosarcoma5
Susanne M. Gollin, PhD, Sept 22, 1953–April 6, 20255
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
Corrigendum5
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor5
Issue Information5
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors5
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia5
Issue Information5
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer5
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia5
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Cell Senescence and the Genetics of Melanoma Development5
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort5
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Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report5
PLAG1‐Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?5
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Complete mimicry: Rhabdomyosarcoma with FUS::TFCP2 fusion masquerading as carcinoma—diagnostic challenge and report of two cases5
Corrigendum5
A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia4
Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones4
Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis4
A Novel JAK2 Fusion in T‐Cell Prolymphocytic Leukemia4
MYH9::LTK Fusion in a Pediatric Acral Soft Tissue Spindle Cell Neoplasm4
Gene fusions in gastrointestinal tract cancers4
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing4
GAB1::ABL1 fusions define a distinctive soft tissue neoplasm, with variable perineurial differentiation, and a predilection for children and young adults4
The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non‐AML myeloid neoplasms4
EWSR1 Rearrangements in Basaloid Neoplasms With Adnexal Differentiation4
Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin‐Positive Giant Cell Tumor4
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
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TFE3‐Altered Perivascular Epithelioid Cell Tumour (PEComa) of the Nasal Cavity With a Novel TRAF3::TFE3 Fusion—A Report of a Case Expanding the Molecular Genetic Spectrum and 4
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome4
Sporadic Breast Angiosarcoma With MYC Amplification on Extrachromosomal Circular DNA Detected Using Nanopore Sequencing in an Adolescent Female4
N‐terminus DUX4‐immunohistochemistry is a reliable methodology for the diagnosis of DUX4fused B‐lymphoblastic leukemia/lymphoma (N‐terminus DUX4 IHC for DUX4<4
Correction to “EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature”4
TFG::MET‐rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low‐grade triphasic morphology4
A case of spindle cell rhabdomyosarcoma with a ZFP64::NCOA3 fusion4
Spindle cell neoplasms with novel LTK fusion – Expanding the spectrum of kinase fusion‐positive soft tissue tumors4
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
A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion4
Soft‐tissue sarcoma with MN1‐BEND2 fusion: A case report and comparison with astroblastoma4
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?3
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Shallow whole‐genome sequencing of bone marrow aspirates in myelodysplastic neoplasms: A retrospective comparison with cytogenetics3
Erratum3
Discovery of Cis‐Regulatory Mechanisms via Non‐Coding Mutations in Acute Lymphoblastic Leukemia3
DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features3
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)3
Corrigendum3
Distinct Signatures of Chromosomal Involvement in 59 251 Translocations Across 58 Tumor Types. A Novel Perspective3
Vanished MDM2 amplification in multiple recurrences of an irradiated poorly differentiated sarcoma with amplified TRIO::TERT fusion gene3
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A novel STRN3::PRKD1 fusion in a cribriform adenocarcinoma of salivary gland with high‐grade transformation3
Issue Information3
BCOR‐Mutated Conventional and Dedifferentiated Chondrosarcoma: A Clinicopathologic Study3
A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion3
Development and validation of blood tumor mutational burden reference standards3
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Pseudoglandular Schwannoma With FUS::KLF17 Fusion: Broadening the Spectrum of FUS‐Associated Tumors3
A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene3
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 dual3
Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies3
Schwann Cells Deficient in Neurofibromin Lack Sensitivity to Their Biomechanical Microenvironment2
When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion2
ANNOUNCEMENT2
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Genomic profiling of pleomorphic rhabdomyosarcoma reveals a genomic signature distinct from that of embryonal rhabdomyosarcoma2
An Inflammatory Myofibroblastic Tumor With a Novel ALKV1180L Mutation Leading to Acquired Resistance to Tyrosine Kinase Inhibitors2
Methylation classifiers: Brain tumors, sarcomas, and what's next2
Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors2
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Gene Expression Profiles of AHNAK2, DCSTAMP, FN1, and TERT Correlate With Mutational Status and Recurrence in Papillary Thyroid Carcinoma2
Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity2
FGFR2::TACC2 fusion as a novel KIT‐independent mechanism of targeted therapy failure in a multidrug‐resistant gastrointestinal stromal tumor2
NF1 Mutated Gastrointestinal Stromal Tumors With Coamplification of 2
Issue Information2
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
Macroscopic Monozygotic Androgenetic/Biparental Mosaicism: Molecular Characterization and Clinical Implications2
A novel colony‐stimulating factor 1 (CSF1) translocation  involving human endogenous retroviral element in a tenosynovial giant cell tumor2
Single‐Cell Profiling of Mononuclear Cells Identifies Transcriptomics Signatures Differentiating Prostate Cancer From Benign Prostatic Hyperplasia2
Pediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma1
Challenging Conventional Perceptions of Oncogenes and Tumor Suppressor Genes: A Comprehensive Analysis of Gene Expression Patterns in Cancer1
Pediatric Erythroid Sarcoma Diagnostically Confirmed by Identification of a Recurrent NFIA::CBFA2T3 Fusion1
YAP1::KMT2A‐Rearranged Sarcoma: Report of a New Case With Unusual Morphology and Immunohistochemical Features1
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Primary mediastinal large B‐cell lymphoma is characterized by large‐scale copy‐neutral loss of heterozygosity1
Related mechanisms, current treatments, and new perspectives in meningioma1
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Clinicopathologic and molecular correlates to neoadjuvant chemotherapy‐induced pathologic response in breast angiosarcoma1
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis1
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Constitutional and acquired genetic variants in ARID5B in pediatric B‐cell precursor acute lymphoblastic leukemia1
Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation1
Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes1
An intraosseous myoepithelial carcinoma with a EWSR1::PBX3 fusion1
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Novel SMARCA2 :: DDIT3 1
Colibactin mutational signatures in NTHL1 tumor syndrome and MUTYH associated polyposis patients1
A novel HMGA2::KITLG fusion in a dedifferentiated liposarcoma with amplification of MDM2 and HMGA21
High‐Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion1
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel1
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Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic1
Profiling Precursor microRNAs of Breast Cancer From Total RNA Sequencing Data to Gain Insights Into Their Roles and Prognostic Values1
Clonal origin and genomic diversity in Lynch syndrome‐associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H1
Molecular Classification of Resected Primary Duodenal Adenocarcinoma1
Comparative DNA Methylation Profiling of Human and Murine ALK‐Positive B‐Cell Neoplasms1
Widening the Spectrum of Fusion Events in Schwannoma: Identification of a Novel TANC1::HTRA1 Fusion1
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Pediatric Mesenchymal Tumor With MN1::TAF3 Fusion1
Primary Sweat Gland Adenocarcinoma of the Skin With ATL2::PRKD3 Fusion: A Potential Cutaneous Analog of Cribriform Adenocarcinoma of the Salivary Glands?1
17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas1
Rethinking cancer initiation: The role of large‐scale mutational events1
Standardizing analysis of intra‐tumoral heterogeneity with computational pathology1
The Transcriptomic and Gene Fusion Landscape of Pleomorphic Salivary Gland Adenomas1
Transcriptomic profiles‐based approach to decode the role of miR‐122 in triple negative breast cancer1
The novel finding of an FGFR1::TACC1 fusion in an undifferentiated spindle cell sarcoma of soft tissue with aggressive clinical course1
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neoplasm1
NR1D1::MAML1 epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy: A case report and review of the literature1
COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation1
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