5,571 results match your criteria fish fusion

Clinical Implications of a Targeted RNA Sequencing Panel in the Detection of Gene Fusions in Solid Tumors.

J Mol Diagn 2021 Sep 22. Epub 2021 Sep 22.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri. Electronic address:

The detection of recurrent gene fusions can help confirm diagnoses in solid tumors, particularly when the morphology and staining are unusual or nonspecific, and can guide therapeutic decisions. While fluorescence in situ hybridization (FISH) and PCR are often used to identify fusions, the rearrangement must be suspected, with only a few prioritized probes run. We hypothesized that the Illumina TruSight RNA Fusion Panel, which detects fusions of 507 genes and their partners, would uncover fusions with greater sensitivity than other approaches, leading to changes in diagnosis, prognosis, or therapy. Read More

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September 2021

Molecular insights of a novel fish Toll-like receptor 9 homologue in Nibea albiflora to reveal its function as PRRs.

Fish Shellfish Immunol 2021 Sep 20;118:321-332. Epub 2021 Sep 20.

National and Provincial Joint Laboratory of Exploration and Utilization of Marine Aquatic Genetic Resources, National Engineering Research Center of Marine Facilities Aquaculture, Zhejiang Ocean University, Zhoushan, 316022, PR China.

Toll-like receptors (TLRs) are an important class of molecules involved in non-specific immunity, and they are also the bridge connecting between non-specific immunity and specific immunity. As a vital member of TLR family TLR9 can be activated by bacterial DNA and induce the production of inflammatory cytokines. In this study, a full length of TLR9 homologue of 3677 bp in Nibea albiflora (named as NaTLR9, GenBank accession no: MN125017. Read More

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September 2021

Next generation sequencing - a science tool or routine pathology?

Cesk Patol 2021 ;57(3):136-143

Molecular assays for translocation detection in different tumors have gradually been incorporated into routine diagnostics. However, conventional methods such as fluorescence in situ hybridization (FISH) and reverse transcriptase-PCR come with several drawbacks. Next-generation sequencing (NGS) can provide in-depth detection of numerous gene alterations. Read More

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September 2021

Adenoid cystic carcinoma and basaloid carcinoma of the breast: A clinicopathological study.

Rev Esp Patol 2021 Oct-Dec;54(4):242-249. Epub 2020 Dec 31.

Hospital Universitario Quiron Dexeus, Pathology, Barcelona, Spain.

Adenoid cystic carcinoma of the breast (ACCB) is a rare triple negative tumor (TNT) with an excellent prognosis in most cases. Three different histologic types are recognized: classic ACCB, solid basaloid ACCB (SB-ACCB), and ACCB with high-grade transformation. A majority of these tumors show characteristic molecular and immunohistochemical (IHC) features, with fusion of MYB and NFIB genes and overexpression of MYB, respectively. Read More

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December 2020

Mechanical role of actinotrichia in shaping the caudal fin of zebrafish.

Dev Biol 2021 Sep 16. Epub 2021 Sep 16.

Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan. Electronic address:

Spear-like collagen complexes, known as actinotrichia, underlie the epidermal cell layer in the tip of teleost fins and are known to contribute toward fin formation; however, their specific role remains largely unclear. In this study, we investigated of actinotrichia in the role of caudal fin formation by generating collagen9a1c (col9a1c)-knockout zebrafish. Although actinotrichia were initially produced normally and aligned correctly in the knockout fish, the number of actinotrichia decreased as the fish grew and their alignment became disordered. Read More

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September 2021

Optimising fusion detection through sequential DNA and RNA molecular profiling of non-small cell lung cancer.

Lung Cancer 2021 Aug 25;161:55-59. Epub 2021 Aug 25.

CRUK Lung Cancer Centre of Excellence, UCL Cancer Institute, UCL, London, United Kingdom; Department of Oncology, University College London Hospitals NHS Foundation Trust, London, United Kingdom. Electronic address:

Objectives: There is an increasing number of driver fusions in NSCLC which are amenable to targeted therapy. Panel testing for fusions is increasingly appropriate but can be costly and requires adequate good quality biopsy material. In light of the typical mutual exclusivity of driver events in NSCLC, the objective of this study was to trial a novel testing pathway, supported by industrial collaboration, in which only patients negative for driver mutations on DNA-NGS were submitted for fusion panel analysis. Read More

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Identification of variant APL translocations PRKAR1A-RARα and ZBTB16-RARα (PLZF-RARα) through the MI-ONCOSEQ platform.

Cancer Genet 2021 Aug 25;258-259:57-60. Epub 2021 Aug 25.

Division of Hematology and Medical Oncology, Department of Internal Medicine, Michigan Medicine, Ann Arbor, Michigan, USA. Electronic address:

The cornerstone of management in patients with acute promyelocytic leukemia (APL) is early diagnosis and prompt initiation of treatment with an all-trans retinoic acid (ATRA)-based regimen. Identification of the t(15;17)(PML-RARA) chromosomal translocation through conventional cytogenetics fluorescence in-situ hybridization (FISH) or detection of the promyelocytic leukemia-retinoic acid receptor alpha (PML-RARα) fusion through RT-PCR represent the current standard of care for diagnosing APL. However, about 1-2% of patients with APL have a variant translocation involving other fusion partners with RARα besides PML. Read More

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Synchronous Malignant Gastrointestinal Neuroectodermal Tumor and SMARCA4-Deficient Undifferentiated Carcinoma With Independent Origins in the Small Intestine: A Case Report.

Front Oncol 2021 27;11:665056. Epub 2021 Aug 27.

Department of Pathology, Peking Union Medical College Hospital, Peking, China.

Background: Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare malignant mesenchymal neoplasm that commonly arises in the small bowel, stomach or colon. Meanwhile, SMARCA4-deficient undifferentiated carcinoma is a rarely reported entity with highly aggressive behavior that may involve the ovary, lung, gastrointestinal (GI) tract, endometrium and other organs. To our knowledge, we describe for the first time, an extremely rare case of synchronous GNET and SMARCA4-deficient undifferentiated carcinoma with independent origins in the small intestine. Read More

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Cerebroventricular Microinjections of MPTP on Adult Zebrafish Induces Dopaminergic Neuronal Death, Mitochondrial Fragmentation, and Sensorimotor Impairments.

Front Neurosci 2021 27;15:718244. Epub 2021 Aug 27.

Department of Biology, Faculty of Science, University of Ottawa, Ottawa, ON, Canada.

Mitochondria are dynamic organelles that mediate the energetic supply to cells and mitigate oxidative stress through the intricate balance of fission and fusion. Mitochondrial dysfunction is a prominent feature within Parkinson disease (PD) etiologies. To date, there have been conflicting studies of neurotoxin impact on dopaminergic cell death, mitochondrial function and behavioral impairment using adult zebrafish. Read More

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Aleukemic Extramedullary Blast Crisis as an initial presentation of Chronic Myeloid Leukemia with E1A3 BCR-ABL1 Fusion Transcript.

Intern Med 2021 Sep 11. Epub 2021 Sep 11.

Department of Hematology, Faculty of Medicine, Hokkaido University, Japan.

Right neck swelling and pain occurred in a 49-year-old man. A Blood count showed a slight increase in platelet count without leukemoid reaction. After a biopsy of the cervical mass and bone marrow aspiration, a diagnosis of extramedullary blast crisis (EBC) of chronic myeloid leukemia (CML) was made. Read More

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September 2021

Canadian ROS proto-oncogene 1 study (CROS) for multi-institutional implementation of ROS1 testing in non-small cell lung cancer.

Lung Cancer 2021 Oct 10;160:127-135. Epub 2021 Aug 10.

Laboratory Medicine Program, University Health Network, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

Patients with non-small cell lung cancer (NSCLC) harboring ROS proto-oncogene 1 (ROS1) gene rearrangements show dramatic response to the tyrosine kinase inhibitor (TKI) crizotinib. Current best practice guidelines recommend that all advanced stage non-squamous NSCLC patients be also tested for ROS1 gene rearrangements. Several studies have suggested that ROS1 immunohistochemistry (IHC) using the D4D6 antibody may be used to screen for ROS1 fusion positive lung cancers, with assays showing high sensitivity but moderate to high specificity. Read More

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October 2021

Identification of novel SSX1 fusions in synovial sarcoma.

Mod Pathol 2021 Sep 9. Epub 2021 Sep 9.

Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.

Synovial sarcoma is characterized by variable epithelial differentiation and specific SS18-SSX gene fusions. The diagnosis is primarily based on phenotype, but fusion gene detection is increasingly being considered indispensable, with SS18 break-apart fluorescence in situ hybridization (FISH) being favored in many laboratories. However, SS18 FISH assay produces negative or atypical results in a minority of cases, leaving uncertainties in diagnosis and management. Read More

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September 2021

The Clinical Utility of Optical Genome Mapping for the Assessment of Genomic Aberrations in Acute Lymphoblastic Leukemia.

Cancers (Basel) 2021 Aug 30;13(17). Epub 2021 Aug 30.

Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.

Acute lymphoblastic leukemia (ALL) is the most prevalent type of cancer occurring in children. ALL is characterized by structural and numeric genomic aberrations that strongly correlate with prognosis and clinical outcome. Usually, a combination of cyto- and molecular genetic methods (karyotyping, array-CGH, FISH, RT-PCR, RNA-Seq) is needed to identify all aberrations relevant for risk stratification. Read More

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Myeloid malignancies with translocation t(4;12)(q11-13;p13): molecular landscape, clonal hierarchy and clinical outcomes.

J Cell Mol Med 2021 Sep 7. Epub 2021 Sep 7.

Sorbonne Université, Service d'Hématologie Clinique, Hôpital Pitié-Salpêtrière, APHP, Paris, France.

Translocation t(4;12)(q11-13;p13) is a recurrent but very rare chromosomal aberration in acute myeloid leukaemia (AML) resulting in the non-constant expression of a CHIC2/ETV6 fusion transcript. We report clinico-biological features, molecular characteristics and outcomes of 21 cases of t(4;12) including 19 AML and two myelodysplastic syndromes (MDS). Median age at the time of t(4;12) was 78 years (range, 56-88). Read More

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September 2021

Cryptic insertion of CBFB into MYH11 leading to a type D fusion in acute myeloid leukemia with normal karyotype.

Int J Lab Hematol 2021 Sep 6. Epub 2021 Sep 6.

Division of Medical Oncology/Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan.

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September 2021

Evaluation of NTRK Gene Fusion by Five Different Platforms in Triple-Negative Breast Carcinoma.

Front Mol Biosci 2021 19;8:654387. Epub 2021 Aug 19.

Department of Pathology, State Key Laboratory of Complex Severe and Rare Disease, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Triple-negative breast carcinoma (TNBC) is an aggressive disease that has a poor prognosis since it lacks effective treatment methods. Neurotrophic tyrosine receptor kinase (NTRK) fusion genes are excellent candidates for targeted RTK inhibitor therapies and there are available targeted therapy drugs for the treatment of TRK fusion-positive tumors in a tumor agnostic pattern. Our study was designed to investigate the NTRK gene fusion status in TNBC patients and to determine whether RTK-targeted therapies are suitable for TNBC patients. Read More

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Biochemical, genotoxic, histological and ultrastructural effects on liver and gills of fresh water fish Channa punctatus exposed to textile industry intermediate 2 ABS.

Chemosphere 2021 Sep 1;287(Pt 2):132103. Epub 2021 Sep 1.

Department of Microbiology, Guru Nanak Dev University, Amritsar, 143005, India. Electronic address:

The study was planned to assess the acute toxicity of textile industry intermediate, 2 amino benzene sulfonate (2 ABS) through biochemical, genotoxic, histopathological and ultrastructural (SEM) analysis in liver and gills of fresh water fish Channa punctatus. The fish were subjected to two sublethal concentrations (2.83 mg/30 g b. Read More

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September 2021

Diagnosis of NUT Carcinoma Despite False-Negative Next-Generation Sequencing Results: A Case Report and Literature Review.

Onco Targets Ther 2021 27;14:4621-4633. Epub 2021 Aug 27.

Department of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, 110001, People's Republic of China.

Nuclear protein in testis (NUT) carcinoma (NC) is a poorly differentiated malignant tumor with a poor prognosis, which is caused by the gene rearrangement. Positive staining of NUT using immunohistochemistry (IHC) or gene rearrangement of revealed by genetic analysis, such as fluorescence in situ hybridization (FISH) or next-generation sequencing (NGS), are important strategies used for accurate diagnosis. In the current study, we present a case of NC in an 18-year-old man who had a chief complaint of nasal congestion, nasal bleeding, and anosmia. Read More

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Ferritin H can counteract inflammatory response in hybrid fish and its parental species after Aeromonas hydrophila infection.

Comp Biochem Physiol C Toxicol Pharmacol 2021 Aug 28;250:109174. Epub 2021 Aug 28.

State Key Laboratory of Developmental Biology of Freshwater Fish, College of Life Science, Hunan Normal University, Changsha 410081, PR China. Electronic address:

Ferritin H can participate in the regulation of fish immunity. Tissue-specific analysis revealed that the highest expressions of Ferritin H in parental species were observed in spleen, while peaked level of Ferritin H mRNA in hybrid fish was observed in liver. In addition, A. Read More

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RAF1-rearranged spindle cell tumour: report of two additional cases with identification of a novel FMR1-RAF1 fusion.

Virchows Arch 2021 Aug 30. Epub 2021 Aug 30.

Department of Pathology, Tongji Hospital, School of Medicine, Tongji University, 389 Xin Cun Street, Shanghai, 200065, China.

A subset of spindle cell tumours have been recently identified to harbor recurrent fusion genes, involving NTRK1/2/3, BRAF, RAF1, and RET. The precise classification of these fusion-positive tumours relies essentially on genomic profiling. Herein, we present our experience with two cases of spindle cell tumour which showed RAF1 rearrangement. Read More

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Genomic Copy Number Variants in CML Patients With the Philadelphia Chromosome (Ph+): An Update.

Front Genet 2021 10;12:697009. Epub 2021 Aug 10.

Department of Hematology, The First Hospital of China Medical University, Shenyang, China.

Background: Submicroscopic segmental imbalances detected by array-comparative genomic hybridization (array-CGH) were discovered to be common in chronic myeloid leukemia (CML) patients with (9;22) as the sole chromosomal anomaly. To confirm the findings of the previous study and expand the investigation, additional CML patients with (9;22) as the sole chromosomal anomaly were recruited and copy number variants (CNVs) were searched for.

Methods: Karyotyping tests were performed on 106 CML patients during January 2010-September 2019 in our Genetics Laboratory. Read More

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, and Are Novel Partner Genes in Childhood Acute Leukemia.

Biomedicines 2021 Jul 30;9(8). Epub 2021 Jul 30.

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, 117997 Moscow, Russia.

Chromosomal rearrangements of the human / gene are associated with acute leukemias, especially in infants. is rearranged with a big variety of partner genes and in multiple breakpoint locations. Detection of all types of rearrangements is an essential part of acute leukemia initial diagnostics and follow-up, as it has a strong impact on the patients' outcome. Read More

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Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall.

Virchows Arch 2021 Aug 19. Epub 2021 Aug 19.

Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, Chengdu, 610041, Sichuan, China.

Deletion of the neurofibromatosis 1 (NF1) gene is common, but NF1 rearrangement or fusion has rarely been reported in peripheral nerve sheath tumors. Here, we present a case of malignant peripheral nerve sheath tumor (MPNST) in a 36-year-old Chinese female. Histologically, the lesion was composed of spindle cells with moderate atypia, immature bone, and atypical cartilage elements. Read More

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[Expression of SS18-SSX fusion-specific antibody and SSX C-terminal antibody in synovial sarcoma and its diagnostic value].

Zhonghua Bing Li Xue Za Zhi 2021 Jul;50(7):740-744

Department of Pathology, Medicine School of Nanjing University, Nanjing Jinling Hospital, Nanjing 210002, China.

To investigate the expression and diagnostic value of SS18-SSX fusion-specific antibody and SSX C-terminal antibody in synovial sarcoma (SS). Immunohistochemical (IHC) EnVision method was used to detect the expression of SS18-SSX fusion-specific antibody and SSX C-terminal antibody in 51 genetically confirmed cases of SS and 94 non-SS tumors diagnosed at Nanjing Jinling Hospital from August 2013 to December 2020. IHC staining for SS18-SSX fusion-specific antibody revealed strongly diffuse nuclear staining in 48 of 51 (48/51, 94. Read More

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[Clinicopathological features and molecular genetic changes of lung salivary gland-type clear cell carcinoma].

Zhonghua Bing Li Xue Za Zhi 2021 Jul;50(7):728-733

Department of Pathology, Fudan University Shanghai Cancer Center; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.

To investigate the clinicopathological features, immunophenotype, differential diagnosis, molecular genetic changes and prognosis of salivary gland-type clear cell carcinoma (CCC) of the lung. Eight cases of salivary gland-type CCC of the lung diagnosed at Fudan University Shanghai Cancer Center and Shanghai Pulmonary Hospital, China from March 2017 to December 2020 were retrieved and analyzed. The pathological sections of these cases were studied using immunohistochemical staining, fluorescence in situ hybridization (FISH), and RNA-seq fusion gene detection based on next generation sequencing technique. Read More

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Mucoepidermoid carcinoma of the head and neck: CRTC1/3 MAML 2 translocation and its prognosticators.

Eur Arch Otorhinolaryngol 2021 Aug 17. Epub 2021 Aug 17.

Department of Otolaryngology- Head and Neck Surgery, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.

Purpose: Mucoepidermoid carcinoma (MEC) of the head and neck is a prevalent malignant salivary gland tumour with a reported good outcome. The aim of this study was to report the outcome in our centre.

Methods: A retrospective chart analysis with survival analyses was performed combined with fluorescence in situ hybridization (FISH) analysis to assess CRTC1/3 MAML 2 fusion gene presence. Read More

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Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls.

Genes Chromosomes Cancer 2021 Aug 16. Epub 2021 Aug 16.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Although most gastrointestinal stromal tumors (GISTs) exhibit activating mutations in either KIT or PDGFRA, rare cases have shown to be driven by gene fusions involving kinases, mainly involving NTRK3, and rarely BRAF or FGFR1. BRAF gene rearrangements have been described in only two patients to date, as separate case reports. In addition, BRAF V600E mutation is an uncommon but established oncogenic pathway in GIST. Read More

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Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.

Acta Neuropathol Commun 2021 08 13;9(1):135. Epub 2021 Aug 13.

Department of Pediatric Neurosurgery, Necker Hospital, APHP, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

The cIMPACT-NOW Update 7 has replaced the WHO nosology of "ependymoma, RELA fusion positive" by "Supratentorial-ependymoma, C11orf95-fusion positive". This modification reinforces the idea that supratentorial-ependymomas exhibiting fusion that implicates the C11orf95 (now called ZFTA) gene with or without the RELA gene, represent the same histomolecular entity. A hot off the press molecular study has identified distinct clusters of the DNA methylation class of ZFTA fusion-positive tumors. Read More

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Effects of fasting on collective movement and fission-fusion dynamics in both homogeneous and heterogeneous shoals of a group-living cyprinid fish species.

J Fish Biol 2021 Aug 12. Epub 2021 Aug 12.

Laboratory of Evolutionary Physiology and Behavior, Chongqing Key Laboratory of Animal Biology, Chongqing Normal University, Chongqing, China.

The present study aimed to reveal the effect of fasting (21 days) on collective movement and interaction dynamics in both homogeneous (eight members fed a commercial diet or deprived of food) and heterogeneous (four fed + four starved members) shoals of juvenile qingbo (Spinibarbus sinensis). The authors of this study measured the shoaling behaviour in both a commonly used rectangular open arena with no spatial complexity and a radial arm maze. When measured in the open arena, the starved shoals had a faster swimming speed and acceleration rate and a longer interindividual distance than the fed shoals, possibly because of the elevated foraging motivation. Read More

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Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.

Mod Pathol 2021 Aug 11. Epub 2021 Aug 11.

Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, the Netherlands.

The self-limited nature of nodular fasciitis (NF) is well-known but its precise mechanism has not yet been clarified. We observed that "young" NF (preoperative duration <1 month) consistently contains a higher percentage (~80%) of USP6 break-apart FISH signals than "old" NF (preoperative duration >3 months) (~20%). Thus, we hypothesized that our original observation may reflect a connection with the self-limited nature of NF. Read More

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