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 2021-05-01 to 2025-05-01.)
ArticleCitations
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion76
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ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations48
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes39
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior38
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Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein24
Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer24
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?23
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Table of Content Volume 60, Number 7, July 202122
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck22
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Issue Information19
Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF‐/MEK‐inhibitor treatment—A case report and review of the literature18
Issue Information18
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart17
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence16
Correction to “Temporal Trends and Regional Variability in BRAF and KRAS Genetic Testing in Denmark (2010–2022): Implications for Precision Medicine”16
Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress16
ERRATUM16
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications15
Issue Information15
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 report15
Issue Information15
Aneurysmal bone cyst with an unusual clinical presentation and a novel VDRUSP6 fusion15
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion14
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VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features14
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine14
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation14
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma13
Issue Information12
Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features12
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant12
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EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature12
Digital pathology systems enabling quality patient care12
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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 PLAG111
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome11
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance11
Issue Information11
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A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma10
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma10
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall10
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Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study10
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping10
Issue Information10
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Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions10
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement10
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit9
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti9
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion9
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors9
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature9
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer9
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis8
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide8
A Bibliometric Analysis on the Risk Factors of Cancer8
Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1SSX2 fusion identified by RNA‐based next‐generation sequencing8
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification7
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer7
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients7
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma7
Issue Information7
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration7
Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes7
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
Issue Information7
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Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications7
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
Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence7
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How to use AI in pathology6
A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS‐NFATC1/2 fusions6
Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!6
Issue Information6
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm6
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FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia6
Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity6
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA26
Genomic and transcriptomic characterization of desmoplastic small round cell tumors6
Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing6
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review6
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review6
Loss of smarcad1a accelerates tumorigenesis of malignant peripheral nerve sheath tumors in zebrafish6
The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development5
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors5
Transposable element insertion as a mechanism of SMARCB1 inactivation in atypical teratoid/rhabdoid tumor5
Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions5
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer5
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
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report5
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Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal 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
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
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 A4
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia4
Corrigendum4
Gene fusions in gastrointestinal tract cancers4
A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion4
Cell Senescence and the Genetics of Melanoma Development4
GAB1‐ABL1 fusions in tumors that have histologic overlap with NTRKrearranged spindle cell tumors4
Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas4
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort4
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing4
Corrigendum4
Issue Information4
Neuregulin 1 (NRG1) fusion‐positive high‐grade spindle cell sarcoma: A distinct group of soft tissue tumors with metastatic potential4
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer4
Sporadic Breast Angiosarcoma With MYC Amplification on Extrachromosomal Circular DNA Detected Using Nanopore Sequencing in an Adolescent Female4
Issue Information4
Complete mimicry: Rhabdomyosarcoma with FUS::TFCP2 fusion masquerading as carcinoma—diagnostic challenge and report of two cases4
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Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor4
GAB1::ABL1 fusions define a distinctive soft tissue neoplasm, with variable perineurial differentiation, and a predilection for children and young adults3
MYH9::LTK Fusion in a Pediatric Acral Soft Tissue Spindle Cell Neoplasm3
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS/RAF mutations3
Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones3
Issue Information3
Development and validation of blood tumor mutational burden reference standards3
DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features3
Shallow whole‐genome sequencing of bone marrow aspirates in myelodysplastic neoplasms: A retrospective comparison with cytogenetics3
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Corrigendum3
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I3
Frequent breakpoints of focal deletion and uniparental disomy in 22q11.1 or 11.2 segmental duplication region reveal distinct tumorigenesis in rhabdoid tumor of the kidney3
Low‐grade endometrial stromal sarcoma‐like tumors in male with JAZF1 gene fusions3
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome3
Spindle cell neoplasms with novel LTK fusion – Expanding the spectrum of kinase fusion‐positive soft tissue tumors3
A novel HNRNPH1::ERG rearrangement in aggressive acute myeloid leukemia3
A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion3
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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Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin‐Positive Giant Cell Tumor3
N‐terminus DUX4‐immunohistochemistry is a reliable methodology for the diagnosis of DUX4fused B‐lymphoblastic leukemia/lymphoma (N‐terminus DUX4 IHC for DUX4<3
FGFR1 gene fusions in a subset of pediatric mesenchymal tumors: Expanding the genetic spectrum of tumors sharing histologic overlap with infantile fibrosarcoma and “NTRK<3
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 mesenchyma3
Soft‐tissue sarcoma with MN1‐BEND2 fusion: A case report and comparison with astroblastoma3
The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non‐AML myeloid neoplasms3
TFG::MET‐rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low‐grade triphasic morphology3
A Novel JAK2 Fusion in T‐Cell Prolymphocytic Leukemia3
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)3
Vanished MDM2 amplification in multiple recurrences of an irradiated poorly differentiated sarcoma with amplified TRIO::TERT fusion gene3
Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis3
A case of spindle cell rhabdomyosarcoma with a ZFP64::NCOA3 fusion3
MicroRNA‐192‐5p inhibits migration of triple negative breast cancer cells and directly regulates RhoGTPaseactivating protein 192
Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity2
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Genomic profiling of pleomorphic rhabdomyosarcoma reveals a genomic signature distinct from that of embryonal rhabdomyosarcoma2
Mismatch repair deficiency: The what, how and why it is important2
Issue Information2
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Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation2
COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation2
An Inflammatory Myofibroblastic Tumor With a Novel ALKV1180L Mutation Leading to Acquired Resistance to Tyrosine Kinase Inhibitors2
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
Discovery of Cis‐Regulatory Mechanisms via Non‐Coding Mutations in Acute Lymphoblastic Leukemia2
Erratum2
Comprehensive analyses of microRNA and mRNA expression in colorectal serrated lesions and colorectal cancer with a microsatellite instability phenotype2
FGFR2::TACC2 fusion as a novel KIT‐independent mechanism of targeted therapy failure in a multidrug‐resistant gastrointestinal stromal tumor2
Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies2
When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion2
ANNOUNCEMENT2
Gene Expression Profiles of AHNAK2, DCSTAMP, FN1, and TERT Correlate With Mutational Status and Recurrence in Papillary Thyroid Carcinoma2
Issue Information2
Schwann Cells Deficient in Neurofibromin Lack Sensitivity to Their Biomechanical Microenvironment2
Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors2
A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene2
A novel colony‐stimulating factor 1 (CSF1) translocation  involving human endogenous retroviral element in a tenosynovial giant cell tumor2
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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
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?2
A novel STRN3::PRKD1 fusion in a cribriform adenocarcinoma of salivary gland with high‐grade transformation2
Issue Information2
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neoplasm2
Methylation classifiers: Brain tumors, sarcomas, and what's next2
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
Issue Information2
17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas1
The novel finding of an FGFR1::TACC1 fusion in an undifferentiated spindle cell sarcoma of soft tissue with aggressive clinical course1
A novel HMGA2::KITLG fusion in a dedifferentiated liposarcoma with amplification of MDM2 and HMGA21
Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes1
Standardizing analysis of intra‐tumoral heterogeneity with computational pathology1
High‐Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion1
Clinicopathologic and molecular correlates to neoadjuvant chemotherapy‐induced pathologic response in breast angiosarcoma1
Related mechanisms, current treatments, and new perspectives in meningioma1
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis1
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Translocation carcinomas of the kidney1
Constitutional and acquired genetic variants in ARID5B in pediatric B‐cell precursor acute lymphoblastic leukemia1
Primary mediastinal large B‐cell lymphoma is characterized by large‐scale copy‐neutral loss of heterozygosity1
Issue Information1
Issue Information1
Pediatric Fibromatosis Lacks the Internal Tandem Duplication of EGFR Seen in Congenital Mesoblastic Nephroma1
Gastrointestinal stromal tumors withBRAFgene fusions. A report of two cases showing low or absentKITexpression resulting in diagnostic pitfalls1
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic1
Transcriptomic profiles‐based approach to decode the role of miR‐122 in triple negative breast cancer1
Challenging Conventional Perceptions of Oncogenes and Tumor Suppressor Genes: A Comprehensive Analysis of Gene Expression Patterns in Cancer1
An intraosseous myoepithelial carcinoma with a EWSR1::PBX3 fusion1
Sarcomas with sclerotic epithelioid phenotype harboring novel EWSR1‐SSX1 fusions1
Profiling Precursor microRNAs of Breast Cancer From Total RNA Sequencing Data to Gain Insights Into Their Roles and Prognostic Values1
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NR1D1::MAML1 epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy: A case report and review of the literature1
Clonal origin and genomic diversity in Lynch syndrome‐associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H1
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Rethinking cancer initiation: The role of large‐scale mutational events1
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel1
The Transcriptomic and Gene Fusion Landscape of Pleomorphic Salivary Gland Adenomas1
Clinicopathological features and resistance mechanisms in HIP1‐ALK‐rearranged lung cancer: A multicenter study1
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