OOIR: Observatory of International Research

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 2021-08-01 to 2025-08-01.)

Article	Citations
	85
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes	49
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations	41
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Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion	39
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein	31
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?	26
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior	25
Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer	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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Issue Information	18
ERRATUM	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	18
Correction to “Temporal Trends and Regional Variability in BRAF and KRAS Genetic Testing in Denmark (2010–2022): Implications for Precision Medicine”	17
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth	17
Issue Information	17
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart	17
Issue Information	16
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence	16
Near complete remission of an inoperable pancreatic acinar cell carcinoma after BRAF‐/MEK‐inhibitor treatment—A case report and review of the literature	16
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Issue Information	15

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report	14
Aneurysmal bone cyst with an unusual clinical presentation and a novel VDR‐USP6 fusion	14
Issue Information	14
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine	14
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion	13
Epithelioid hemangioendothelioma (EHE) with WWTR1::TFE3 gene fusion, a novel fusion variant	13
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma	13
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature	13
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Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation	12
Issue Information	12
VIM::KMT2A‐rearranged sarcomas: A report of two new cases confirming an entity with distinct histologic features	12
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Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features	11
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma	11
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance	11
3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG1	11
Digital pathology systems enabling quality patient care	11
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma	11
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement	11
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study	11
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping	11
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient	10
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Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions	10
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Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome	10
A Bibliometric Analysis on the Risk Factors of Cancer	9
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion	9
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors	9
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature	9
Issue Information	9
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer	9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis	9
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall	9
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti	9
Issue Information	8
Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications	8
Undifferentiated sarcoma of bone with a round to epithelioid cell phenotype harboring a novel EWSR1‐SSX2 fusion identified by RNA‐based next‐generation sequencing	8
Issue Information	8
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma	8
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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Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes	8
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases	7
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration	7
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene	7
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum	7

Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing	7
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer	7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients	7
Loss of smarcad1a accelerates tumorigenesis of malignant peripheral nerve sheath tumors in zebrafish	7
Issue Information	7
POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2	7
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification	7
Influence of Cytogenetics on the Outcome of Patients With High‐Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide	7
Ovarian germ cell tumor/mastocytosis with KIT mutation: A unique clinicopathological entity	7
Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma	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
Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma	7
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review	6
Issue Information	6
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors	6
How to use AI in pathology	6
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors	6
A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS‐NFATC1/2 fusions	6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia	6
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer	6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor	6
Issue Information	6
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review	6
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm	6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors	6
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	6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!	6
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The novel KIT exon 11 germline mutation K558N is associated with gastrointestinal stromal tumor, mastocytosis, and seminoma development	6