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 2021-12-01 to 2025-12-01.)

Article	Citations
	101
MDM4 amplification in atypical lipomatous tumors/well‐differentiated liposarcoma: Private event or alternative oncogenic mechanism?	49
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations	48
Polymorphisms of the PD‐L1 gene 3′‐untranslated region are associated with the expression of PD‐L1 in non‐small cell lung cancer	42
	36
Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion	28
IGH::IL3‐Rearranged B‐Cell Precursor Acute Lymphoblastic Leukemia With Hypereosinophilia in a Child With a Novel PAX5 Germline Variant	28
Insertion of the CXXC domain of KMT2A into YAP1: An unusual mechanism behind the formation of a chimeric oncogenic protein	26
Uncovering variable neoplasms between ATM protein‐truncating and common missense variants using 394 694 UK Biobank exomes	22
	22
An SS18::NEDD4 cutaneous spindled and epithelioid sarcoma: An hitherto unclassified cutaneous sarcoma, resembling epithelioid sarcoma with aggressive clinical behavior	22
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck	22
	19
ERRATUM	19
Correction to “Temporal Trends and Regional Variability in BRAF and KRAS Genetic Testing in Denmark (2010–2022): Implications for Precision Medicine”	18
Uterine Myxoid Mesenchymal Tumor With a Novel SS18::VEZF1 Gene Fusion, Lacking Worrisome Histological Features	18
Issue Information	18
Issue Information	18
Comprehensive Analyses of Somatic Copy Number Alterations and Mutations Based on the Adenoma–Carcinoma Sequence	18
Issue Information	18
Ewing sarcoma and related FET family translocation‐associated round cell tumors: A century of clinical and scientific progress	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
Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report	15
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications	15
Issue Information	15

Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart	15
	15
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth	15
	14
Issue Information	14
Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion	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
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation	13
	12
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome	12
EWSR1::SSX1 Fusion‐Driven Synovial Sarcoma: A Case Presentation and Review of the Literature	12
Clear cell mesotheliomas with inactivating VHL mutations and near‐haploid genomic features	12
	12
ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma	12
Untying the Gordian knot of composite hemangioendothelioma: Discovery of novel fusions	12
Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma	11
Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping	11
Low‐Level BCR::ABL1 Transcript at Diagnosis in Childhood Leukemia: A 10‐Year Single Institution Study	11
The presence of a chromosomal abnormality in cytopenia without dysplasia identifies a category of high‐risk clonal cytopenia of unknown significance	11
Issue Information	10
	10
3′RNA and whole‐genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG1	10
	10
Novel Resistance Mechanisms to Second‐Generation EGFR Tyrosine Kinase Inhibitor Afatinib and Associations With Genomic Features in	10
A Clinicopathologic and Molecular Reappraisal of Myxoinflammatory Fibroblastic Sarcoma—A Controversial and Pathologically Challenging Low‐Grade Sarcoma	10
	10
Expanding the spectrum of mesenchymal neoplasms with NR1D1‐rearrangement	10
Digital pathology systems enabling quality patient care	10
Whole genome duplication in oral squamous cell carcinoma in patients younger than 50 years: implications for prognosis and adverse clinicopathological factors	9
The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis	9
Identification of a novel SH3PXD2B::FER fusion in a case of plexiform myofibroblastic tumor and review of the literature	9
Fibromyxoid aSoft Tissue Tumor With PLAG1 Fusion—The First Case in an Adult Patient	9
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti	9
	9
RREB1::MRTFB fusion‐positive extra‐glossal mesenchymal neoplasms: A series of five cases expanding their anatomic distribution and highlighting significant morphological and phenotypic diversit	9
IDH‐negative chondrosarcoma with metachronous dedifferentiation only in the metastatic site—A diagnostic pitfall	9
Issue Information	8
A case of a lipoblastoma with EEF1A1::PLAG1 fusion and metaplastic ossification	8
MicroRNA Expression in High‐Grade B‐Cell Lymphoma With 11q Aberration	8
A Bibliometric Analysis on the Risk Factors of Cancer	8
Issue Information	8
Gene amplification in neoplasia: A cytogenetic survey of 80 131 cases	8
Spindle Cell Rhabdomyosarcoma of the Prostate With ZFP64::NCOA2 Fusion	8
	8
Tyrosine kinase‐altered spindle cell neoplasms with EGFR internal tandem duplications	8
A cloud‐based resource for genome coordinate‐based exploration and large‐scale analysis of chromosome aberrations and gene fusions in cancer	8
Prevalence and Reclassification of Genetic Variants in South African Populations with Breast Cancer	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

POU2AF3‐rearranged sarcomas: A novel tumor defined by fusions of EWSR1 or FUS to a gene formerly designated COLCA2	7
Adult Type Lipoblastoma With a Predominantly Fibroblastic Morphology and a Novel DLEU2::PLAG1 Gene Rearrangement: Two Cases of a Rare Entity	7
PLAG1‐Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?	7
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma	7
Resurfacing Threats: Metastatic Ossifying Fibromyxoid Tumor Emerging After Almost Two Decades	7
Issue Information	7
Issue Information	7
NovelHNRNPM::LEUTXfusion resulting from chromothripsis of chromosome 19 in a pediatric undifferentiated small round cell neoplasm	7
Issue Information	7
Rhabdomyosarcoma With EWSR1::NF2 Gene Fusion: A Case Report Potentially Expanding Its Genetic Spectrum	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
Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes	7
Refined cytogenetic IPSS‐R evaluation by the use of SNP array in a cohort of 290 MDS patients	7
Nanopore DNA Sequencing Detected Chromothripsis‐Induced PAFAH1B1::USP6 Rearrangement in Periosteal Solid Aneurysmal Bone Cyst Initially Diagnosed as Osteosarcoma	7
PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene	7
How to use AI in pathology	7
	7
TAF15::NR4A3 gene fusion identifies a morphologically distinct subset of extraskeletal myxoid chondrosarcoma mimicking myoepithelial tumors	6
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case‐based review	6
“Benign” Metastasizing Fibrous Histiocytoma Harboring PRKCD Gene Fusions With Malignant Clinical Course	6
A novel IRF2BP2::CDX2 Gene fusion in digital intravascular myoepithelioma of soft tissue: An enigma!	6
Adolescent presentation of FGFR1::EBF2 gene fusion mesenchymal tumor	6
FIP1L1::PDGFRA Fusion in a Pediatric Patient Presenting With B‐Cell Lymphoblastic Leukemia	6
Issue Information	6
Durable Response to Pazopanib (Tyrosine Kinase Inhibitor) in a Patient With EWSR1::CREM Gene Fusion Positive Intra‐Abdominal Unclassified Epithelioid Sar	6
Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors	6
GLI1, CDK4, and MDM2 Co‐Amplification Gastric Plexiform Fibromyxoma: A Case Report and Literature Review	6
Issue Information	5
Issue Information	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
	5
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors	5
Corrigendum	5
Complete mimicry: Rhabdomyosarcoma with FUS::TFCP2 fusion masquerading as carcinoma—diagnostic challenge and report of two cases	5
Soft‐tissue sarcoma with MN1‐BEND2 fusion: A case report and comparison with astroblastoma	5
Cell Senescence and the Genetics of Melanoma Development	5
	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
Uncovering the WWTR1::NCOA2 Gene fusion in low‐grade myoepithelial‐rich neoplasm with HMGA2 expression: A case report	5
Giemsa‐negative chromosome bands preferentially recombine in cancer‐associated translocations and gene fusions	5
	5
Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas	5
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome	5
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer	5
Secondary Genetic Alterations in Extraskeletal Myxoid Chondrosarcoma	5
Susanne M. Gollin, PhD, Sept 22, 1953–April 6, 2025	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
Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort	5
Corrigendum	5
Increased MYB alternative promoter usage is associated with relapse in acute lymphoblastic leukemia	5