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 2022-06-01 to 2026-06-01.)
ArticleCitations
60
IGH::IL3‐Rearranged B‐Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant40
Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer35
35
The Role of RB1 and Secondary Genomic Changes in the Development of Spindle Cell and Pleomorphic Lipomas24
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior23
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion23
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck20
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein20
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?20
19
Issue Information19
19
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence18
Uterine Myxoid Mesenchymal Tumor With a Novel SS18::VEZF1 Gene Fusion, Lacking Worrisome Histological Features17
Issue Information17
Issue Information17
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth17
Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF‐/MEK‐inhibitor treatment—A case report and review of the literature17
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart16
Correction to “Temporal Trends and Regional Variability in BRAF and KRAS Genetic Testing in Denmar16
16
ERRATUM16
15
GLI1 ‐Altered Mesenchymal Tumor of the Duodenum With a Novel TNFAIP3::GLI1 13
Transcript‐Specific DNA Methylation Alterations of the RASSF1 13
13
Spindle Cell Rhabdomyosarcoma of Oral Cavity With TCF12::VGLL3 Fusion, Expanding on a Recently Described Entity With Digital Spatial Profiling and Long‐T13
Issue Information13
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation13
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant12
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion11
11
Novel Resistance Mechanisms to Second‐Generation EGFR Tyrosine Kinase Inhibitor Afatinib and Associations With Genomic Features in 11
VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features11
11
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature11
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome11
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study10
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance10
Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features10
10
Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions10
TRAF7 ‐Mutated Fibromyxoid Spindle Cell Tumor of Bone: An Osseous Case Expanding the Spectrum of <10
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping10
Digital pathology systems enabling quality patient care10
10
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma10
Expanding the Morphologic and Molecular Spectrum of Spindle Cell Tumors Associated With TERT Fusions10
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma10
The t(X;5)(q13;q33) Translocation in Myeloid Neoplasms Is Preferentially Associated With Chronic Myelomonocytic Leukemia: A Report From the Groupe Fr10
3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG110
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall9
Issue Information9
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
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature9
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis9
Clinical and Pathologic Description of Three Aneurysmal Bone Cyst Cases With Novel USP6 Fusion Partners Including SEC24D 9
9
Issue Information8
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors8
8
Myeloid Neoplasms With a t(5;12)(q31;p13) and an Associated ETV6 :: ACSL6 Gene Fusion Are Diagnostically C8
Clear Cell Chondrosarcoma With Somatic VHL Inactivation: A Case Report With Integrated Genomic and Transcriptomic Analysis8
A Bibliometric Analysis on the Risk Factors of Cancer8
Issue Information8
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer8
Causative Role for a BRCA2 Germline Pathogenic Variant in External Auditory Canal Squamous Cell Ca8
Synovial Sarcoma With BRAF V600E Mutation: A Case Report and Literature Review8
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification8
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer8
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide8
Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications8
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma8
Resurfacing Threats: Metastatic Ossifying Fibromyxoid Tumor Emerging After Almost Two Decades8
Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation7
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene7
7
How to use AI in pathology7
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
Issue Information7
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm7
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
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spec7
Issue Information7
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration7
Issue Information6
Issue Information6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor6
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors6
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA26
Rhabdomyosarcoma With Alveolar Morphology and a Novel NCOA1::ZNF143 Fusion in a 4‐Year‐Old Girl: A Case Report6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!6
Durable Response to Pazopanib (Tyrosine Kinase Inhibitor) in a Patient With EWSR1::CREM Gene Fusion Positive Intra‐Abdominal Unclassified Epithelioid Sar6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia6
Issue Information6
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review6
Adult Type Lipoblastoma With a Predominantly Fibroblastic Morphology and a Novel DLEU2::PLAG1 Gene Rearrangement: Two Cases of a Rare Entity6
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review6
“Benign” Metastasizing Fibrous Histiocytoma Harboring PRKCD Gene Fusions With Malignant Clinical Course6
Issue Information5
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
Clear Cell Tumor With MITF::CREM Fusion: A Rare Case Report of a Newly Described Entity5
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report5
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors5
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
Molecular Landscape of TP53 / RB1 Co‐Altered Tumors Uncovers Emerging Therapeutic Vulnerabilities5
Cell Senescence and the Genetics of Melanoma Development5
Issue Information5
5
Spatial Dynamics of Tumor Cell Plasticity in Lung Adenocarcinoma Revealed by Region‐Specific Single Cell Transcriptomics5
Issue Information5
PLAG1‐Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?5
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer5
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor5
Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions5
Secondary Genetic Alterations in Extraskeletal Myxoid Chondrosarcoma5
5
Susanne M. Gollin, PhD, Sept 22, 1953–April 6, 20255
Sporadic Breast Angiosarcoma With MYC Amplification on Extrachromosomal Circular DNA Detected Using Nanopore Sequencing in an Adolescent Female4
Complete mimicry: Rhabdomyosarcoma with FUS::TFCP2 fusion masquerading as carcinoma—diagnostic challenge and report of two cases4
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia4
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
EWSR1 Rearrangements in Basaloid Neoplasms With Adnexal Differentiation4
Novel HMGA2::COL14A1 Fusion Identified in Xanthogranulomatous Epithelial Tumor/Keratin‐Positive Giant Cell Tumor4
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
Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing4
4
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
A case of spindle cell rhabdomyosarcoma with a ZFP64::NCOA3 fusion4
Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones4
A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion4
4
Corrigendum4
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome4
Spindle cell neoplasms with novel LTK fusion – Expanding the spectrum of kinase fusion‐positive soft tissue tumors4
Correction to “ EWSR1 :: SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of th4
GAB1::ABL1 fusions define a distinctive soft tissue neoplasm, with variable perineurial differentiation, and a predilection for children and young adults4
Characterization of Pediatric Acute Myeloid Leukemia With t(7;12)(q36;p13)3
Distinct Signatures of Chromosomal Involvement in 59 251 Translocations Across 58 Tumor Types. A Novel Perspective3
A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion3
A Novel MEIS1::NCOA2 Fusion Gene in Acute Myeloid Leukemia3
BCOR‐Mutated Conventional and Dedifferentiated Chondrosarcoma: A Clinicopathologic Study3
Novel EWSR1 :: TEAD3 Fusion in an Adolescen3
Development and validation of blood tumor mutational burden reference standards3
Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?3
3
TFG::MET‐rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low‐grade triphasic morphology3
DICER1‐mutated rhabdomyosarcoma of the ovary with teratoid features3
Vanished MDM2 amplification in multiple recurrences of an irradiated poorly differentiated sarcoma with amplified TRIO::TERT fusion gene3
Detecting Rare ALK Gene Fusions in Unclassified Spindle Cell Lung Tumors Using Anchored Multiplex PCR 3
3
The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non‐AML myeloid neoplasms3
Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies3
A Novel JAK2 Fusion in T‐Cell Prolymphocytic Leukemia3
Shallow whole‐genome sequencing of bone marrow aspirates in myelodysplastic neoplasms: A retrospective comparison with cytogenetics3
Pseudoglandular Schwannoma With FUS::KLF17 Fusion: Broadening the Spectrum of FUS‐Associated Tumors2
Schwann Cells Deficient in Neurofibromin Lack Sensitivity to Their Biomechanical Microenvironment2
A novel STRN3::PRKD1 fusion in a cribriform adenocarcinoma of salivary gland with high‐grade transformation2
2
Issue Information2
Complementary value of molecular analysis to expert review in refining classification of uncommon soft tissue tumors2
2
Discovery of Cis‐Regulatory Mechanisms via Non‐Coding Mutations in Acute Lymphoblastic Leukemia2
Novel SMARCA4 :: VEZF1 Rearrangement in Pediatric Sarcomas2
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
Issue Information2
NF1 Mutated Gastrointestinal Stromal Tumors With Coamplification of 2
An Inflammatory Myofibroblastic Tumor With a Novel ALKV1180L Mutation Leading to Acquired Resistance to Tyrosine Kinase Inhibitors2
2
Genomic profiling of pleomorphic rhabdomyosarcoma reveals a genomic signature distinct from that of embryonal rhabdomyosarcoma2
A novel colony‐stimulating factor 1 (CSF1) translocation  involving human endogenous retroviral element in a tenosynovial giant cell tumor2
A case of FN1‐fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene2
Single‐Cell Profiling of Mononuclear Cells Identifies Transcriptomics Signatures Differentiating Prostate Cancer From Benign Prostatic Hyperplasia2
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
Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity2
Spindle Cell Sarcoma With Novel JAZF1::NUDT5 Gene Fusion: Report of a Previously Undescribed Neopl1
Issue Information1
Gene Expression Profiles of AHNAK2, DCSTAMP, FN1, and TERT Correlate With Mutational Status and Recurrence in Papillary Thyroid Carcinoma1
Biallelic NF1 Inactivation and Widespread Loss of Heterozygosity in a Subset of Unclassified Fibro1
Molecular Classification of Resected Primary Duodenal Adenocarcinoma1
ANNOUNCEMENT1
Primary mediastinal large B‐cell lymphoma is characterized by large‐scale copy‐neutral loss of heterozygosity1
Novel SMARCA2 :: DDIT3 1
1
An intraosseous myoepithelial carcinoma with a EWSR1::PBX3 fusion1
Clonal origin and genomic diversity in Lynch syndrome‐associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H1
Extrachromosomal DNA Detection and Ultrastructural Profiling in Lung and Colorectal Cancer Models1
Rethinking cancer initiation: The role of large‐scale mutational events1
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
Constitutional and acquired genetic variants in ARID5B in pediatric B‐cell precursor acute lymphoblastic leukemia1
1
Issue Information1
Related mechanisms, current treatments, and new perspectives in meningioma1
COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation1
Novel Fusion Gene Transcripts and Targetable Mutations in High‐Risk B‐ ALL With Exceptional Response to Venetoclax‐Based Therapy1
Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes1
Clinicopathologic and molecular correlates to neoadjuvant chemotherapy‐induced pathologic response in breast angiosarcoma1
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis1
Transcriptomic profiles‐based approach to decode the role of miR‐122 in triple negative breast cancer1
Novel MED15::ATF1 fusion in a pediatric melanoma with spitzoid features and aggressive presentation1
Standardizing analysis of intra‐tumoral heterogeneity with computational pathology1
Comprehensive RNA Sequencing Analysis Reveals Heterogeneous Expression of Epstein–Barr Virus Genes in Gastric Cancer1
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
Comparative DNA Methylation Profiling of Human and Murine ALK‐Positive B‐Cell Neoplasms1
A Novel Targeted Sequence for Chromosome 11p15.5 Maternal Loss in SDHD ‐Related Paragangliomas1
Widening the Spectrum of Fusion Events in Schwannoma: Identification of a Novel TANC1::HTRA1 Fusion1
Macroscopic Monozygotic Androgenetic/Biparental Mosaicism: Molecular Characterization and Clinical Implications1
1
When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion1
A novel HMGA2::KITLG fusion in a dedifferentiated liposarcoma with amplification of MDM2 and HMGA21
Primary Sweat Gland Adenocarcinoma of the Skin With ATL2::PRKD3 Fusion: A Potential Cutaneous Analog of Cribriform Adenocarcinoma of the Salivary Glands?1
The Transcriptomic and Gene Fusion Landscape of Pleomorphic Salivary Gland Adenomas1
Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel1
NR1D1::MAML1 epithelioid and spindle cell sarcoma mimicking pseudomyogenic hemangioendothelioma in core biopsy: A case report and review of the literature1
High‐Grade Uterine Sarcoma: First Report of a MEIS2::FOXO4 Fusion1
17p13 (TP53) Deletions Are Associated With an Aggressive Phenotype but Unrelated to Patient Prognosis in Urothelial Bladder Carcinomas1
1
0.35036301612854