OOIR: Observatory of International Research

Papers

(The TQCC of Genes Chromosomes & Cancer is 7. 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 2020-05-01 to 2024-05-01.)

Article	Citations
Soft tissue tumors characterized by a wide spectrum of kinase fusions share a lipofibromatosis‐like neural tumor pattern	56
PARP inhibitors in ovarian cancer: An overview of the practice‐changing trials	50
Mismatch repair deficiency: The what, how and why it is important	50
Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias	44
Analysis of mutational signatures with yet another package for signature analysis	38
Translocation carcinomas of the kidney	35
The clinical heterogeneity of round cell sarcomas with EWSR1/FUS gene fusions: Impact of gene fusion type on clinical features and outcome	34
DICER1‐associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing	30
Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor	29
NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms	29
Fusion‐positive non‐small cell lung carcinoma: Biological principles, clinical practice, and diagnostic implications	29
NTRK testing: First results of the QuiP‐EQA scheme and a comprehensive map of NTRK fusion variants and their diagnostic coverage by targeted RNA‐base	28
Epithelioid hemangioma of bone harboring FOS and FOSB gene rearrangements: A clinicopathologic and molecular study	27
Molecular pathogenesis and prognostication of "low‐grade'' and "high‐grade" endometrial stromal sarcoma	24
Impact of immunophenotypic characteristics on genetic subgrouping in childhood acute lymphoblastic leukemia: Tokyo Children's Cancer Study Group (TCCSG) study L04‐16	22
A novel CLTC‐FOSB gene fusion in pseudomyogenic hemangioendothelioma of bone	22
Perivascular epithelioid cell tumors (PEComa) of the gynecologic tract	22
Functional mechanisms of miR‐192 family in cancer	21
Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis	19
Variability in retinoblastoma genome stability is driven by age and not heritability	18
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach	18
Methylation classifiers: Brain tumors, sarcomas, and what's next	17
Novel fusion genes in spindle cell rhabdomyosarcoma: The spectrum broadens	17
Uterine inflammatory myofibroblastic tumor: First report of a ROS1 fusion	17
Homologous recombination deficiency in breast cancer: Implications for risk, cancer development, and therapy	17

Characterization of TERT and BRAF copy number variation in papillary thyroid carcinoma: An analysis of the cancer genome atlas study	16
Homologous recombination repair deficiency (HRD): From biology to clinical exploitation	16
Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP‐BFM acute lymphoblastic leukemia protocol	16
Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine	16
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening	16
Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence	15
Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck	15
Undifferentiated round cell sarcomas with novel SS18‐POU5F1 fusions	15
Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?	15
An update of molecular findings in uterine tumor resembling ovarian sex cord tumor and GREB1‐rearranged uterine sarcoma with variable sex‐cord differentiation	15
Activating genomic alterations in the Gs alpha gene (GNAS) in 274 694 tumors	14
SMARCA2‐NR4A3 is a novel fusion gene of extraskeletal myxoid chondrosarcoma identified by RNA next‐generation sequencing	14
Update on SWI/SNF‐related gynecologic mesenchymal neoplasms: SMARCA4‐deficient uterine sarcoma and SMARCB1‐deficient vulvar neoplasms	14
A low‐grade malignant soft tissue tumor with S100 and CD34 co‐expression showing novel CDC42SE2‐BRAF fusion with distinct features	14
Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms	14
Targeted next generation sequencing of MLH1‐deficient, MLH1 promoter hypermethylated, and BRAF/RAS‐wild‐type colorectal adenocarcinomas	14
PLAG1‐rearrangement in a uterine leiomyosarcoma with myxoid stroma and heterologous differentiation	13
GAB1‐ABL1 fusions in tumors that have histologic overlap with NTRK‐rearranged spindle cell tumors	13
KRAS/GNAS‐testing by highly sensitive deep targeted next generation sequencing improves the endoscopic ultrasound‐guided workup of suspected mucinous neoplasms of the pancreas	13
Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group	13
A genome‐wide study of the relationship between chromosomal abnormalities and gene expression in colorectal tumors	12
Primary myxoid and epithelioid mesenchymal tumor of the kidney with a novel GLI1‐FOXO4 fusion	12
Molecular prognostication of uterine smooth muscle neoplasms: From CGH array to CINSARC signature and beyond	12
MammaPrint and BluePrint comprehensively capture the cancer hallmarks in early‐stage breast cancer patients	12
MYB rearrangements and over‐expression in T‐cell acute lymphoblastic leukemia	12
Central nervous system sarcoma with ATXN1::DUX4 fusion expands the concept of CIC‐rearranged sarcoma	11
Expanding the clinicopathological spectrum of TGFBR3‐PLAG1 rearranged salivary gland neoplasms with myoepithelial differentiation including evidence of high‐grade transformation	11
Fusion‐associated carcinomas of the breast: Diagnostic, prognostic, and therapeutic significance	11
Recurrent PTBP1::MAML2 fusions in composite hemangioendothelioma with neuroendocrine differentiation: A report of two cases involving neck lymph nodes	11
Targeted RNA sequencing in the routine clinical detection of fusion genes in salivary gland tumors	11
Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls	11
Poly(ADP‐ribose) polymerase inhibition in pancreatic cancer	11
A unique epithelioid vascular neoplasm of bone characterized by EWSR1/FUS‐NFATC1/2 fusions	11
Balanced and unbalanced translocations in a multicentric series of 2843 patients with chronic lymphocytic leukemia	10
Single‐cell sequencing in translational cancer research and challenges to meet clinical diagnostic needs	10
MLLT10 rearranged acute leukemia: Incidence, prognosis, and possible therapeutic strategies	10
Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: Evidence for further locus heterogeneity	10
CARMN‐NOTCH2 fusion transcript drives high NOTCH2 expression in glomus tumors of the upper digestive tract	10
Detection of MEAF6‐PHF1 translocation in an endometrial stromal nodule	10
RREB1‐MKL2 fusion in a spindle cell sinonasal sarcoma: biphenotypic sinonasal sarcoma or ectomesenchymal chondromyxoid tumor in an unusual site?	10
Single nucleotide polymorphism array‐based signature of low hypodiploidy in acute lymphoblastic leukemia	10
Sarcomas with sclerotic epithelioid phenotype harboring novel EWSR1‐SSX1 fusions	9
Germline MUTYH mutations and high‐grade gliomas: Novel evidence for a potential association	9
Novel morphologic findings in PLAG1‐rearranged soft tissue tumors	9
Spindle cell neoplasm with EML4‐ALK gene fusion presenting as an intraosseous vertebral mass	9
Characterization of genetically defined sporadic and hereditary type 1 papillary renal cell carcinoma cell lines	9
Sclerosing TSC1 mutated renal cell carcinoma: An unusual pattern mimicking MITF family translocation renal cell carcinoma	9
Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition	9
Poorly differentiated chordoma with whole‐genome doubling evolving from a SMARCB1‐deficient conventional chordoma: A case report	9
circPVT1 and PVT1/AKT3 show a role in cell proliferation, apoptosis, and tumor subtype‐definition in small cell lung cancer	9

Dedifferentiated secretory breast carcinoma with fibrosarcomatous features harboring an ETV6‐NTRK3 fusion in both components	9
Chromosomal instability upregulates interferon in acute myeloid leukemia	8
Prognostic significance of the MDM2/HMGA2 ratio and histological tumor grade in dedifferentiated liposarcoma	8
Quantification of NG2‐positivity for the precise prediction of KMT2A gene rearrangements in childhood acute leukemia	8
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 mesenchyma	8
Activation of PLAG1 and HMGA2 by gene fusions involving the transcriptional regulator gene NFIB	8
Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR‐ABL1, a Swedish population‐based study	8
Identification of tumors with NRG1 rearrangement, including a novel putative pathogenic UNC5D‐NRG1 gene fusion in prostate cancer by data‐drilling a de‐identified t	8
Gene fusions characterize a subset of uterine cellular leiomyomas	8
Fusion‐positive salivary gland carcinomas	8
Clinicopathologic and survival correlates of embryonal rhabdomyosarcoma driven by RAS/RAF mutations	8
EWSR1::YY1 fusion positive peritoneal epithelioid mesothelioma harbors mesothelioma epigenetic signature: Report of 3 cases in support of an emerging entity	8
A novel BRD4‐LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expression	8
Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer	8
Survey of germline variants in cancer‐associated genes in young adults with colorectal cancer	8
Recurrent loss of chromosome 22 and SMARCB1 deletion in extra‐axial chordoma: A clinicopathological and molecular analysis	8
BRAF V600E and previously unidentified KRAS G12C mutations in odontogenic tumors may affect MAPK activation differently depending on tumor type	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
Novel CTNND2‐TERT fusion in a spindle cell liposarcoma	8
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‐ce	7
A novel SMARCA2‐CREM fusion expending the molecular spectrum of salivary gland hyalinazing clear cell carcinoma beyond the FET genes	7
Clinicopathological features and resistance mechanisms in HIP1‐ALK‐rearranged lung cancer: A multicenter study	7
Advances in sarcoma molecular diagnostics	7
Germline testing for homologous recombination repair genes—opportunities and challenges	7
Molecular investigation of ALK‐rearranged epithelioid fibrous histiocytomas identifies CLTC as a novel fusion partner and evidence of fusion‐independent transcripti	7
ALK‐rearranged Mesenchymal Neoplasms: A Report of 9 cases Further Expanding the Clinicopathologic Spectrum of Emerging Kinase Fusion Positive Group of Tumors	7
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome	7
N‐terminus DUX4‐immunohistochemistry is a reliable methodology for the diagnosis of DUX4‐fused B‐lymphoblastic leukemia/lymphoma (N‐terminus DUX4 IHC for DUX4<	7
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome	7
High‐risk cytogenetics in multiple myeloma: Further scrutiny of deletions within the IGH gene region enhances risk stratification	7
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 dual	7
Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia‐variant	7
Molecular analysis of 10 pleomorphic rhabdomyosarcomas reveals potential prognostic markers and druggable targets	7