Genes Chromosomes & Cancer

Papers
(The TQCC of Genes Chromosomes & Cancer is 6. 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 2021-11-01 to 2025-11-01.)
ArticleCitations
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Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes47
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck46
Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer40
IGH::IL3‐Rearranged B‐Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant35
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein28
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion28
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?26
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ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations22
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior22
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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”18
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Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence18
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth17
Uterine Myxoid Mesenchymal Tumor With a Novel SS18::VEZF1 Gene Fusion, Lacking Worrisome Histological Features17
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications16
Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF‐/MEK‐inhibitor treatment—A case report and review of the literature16
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Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress15
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Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart15
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Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report15
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion14
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation13
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma13
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant13
VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features13
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome12
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Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features12
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EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature12
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma11
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study11
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma11
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
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement11
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Digital pathology systems enabling quality patient care10
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors10
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3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG110
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Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping10
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Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient9
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis9
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer9
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti9
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall9
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit8
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Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications8
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature8
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A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification8
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration8
A Bibliometric Analysis on the Risk Factors of Cancer8
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Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases8
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene7
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum7
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm7
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Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation7
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Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer7
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide7
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA27
How to use AI in pathology7
PLAG1‐Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?7
Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma7
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma7
Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes7
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Adult Type Lipoblastoma With a Predominantly Fibroblastic Morphology and a Novel DLEU2::PLAG1 Gene Rearrangement: Two Cases of a Rare Entity7
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!7
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients7
Durable Response to Pazopanib (Tyrosine Kinase Inhibitor) in a Patient With EWSR1::CREM Gene Fusion Positive Intra‐Abdominal Unclassified Epithelioid Sar6
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review6
Secondary Genetic Alterations in Extraskeletal Myxoid Chondrosarcoma6
Susanne M. Gollin, PhD, Sept 22, 1953–April 6, 20256
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report6
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia6
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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
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer6
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors6
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ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors6
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