4,617 results match your criteria fusion partner

A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.

Exp Mol Pathol 2021 Sep 21:104686. Epub 2021 Sep 21.

Department of Pathology, Laboratory Medicine Center, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou 310014, China. Electronic address:

Ossifying fibromyxoid tumor (OFMT) is a rare mesenchymal neoplasm of uncertain line of differentiation that can be subdivided into typical, atypical, and malignant tumors. Cytogenetically, OFMT is characterized by recurrent gene rearrangement involving PHF1 in up to 85% of cases. The most common PHF1 fusion partner is EP400, present in approximately half of cases. Read More

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September 2021

Development of a novel ALK rearrangement screening test for non-small cell lung cancers.

PLoS One 2021 24;16(9):e0257152. Epub 2021 Sep 24.

Molecular Diagnosis Laboratory, Department of Pathology, National Cheng Kung University Hospital, Tainan, Taiwan.

Approximately 5-7% of non-small cell lung cancer (NSCLC) cases harbor an anaplastic lymphoma kinase (ALK) fusion gene and may benefit from ALK inhibitor therapy. To detect ALK fusion genes, we developed a novel test using reverse transcription polymerase chain reaction (RT-PCR) for the ALK kinase domain (KD). Since ALK expression is mostly silenced in the adult with the exception of neuronal tissue, the normal lung tissue, mesothelial lining, and inflammatory cells are devoid of ALK transcript, making ALK KD RT-PCR an ideal surrogate test for ALK fusion transcripts in lung or pleural effusion. Read More

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September 2021

Adult Acute Myeloid Leukemia with the KMT2A-Mixed Lineage Leukemia T10 Fusion: An Analysis of 10 Cases Showed Common Features and Frequent Mutations in the RAS Signaling Pathway.

Acta Haematol 2021 Sep 22:1-7. Epub 2021 Sep 22.

Department of Hematology, The Affiliated Hospital of Nanjing Medical University, Changzhou No.2 People's Hospital, Changzhou, China.

Mixed lineage leukemia (MLL) T10 is a relatively rare partner for the KMT2A lysine (K)-specific methyltransferase 2A gene. The common features and coexisting mutations of acute myeloid leukemia (AML) patients with KMT2A-MLLT10 remain unknown. In this study, 10 adult AML patients with KMT2A-MLLT10 fusions were picked up from 496 AML patients by using RT-polymerase chain reaction (PCR) and/or fluorescence in situ hybridization, and then screened for mutations in the 49 genes panel with next-generation sequencing and PCR, followed by direct Sanger sequencing. Read More

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September 2021

Risk classification at diagnosis predicts post-HCT outcomes in intermediate-, adverse-risk, and KMT2A-rearranged AML.

Blood Adv 2021 Sep 22. Epub 2021 Sep 22.

University of Texas Southwestern Medical Center, Dallas, Texas, United States.

Little is known about whether risk classification at diagnosis predicts post-hematopoietic cell transplantation (HCT) outcomes for acute myeloid leukemia (AML) patients. We evaluated 8709 AML patients from the CIBMTR database and, after selection and manual curation of cytogenetics data, 3779 patients in CR1 were included in the final analysis: 2384 with intermediate-risk, 969 with adverse-risk, and 426 with KMT2A-rearranged disease. An adjusted multivariable analysis compared to intermediate-risk patients detected an increased risk of relapse for KMT2A-rearranged and adverse-risk patients (HR 1. Read More

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September 2021

METTL3-mA-Rubicon axis inhibits autophagy in nonalcoholic fatty liver disease.

Mol Ther 2021 Sep 18. Epub 2021 Sep 18.

Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China. Electronic address:

N-methyladenosine (mA) mRNA modification plays critical roles in various biological events and involves in multiple complex diseases. However, the role of mA modification in autophagy in nonalcoholic fatty liver disease (NAFLD) remains largely unknown. Here, we report that mA modification was increased in livers of NAFLD mouse models and in free fatty acids (FFAs)-treated hepatocytes, and the abnormal mA modification was attributed to the upregulation of methyltransferase like 3 (METTL3) induced by lipotoxicity. Read More

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September 2021

Novel class of ZNF384 aberrations in acute leukemia.

Blood Adv 2021 Sep 16. Epub 2021 Sep 16.

CLIP, University Hospital Motol, Czech Republic.

Fusion of the ZNF384 gene as the 3' partner to several different 5' partner genes occurs recurrently in B-cell precursor acute lymphoblastic and mixed phenotype B/myeloid leukemia. These canonical fusions (ZNF384r) contain the complete ZNF384 coding sequence and are associated with a specific gene expression signature. Cases with this signature, but without canonical ZNF384 fusions (ZNF384r-like cases), have been described previously. Read More

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September 2021

RNA Sequencing for Personalized Treatment of Metastatic Leiomyosarcoma: Case Report.

Front Oncol 2021 30;11:666001. Epub 2021 Aug 30.

The Laboratory of Clinical and Genomic Bioinformatics, I.M. Sechenov First Moscow State Medical University, Moscow, Russia.

Uterine leiomyosarcoma (UL) is a rare malignant tumor that develops from the uterine smooth muscle tissue. Due to the low frequency and lack of sufficient data from clinical trials there is currently no effective treatment that is routinely accepted for UL. Here we report a case of a 65-years-old female patient with metastatic UL, who progressed on ifosfamide and doxorubicin therapy and developed severe hypertensive crisis after administration of second line pazopanib, which lead to treatment termination. Read More

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Functional Immobilization of a Biofilm-Releasing Glycoside Hydrolase Dispersin B on Magnetic Nanoparticles.

Appl Biochem Biotechnol 2021 Sep 15. Epub 2021 Sep 15.

School of Chemistry, Chemical Engineering, and Life Science, Wuhan University of Technology, Wuhan, 430070, China.

Dispersin B (DspB) is a member of glycoside hydrolase family 20 (GH20) and catalyzes degradation of biofilms forming by pathogenic bacteria such as Staphylococcus aureus. Magnetoreceptor (MagR) is a magnetic protein that can be used as a fusion partner for functionally immobilizing proteins on magnetic surfaces. In the present study, a recombinant protein DspB-MagR was constructed by fusing MagR to the C-terminus of DspB and expressed in Escherichia coli. Read More

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September 2021

Comprehensive identification of alterations in 5 557 Chinese patients with solid tumors by next-generation sequencing.

Am J Cancer Res 2021 15;11(8):3893-3906. Epub 2021 Aug 15.

Guangdong Lung Cancer Institute, Guangdong Provincial People's Hospital and Guangdong Academy of Medical Sciences Guangzhou 510080, Guandong, China.

Deregulation of fibroblast growth factor receptor (FGFR) network is common in cancer due to activating mutations, gene amplifications and chromosomal translocations. Currently, various FGFR inhibitors are being developed. In order to optimize their clinical applications, understanding the frequencies and types of alterations in multiple cancer types appears to be extremely important. Read More

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Cellular Fibroma of Tendon Sheath With Novel Gene Fusion Clinically Mimicking Arthritis in a 7-Year-Old Boy.

Pediatr Dev Pathol 2021 Sep 14:10935266211043869. Epub 2021 Sep 14.

Department of Pathology, University of Iowa, Iowa City, Iowa.

Cellular fibroma of tendon sheath (CFTS) is a rare, benign myofibroblastic neoplasm of tenosynovial soft tissues closely resembling nodular fasciitis (NF), but is histomorphologically distinct from classic fibroma of tendon sheath (FTS). We report a case of a pediatric patient with thumb swelling clinically concerning for arthritis with a biopsy demonstrating myofibroblastic proliferation with features consistent with NF/CFTS, and molecular studies confirming the presence of a USP6 gene fusion (TNC-USP6). This case highlights a unique clinical presentation of CFTS in a pediatric patient mimicking an inflammatory or reactive/non-neoplastic musculoskeletal disorder and the increasingly crucial role of molecular testing to differentiate a reactive myofibroblastic process from a neoplasm. Read More

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September 2021

What Would Next Generation Sequencing Bring to the Diagnosis and Treatment of Sarcomas? A Series of 20 Cases, a Single Institution's Experience.

Turk Patoloji Derg 2021 ;37(3):226-232

Department of Pathology, Koç University, School of Medicine, ISTANBUL, TURKEY.

Objective: Soft tissue tumors comprise a small proportion of a pathologist's routine practice. Although morphology and immunohistochemistry are quite helpful for diagnosing these tumors, many require molecular tests. Fluorescence in-situ hybridization has been the most commonly used method for the detection of specific genomic alteration, but next generation sequencing (NGS) could be more informative in many ways. Read More

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January 2021

Malignant gastrointestinal neuroectodermal tumor: Cytologic, histologic, immunohistochemical, and molecular pitfalls.

Ann Diagn Pathol 2021 Sep 6;55:151813. Epub 2021 Sep 6.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address:

Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare malignant primary gastrointestinal mesenchymal tumor which can be diagnosed via fine-needle aspiration (FNA) cytology. In the context of FNA, the diagnosis requires a cell block and the use of significant resources including immunohistochemical stains and molecular testing. The differential diagnosis of GNET includes clear cell sarcoma (CCS), gastrointestinal stromal tumor (GIST), gastric schwannoma, metastatic melanoma, malignant perivascular epithelioid cell tumor (PEComa) and granular cell tumor, among others. Read More

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September 2021

ABL1 and Cofilin1 promote T-cell acute lymphoblastic leukemia cell migration.

Acta Biochim Biophys Sin (Shanghai) 2021 Sep 11. Epub 2021 Sep 11.

School of Life Sciences, Shanxi University, Taiyuan 030006, China.

The fusion gene of ABL1 is closely related to tumor proliferation, invasion, and migration. It has been reported recently that ABL1 itself is required for T-cell acute lymphoblastic leukemia (T-ALL) cell migration induced by CXCL12. Further experiments revealed that ABL1 inhibitor Nilotinib inhibited leukemia cell migration induced by CXCL12, indicating the possible application of Nilotinib in T-ALL leukemia treatment. Read More

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September 2021

Hemodynamic phenotyping of transgenic rats with ubiquitous expression of an angiotensin-(1-7)-producing fusion protein.

Clin Sci (Lond) 2021 Sep;135(18):2197-2216

Department of Physiology and Biophysics and INCT-Nanobiopharmaceutics, ICB, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Activation of the angiotensin (Ang)-converting enzyme (ACE) 2/Ang-(1-7)/MAS receptor pathway of the renin-angiotensin system (RAS) induces protective mechanisms in different diseases. Herein, we describe the cardiovascular phenotype of a new transgenic rat line (TG7371) that expresses an Ang-(1-7)-producing fusion protein. The transgene-specific mRNA and the corresponding protein were shown to be present in all evaluated tissues of TG7371 with the highest expression in aorta and brain. Read More

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September 2021

Recombinant adenovirus expressing the fusion protein PD1PVR improves CD8 T cell-mediated antitumor efficacy with long-term tumor-specific immune surveillance in hepatocellular carcinoma.

Cell Oncol (Dordr) 2021 Sep 7. Epub 2021 Sep 7.

Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, 22 Hankou Road, Nanjing, 210093, China.

Purpose: Treatment-associated upregulation of suppressive checkpoints and a lack of costimulatory signals compromise the antitumor efficacy of oncolytic virus immunotherapy. Therefore, we aimed to identify highly effective therapeutic targets to provide a proof-of-principle for immune checkpoint together with oncolytic virus-mediated viro-immunotherapy for cancer.

Methods: A fusion protein containing both the extracellular domain of programmed death-1 (PD-1) and the poliovirus receptor (PVR) was designed. Read More

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September 2021

Hybrid fusion protein as a dual protease inhibitor for the healing of chronic wounds.

Biotechnol Prog 2021 Sep 5:e3209. Epub 2021 Sep 5.

Department of Chemical, Biological & Materials Engineering, University of South Florida, Tampa, Florida, USA.

Diseases bring about the need for interventions that pinpoint each specific aspect of the illness. Commonly, remission of a complex disease is accomplished by mixing treatments, medications, and therapeutics together in a fashion where they may negatively interact with each other or never arrive at the diseased site as a systemic heterogeneous mixture. Chronic wounds display intricacy as they are very localized and have their own environment where tissue deconstruction due to high levels of numerous proteases outweighs normal tissue reconstruction. Read More

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September 2021

Epigenetic dynamics of centromeres and neocentromeres in Cryptococcus deuterogattii.

PLoS Genet 2021 Aug 31;17(8):e1009743. Epub 2021 Aug 31.

Duke University Medical Center, Durham, North Carolina, United States of America.

Deletion of native centromeres in the human fungal pathogen Cryptococcus deuterogattii leads to neocentromere formation. Native centromeres span truncated transposable elements, while neocentromeres do not and instead span actively expressed genes. To explore the epigenetic organization of neocentromeres, we analyzed the distribution of the heterochromatic histone modification H3K9me2, 5mC DNA methylation and the euchromatin mark H3K4me2. Read More

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Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing.

Genes Chromosomes Cancer 2021 Aug 30. Epub 2021 Aug 30.

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

Acute lymphoblastic leukemia (ALL) is the most frequent malignancy in childhood and adolescence. In more than 60% of cases of this heterogeneous disease, a genetic marker is identified via cytogenetic or molecular analyses. TCF3 gene fusions occur in 5%-11% of ALL patients. Read More

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Mitofusin 2 Deficiency Causes Pro-Inflammatory Effects in Human Primary Macrophages.

Front Immunol 2021 12;12:723683. Epub 2021 Aug 12.

Institute of Biochemistry I, Faculty of Medicine, Goethe-University Frankfurt, Frankfurt, Germany.

Mitofusin 2 (MFN2) is a mitochondrial outer membrane GTPase, which modulates mitochondrial fusion and affects the interaction between endoplasmic reticulum and mitochondria. Here, we explored how MFN2 influences mitochondrial functions and inflammatory responses towards zymosan in primary human macrophages. A knockdown of MFN2 by small interfering RNA decreased mitochondrial respiration without attenuating mitochondrial membrane potential and reduced interactions between endoplasmic reticulum and mitochondria. 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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Neutrophils contribute to severity of tuberculosis pathology and recovery from lung damage pre- and post-treatment.

Clin Infect Dis 2021 Aug 24. Epub 2021 Aug 24.

Vaccines and Immunity Theme, MRC Unit The Gambia at LSHTM, Atlantic Road, Fajara, The Gambia.

Background: Despite microbiological cure, about 50% of TB patients have poor lung recovery. Neutrophils are associated with lung pathology, however, CD16|CD62L-defined subsets have not been studied in TB. Using flow cytometry, we monitored frequencies, phenotype and function of neutrophils following stimulation with Mtb whole cell lysate (WCL) and ESAT-6/CFP-10 fusion protein (EC)) in relation to lung pathology. 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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Differential mitochondrial roles for α-synuclein in DRP1-dependent fission and PINK1/Parkin-mediated oxidation.

Cell Death Dis 2021 Aug 17;12(9):796. Epub 2021 Aug 17.

Department of Biological Sciences, The State University of New York at Buffalo, Buffalo, NY, 14260, USA.

Mitochondria are highly dynamic organelles with strict quality control processes that maintain cellular homeostasis. Within axons, coordinated cycles of fission-fusion mediated by dynamin related GTPase protein (DRP1) and mitofusins (MFN), together with regulated motility of healthy mitochondria anterogradely and damaged/oxidized mitochondria retrogradely, control mitochondrial shape, distribution and size. Disruption of this tight regulation has been linked to aberrant oxidative stress and mitochondrial dysfunction causing mitochondrial disease and neurodegeneration. Read More

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Leukemia With Rearrangement as a Distinct Subtype of Disease With Distinct Treatments: Perspectives From A Case Report and Literature Review.

Front Oncol 2021 28;11:709036. Epub 2021 Jul 28.

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

Background: rearrangements are found in 5-10% of B-cell acute lymphoblastic leukemia (B-ALL) and 48% of B cell/myeloid mixed phenotype acute leukemia (B/M MPAL). -rearranged B-ALL is prone to lineage conversion after chemotherapy. is the second most common rearrangement partner of in B-ALL (27. Read More

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KMT2A-ARHGEF12, a therapy related fusion with poor prognosis.

Mol Biol Rep 2021 Aug 12. Epub 2021 Aug 12.

Department of Laboratory Medicine, Hemato-Oncologic Cytogenetics, Centre Hospitalier de Versailles, 2, rue JL Forain, 78150, Le Chesnay, France.

Background: The detection of KMT2A gene rearrangements have an important impact on the prognosis and management of acute leukemias. These alterations most commonly involve reciprocal translocations at specific breakpoint regions within KMT2A. To date, more than 100 translocation partner genes of KMT2A have been identified, with different effects on risk stratification. Read More

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Lipid droplets form a network interconnected by the endoplasmic reticulum through which their proteins equilibrate.

J Cell Sci 2022 Mar 10;135(5). Epub 2021 Aug 10.

Department of Biology, University of Fribourg, Chemin du Musée 10, 1700 Fribourg, Switzerland.

Lipid droplets (LDs) are globular intracellular structures dedicated to the storage of neutral lipids. They are closely associated with the endoplasmic reticulum (ER) and are delineated by a monolayer of phospholipids that is continuous with the cytoplasmic leaflet of the ER membrane. LDs contain a specific set of proteins, but how these proteins are targeted to the LD surface is not fully understood. Read More

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Characterization of an ETV6-NTRK3 rearrangement with unusual, but highly significant FISH signal pattern in a secretory carcinoma of the salivary gland: a case report.

Diagn Pathol 2021 Aug 9;16(1):73. Epub 2021 Aug 9.

Institut und Gemeinschaftspraxis für Pathologie, St. Vincentius-Kliniken Karlsruhe, ViDia Christliche Kliniken, Karlsruhe, Germany.

Background: Fusions of neurotrophic tropomyosin receptor kinase genes NTRK1, NTRK2 and NTRK3 with various partner genes occur in both common and rare tumours and are of paramount predictive value due to the availability of very effective pan-Trk inhibitors like Larotrectinib and Entrectinib. Detection of NTRK fusions is mainly performed by fluorescence in situ hybridization (FISH) and next generation sequencing (NGS). The case described here showed a very unusual, but highly significant FISH signal pattern with an NTRK3 break apart probe, indicative of a functional NTRK3 rearrangement. Read More

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Aneurysmal bone cyst with an unusual clinical presentation and a novel VDR-USP6 fusion.

Genes Chromosomes Cancer 2021 Aug 8. Epub 2021 Aug 8.

Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts, USA.

Aneurysmal bone cyst is a benign bone neoplasm that most commonly arises from the metaphyses of long bones in the first and second decades of life. Here, we describe a case of an aneurysmal bone cyst that occurred in the distal tibial diaphysis of a 72-year-old female that was concerning for malignancy on imaging, demonstrating cortical breakthrough and soft tissue extension. Histologically, the tumor showed the characteristic morphologic features of aneurysmal bone cyst. Read More

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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.

Genes Chromosomes Cancer 2021 Nov 6;60(11):772-784. Epub 2021 Aug 6.

CARARE French Network (CAncers RAres du Rein: Rare Renal Cancers Network of the National Institute of Cancer, INCa), France.

The accurate diagnosis of Xp11-translocation renal cell carcinoma (RCC) in adults is challenging. TFE3 (located on chromosome X) fuses with a partner gene generally located on another chromosome. In rare cases TFE3 may fuse with a neighboring gene: RBM10. Read More

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November 2021

Stepwise Conformational Stabilization of a HIV-1 Clade C Consensus Envelope Trimer Immunogen Impacts the Profile of Vaccine-Induced Antibody Responses.

Vaccines (Basel) 2021 Jul 6;9(7). Epub 2021 Jul 6.

Institute of Medical Microbiology and Hygiene, Molecular Microbiology (Virology), University of Regensburg, 93053 Regensburg, Germany.

Stabilization of the HIV-1 Envelope glycoprotein trimer (Env) in its native pre-fusion closed conformation is regarded as one of several requirements for the induction of neutralizing antibody (nAb) responses, which, in turn, will most likely be a prerequisite for the development of an efficacious preventive vaccine. Here, we systematically analyzed how the stepwise stabilization of a clade C consensus (ConC) Env immunogen impacts biochemical and biophysical protein traits such as antigenicity, thermal stability, structural integrity, and particle size distribution. The increasing degree of conformational rigidification positively correlates with favorable protein characteristics, leading to optimized homogeneity of the protein preparations, increased thermal stability, and an overall favorable binding profile of structure-dependent broadly neutralizing antibodies (bnAbs) and non-neutralizing antibodies (non-nAbs). Read More

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