OOIR: Observatory of International Research

Papers

(The TQCC of Genes Chromosomes & Cancer is 5. 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 2021-07-01 to 2025-07-01.)

Article	Citations
	82
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes	49
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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 cancer	39
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?	39
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations	27
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein	25
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion	25
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior	24
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck	23
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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 literature	20
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence	18
Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress	18
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications	17
ERRATUM	17
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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
Issue Information	16
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth	16
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart	16
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma	15

Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation	15
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Aneurysmal bone cyst with an unusual clinical presentation and a novel VDR‐USP6 fusion	14
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine	14
Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report	14
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion	14
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature	13
VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features	13
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant	13
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A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma	12
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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 PLAG1	11
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study	11
Issue Information	11
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement	11
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping	11
Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features	11
Digital pathology systems enabling quality patient care	11
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Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma	11
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome	11
Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions	11
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance	11
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion	10
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Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1‐SSX2 fusion identified by RNA‐based next‐generation sequencing	9
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer	9
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature	9
A Bibliometric Analysis on the Risk Factors of Cancer	9
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall	9
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient	9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis	9
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors	9
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti	8
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RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit	8
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Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications	8
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide	8
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration	8
Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes	8
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene	7
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer	7

Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma	7
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma	7
Multiomics to investigate the mechanisms contributing to repression of PTPRC and SOCS2 in pediatric T‐ALL: Focus on miR‐363‐3p and promoter methylation	7
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma	7
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases	7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients	7
Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity	7
Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing	7
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification	7
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum	7
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2	7
Issue Information	7
Loss of smarcad1a accelerates tumorigenesis of malignant peripheral nerve sheath tumors in zebrafish	7
How to use AI in pathology	6
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors	6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors	6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!	6
The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development	6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor	6
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GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review	6
A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS‐NFATC1/2 fusions	6
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NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm	6
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Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review	6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia	6
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report	6
Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions	5
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome	5
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Cell Senescence and the Genetics of Melanoma Development	5
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer	5
Calcifying Spindle Cell Soft Tissue Tumor With SOX10::PLAG1 Fusion: A Case Report of a Morphologically Distinctive and Potentially Novel Soft Tissue Tumor	5
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Metastasizing aneurysmal dermatofibroma initially diagnosed as angiosarcoma confirmed by CD63::PRKCD fusion gene detection with nanopore sequencing	5
Gene fusions in gastrointestinal tract cancers	5
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort	5
Neuregulin 1 (NRG1) fusion‐positive high‐grade spindle cell sarcoma: A distinct group of soft tissue tumors with metastatic potential	5
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 A	5
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors	5
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 dif	5
Corrigendum	5
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia	5
Sporadic Breast Angiosarcoma With MYC Amplification on Extrachromosomal Circular DNA Detected Using Nanopore Sequencing in an Adolescent Female	5
Corrigendum	5
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer	5
Issue Information	5
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 cases	5
Issue Information	5