placeholder
and
and

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Proceed order?

Export
Filter
Document type
Language
Year
  • 1
    Language: English
    In: Clinical cancer research, 2008-01-01, Vol.14 (1), p.123-129
    Description: Purpose: The CD133 antigen has been identified as a putative stem cell marker in normal and malignant brain tissues. In gliomas, it is used to enrich a subpopulation of highly tumorigenic cancer cells. According to the cancer stem cell hypothesis, CD133-positive cells determine long-term tumor growth and, therefore, are suspected to influence clinical outcome. To date, a correlation between CD133 expression in primary tumor tissues and patients' prognosis has not been reported. Experimental Design: To address this question, we analyzed the expression of the CD133 stem cell antigen in a series of 95 gliomas of various grade and histology by immunohistochemistry on cryostat sections. Staining data were correlated with patient outcome. Results: By multivariate survival analysis, we found that both the proportion of CD133-positive cells and their topological organization in clusters were significant ( P 〈 0.001) prognostic factors for adverse progression-free survival and overall survival independent of tumor grade, extent of resection, or patient age. Furthermore, proportion of CD133-positive cells was an independent risk factor for tumor regrowth and time to malignant progression in WHO grade 2 and 3 tumors. Conclusions: These findings constitute the first conclusive evidence that CD133 stem cell antigen expression correlates with patient survival in gliomas, lending support to the current cancer stem cell hypothesis.
    Subject(s): stem cells ; glioma ; prognosis ; CD133 ; Neurology ; Biological and medical sciences ; Medical sciences ; Tumors of the nervous system. Phacomatoses ; Antineoplastic agents ; Pharmacology. Drug treatments ; Immunohistochemistry ; Glioma - mortality ; Prognosis ; Peptides ; Antigens, CD - biosynthesis ; Humans ; Middle Aged ; Brain Neoplasms - pathology ; Kaplan-Meier Estimate ; Male ; Stem Cells - metabolism ; AC133 Antigen ; Brain Neoplasms - metabolism ; Glioma - metabolism ; Glycoproteins - biosynthesis ; Disease-Free Survival ; Glioma - pathology ; Survival Analysis ; Adult ; Female ; Brain Neoplasms - mortality ; Index Medicus
    ISSN: 1078-0432
    E-ISSN: 1557-3265
    Source: HighWire Press (Free Journals)
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 2
    Language: English
    In: BMC women's health, 2012-01-10, Vol.12 (1), p.2-2
    Description: Spontaneous cessation of growth is a frequent finding in uterine fibroids. Increasing evidence suggests an important role of cellular senescence in this growth control. Deciphering the underlying mechanisms of growth control that can be expected not only to shed light on the biology of the tumors but also to identify novel therapeutic targets. We have analyzed uterine leiomyomas and matching normal tissue for the expression of p14Arf and used explants to see if reducing the MDM2 activity using the small-molecule inhibitor nutlin-3 can induce p53 and activate genes involved in senescence and/or apoptosis. For these studies quantitative real-time RT-PCR, Western blots, and immunohistochemistry were used. Statistical analyses were performed using the student's t test. An in depth analysis of 52 fibroids along with matching myometrium from 31 patients revealed in almost all cases a higher expression of p14Arf in the tumors than in the matching normal tissue. In tissue explants, treatment with the MDM2 inhibitor nutlin-3 induced apoptosis as well as senescence as revealed by a dose-dependent increase of the expression of BAX as well as of p21, respectively. Simultaneously, the expression of the proliferation marker Ki-67 drastically decreased. Western-blot analysis identified an increase of the p53 level as the most likely reason for the increased activity of its downstream markers BAX and p21. Because as a rule fibroids express much higher levels of p14Arf, a major negative regulator of MDM2, than matching myometrium it was then analyzed if fibroids are more sensitive against nutlin-3 treatment than matching myometrium. We were able to show that in most fibroids analyzed a higher sensibility than that of matching myometrium was noted with a corresponding increase of the p53 immunopositivity of the fibroid samples compared to those from myometrium. The results show that uterine fibroids represent a cell population of advanced cellular age compared to matching myometrium. Moreover, the data point to members of the p53-network as to potential novel therapeutic targets for the treatment of uterine fibroids.
    Subject(s): Proto-Oncogene Proteins c-mdm2 - genetics ; Uterine Neoplasms - metabolism ; Apoptosis - drug effects ; Humans ; Middle Aged ; Tumor Suppressor Protein p53 - metabolism ; Cellular Senescence - drug effects ; Apoptosis - genetics ; Imidazoles - pharmacology ; Leiomyoma - metabolism ; Piperazines - pharmacology ; Tumor Suppressor Protein p53 - drug effects ; Myometrium - metabolism ; Adult ; Female ; Aged ; Tumor Suppressor Protein p14ARF - metabolism ; Proto-Oncogene Proteins c-mdm2 - antagonists & inhibitors ; Leiomyoma - genetics ; Tumor Suppressor Protein p14ARF - drug effects ; Uterine fibroids ; Genes ; Physiological aspects ; Genetic aspects ; Research ; Tumor proteins ; Apoptosis ; Fibroids ; Surgery ; Cloning ; Tumors ; Index Medicus ; senescence ; apoptosis ; p14Arf ; MDM2 antagonists ; fibroids
    ISSN: 1472-6874
    E-ISSN: 1472-6874
    Source: BioMedCentral Open Access
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: Directory of Open Access Journals
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 3
    Language: English
    In: Histochemistry and cell biology, 2016-02, Vol.145 (2), p.227-237
    Description: Deleted in malignant brain tumor 1 (DMBT1) is involved in innate immunity and epithelial differentiation. Previous studies in adults indicated a strong intestinal expression of DMBT1 and an important role in inflammatory bowel diseases. Here, we analyzed the DMBT1 expression in the fetal gastrointestinal system depending on gestational age and in patients with necrotizing enterocolitis (NEC), volvulus, intestinal perforation (IP), or herniation, representing typical diseases of preterm and term infants. We used immunohistochemistry and RNA in situ hybridization to detect DMBT1 protein and mRNA in fetal tissues, supplemented by postmortem analysis of DMBT1 expression in died newborns and analysis of surgically removed tissues. DMBT1 expression is detectable in the early developmental stages of the gastrointestinal system. In NEC, volvulus, IP, or herniation, characterized by high systemic inflammatory responses, DMBT1 expression is strongly increased. High DMBT1 expression was also found in the bile ducts of older infants with sepsis or cholestasis. The study shows that DMBT1 expression is observed in the developing gastrointestinal system and up-regulated in infants with NEC, volvulus, IP, and herniation. DMBT1 may play a role in epithelial differentiation and local innate immunity during neonatal inflammatory bowel processes.
    Subject(s): Biochemistry, general ; Fetal gastrointestinal system ; Biomedicine ; Prematurity ; Deleted in malignant tumor 1 ; Innate immunity ; Necrotizing enterocolitis ; Inflammation ; Developmental Biology ; Biomedicine general ; Cell Biology ; Immunohistochemistry ; Gastrointestinal Diseases - metabolism ; Humans ; Receptors, Cell Surface - analysis ; Gastrointestinal Diseases - pathology ; Receptors, Cell Surface - metabolism ; In Situ Hybridization, Fluorescence ; Infant ; Receptors, Cell Surface - biosynthesis ; Infant, Newborn ; Infants (Newborn) ; RNA ; Analysis ; Gastrointestinal diseases ; Gastrointestinal system ; Index Medicus
    ISSN: 0948-6143
    E-ISSN: 1432-119X
    Source: Academic Search Ultimate
    Source: Alma/SFX Local Collection
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 4
    Language: English
    In: Cancer science, 2009-07, Vol.100 (7), p.1210-1218
    Description: Head and neck squamous cell carcinoma has still a poor prognosis. Since angiogenesis is crucial for tumor growth, a better understanding of the potential clinical relevance as well as the interactions between the numerous proangiogenic growth factors is essential to develop improved therapeutic strategies in these tumors. Expression levels of eight growth factors known to induce angiogenesis (HGF, bFGF, VEGF-A, VEGF-D, PDGF-AB, PDGF-BB, G-CSF, and GM-CSF) were quantitatively measured by ELISA in homogenates of 41 head and neck squamous cell carcinomas. In addition, microvessel density and protein localization of growth factors were assessed by immunohistochemistry. Statistical analysis was performed to assess interrelationships between growth factors analyzed and to correlate protein levels with patient outcome. In 90% of the tissues at least 4/8 growth factors analyzed were detectable. Highest amounts and most frequent expression were found for HGF, bFGF and VEGF-A while PDGF-AB and PDGF-BB were present in two-thirds and G-CSF and GM-CSF in approximately half of the cases. Although there was no significant relation to microvessel density, we identified significant associations for bFGF with HGF and G-CSF as well as of PDGF-AB with those of VEGF-A and PDGF-BB. For the first time we demonstrate that expression levels of HGF as well as that of bFGF and G-CSF in head and neck squamous tumors are negative prognostic factors for patient survival. Our data indicate a network of interrelated and prognostically relevant growth factors in these tumors that have to be taken into consideration when planning an antiangiogenic and antitumor therapy. (Cancer Sci 2009; 100: 1210-1218)
    Subject(s): Biological and medical sciences ; Medical sciences ; Otorhinolaryngology. Stomatology ; Otorhinolaryngology (head neck, general aspects and miscellaneous) ; Tumors ; Immunohistochemistry ; Prognosis ; Granulocyte-Macrophage Colony-Stimulating Factor - metabolism ; Proto-Oncogene Proteins c-sis ; Carcinoma, Squamous Cell - metabolism ; Humans ; Vascular Endothelial Growth Factor A - metabolism ; Head and Neck Neoplasms - metabolism ; Head and Neck Neoplasms - blood supply ; Intercellular Signaling Peptides and Proteins - metabolism ; Platelet-Derived Growth Factor - metabolism ; Vascular Endothelial Growth Factor D - metabolism ; Carcinoma, Squamous Cell - mortality ; Angiogenesis Inducing Agents - metabolism ; Carcinoma, Squamous Cell - blood supply ; Neovascularization, Pathologic - metabolism ; Head and Neck Neoplasms - mortality ; Squamous cell carcinoma ; Colony-stimulating factors (Physiology) ; Analysis ; Health aspects ; Growth factors ; Enzyme-linked immunosorbent assay ; Index Medicus
    ISSN: 1347-9032
    E-ISSN: 1349-7006
    Source: Alma/SFX Local Collection
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 5
    Language: English
    In: Clinical cancer research, 2005-04-15, Vol.11 (8), p.2899-2906
    Description: Purpose: Head and neck squamous cell carcinomas (HNSCC) are characterized by a poor prognosis due to aggressive, recurrent tumor growth. Expression of the extracellular matrix–degrading enzyme heparanase was associated with poorer prognosis in several cancers. We analyzed the presence of heparanase in HNSCC tissues and tumor cells and its potential prognostic significance. Experimental Design: We analyzed the expression of the active form of heparanase in HNSCC tissues in corresponding tumor cell cultures and after xenotransplantation of tumor cell cultures into NOD/Scid mice by immunohistochemistry, Western blot analysis, and reverse transcription-PCR in altogether 25 patients and did a comparison with clinicopathologic data of the patients. Results: Heparanase expression in situ was detected in all tumor biopsies in the tumor stroma and in tumor cells from 13 of 19 primary tumors and 9 of 12 lymph node metastases. Heparanase was localized in disseminated tumor cells, in tumor cell clusters invading adjacent stromal tissues, and in tumor cells at the tumor invasion front. Lymph node metastases expressed higher levels of heparanase compared with corresponding primary tumors. In contrast to a heterogeneous expression pattern in tumor tissues, all corresponding HNSCC tumor cell cultures showed a rather homogeneous heparanase expression on the mRNA and protein levels. Comparison of heparanase expression in situ and in corresponding tumor cell cultures in vitro or after xenotransplantation into NOD/Scid mice revealed that heparanase expression was regulated in vivo . Lack of heparanase in tumor cells from primary tumors or lymph node metastases was correlated with prolonged disease-free survival and overall survival. Conclusion: Heparanase expression seems to be involved in the invasiveness and aggressiveness of HNSCC.
    Subject(s): primary tumor culture ; NOD/Scid mice ; tumor invasion ; Biological and medical sciences ; Medical sciences ; Antineoplastic agents ; Pharmacology. Drug treatments ; Immunohistochemistry ; Neoplasm Transplantation ; Prognosis ; Humans ; Middle Aged ; Gene Expression Regulation, Neoplastic ; Glucuronidase - metabolism ; Transplantation, Heterologous ; RNA, Messenger - metabolism ; Aged, 80 and over ; Adult ; Female ; Head and Neck Neoplasms - enzymology ; Neoplasm Invasiveness ; RNA, Messenger - genetics ; Lymphatic Metastasis ; Mice, SCID ; Reverse Transcriptase Polymerase Chain Reaction ; Blotting, Western ; Head and Neck Neoplasms - pathology ; Gene Expression Regulation, Enzymologic ; Animals ; Glucuronidase - genetics ; Survival Analysis ; Cell Line, Tumor ; Head and Neck Neoplasms - genetics ; Mice, Inbred NOD ; Aged ; Mice ; Index Medicus
    ISSN: 1078-0432
    E-ISSN: 1557-3265
    Source: HighWire Press (Free Journals)
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 6
    Language: English
    In: The Journal of thoracic and cardiovascular surgery, 2009, Vol.138 (3), p.725-732
    Description: Objective Bacterial endocarditis is a frequent infectious cardiac disease, especially in patients with congenital or acquired heart defects. It is characterized by bacterial colonization of the heart valves and the appearance of vegetations consisting of fibrin, blood cells, and bacteria. The glycoprotein Deleted in Malignant Brain Tumors 1 is a scavenger receptor cysteine-rich protein with functions in innate immunity and epithelial differentiation. Because of the aggregating capacity of Deleted in Malignant Brain Tumors 1, we hypothesized that an up-regulation in bacterial endocarditis may be linked to the development of vegetations. Methods Heart tissue of 19 patients with bacterial endocarditis and 10 controls without bacterial endocarditis was analyzed by immunohistochemistry. The effect of human recombinant Deleted in Malignant Brain Tumors 1 on erythrocyte aggregation was measured using an automated red blood cell aggregometer MA1. Binding of human recombinant Deleted in Malignant Brain Tumors 1 to erythrocyte membranes, platelets, fibrin, and fibrinogen was analyzed by Western blotting and enzyme-linked immunosorbent assay. Results Deleted in Malignant Brain Tumors 1 expression was up-regulated in affected heart valves with bacterial endocarditis and limited to the colonizing bacteria on the heart valves and granulocyte-depleted fibrin/fibrinogen formations, and around localized atheromatosis. Patients with aggressive bacteria showed higher DMBT1 levels than patients with less aggressive bacteria. Human recombinant Deleted in Malignant Brain Tumors 1 aggregates erythrocytes and binds to erythrocyte membranes, platelets, and fibrin/fibrinogen. Conclusion Deleted in Malignant Brain Tumors 1 up-regulation at sites of bacterial endocarditis, its association with platelets and fibrin/fibrinogen, and its ability to aggregate erythrocytes through binding to their membranes indicate a potential role in the development of vegetations and thrombosis.
    Subject(s): Cardiothoracic Surgery ; Cardiology. Vascular system ; Heart ; Neurology ; Endocardial and cardiac valvular diseases ; Tumors of the nervous system. Phacomatoses ; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy ; Biological and medical sciences ; Medical sciences ; Pneumology ; Immunohistochemistry ; Up-Regulation ; Humans ; Middle Aged ; Male ; Mitral Valve - microbiology ; Mitral Valve - metabolism ; Aortic Valve - microbiology ; Aged, 80 and over ; Adult ; Female ; Recombinant Proteins - metabolism ; Tricuspid Valve - microbiology ; Bacteria - metabolism ; Tricuspid Valve - metabolism ; Endocarditis, Bacterial - metabolism ; Erythrocyte Membrane - metabolism ; Receptors, Cell Surface - metabolism ; Aortic Valve - metabolism ; Blood Platelets - metabolism ; Fibrinogen - metabolism ; Aged ; Fibrin - metabolism ; In Vitro Techniques ; Erythrocyte Aggregation ; Fibrin ; Immunoglobulins ; Genetic disorders ; Analysis ; Cardiac patients ; Citrates ; Brain tumors ; Peroxidase ; Glucose ; Universities and colleges ; Endocarditis, Bacterial ; Dextrose ; Index Medicus ; Abridged Index Medicus
    ISSN: 0022-5223
    E-ISSN: 1097-685X
    Source: Alma/SFX Local Collection
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 7
    Language: English
    In: Respiratory research, 2007-10-01, Vol.8 (1), p.69-69
    Description: Deleted in Malignant Brain Tumors 1 (DMBT1) is a secreted scavenger receptor cysteine-rich protein that binds various bacteria and is thought to participate in innate pulmonary host defense. We hypothesized that pulmonary DMBT1 could contribute to respiratory distress syndrome in neonates by modulating surfactant function. DMBT1 expression was studied by immunohistochemistry and mRNA in situ hybridization in post-mortem lungs of preterm and full-term neonates with pulmonary hyaline membranes. The effect of human recombinant DMBT1 on the function of bovine and porcine surfactant was measured by a capillary surfactometer. DMBT1-levels in tracheal aspirates of ventilated preterm and term infants were determined by ELISA. Pulmonary DMBT1 was localized in hyaline membranes during respiratory distress syndrome. In vitro addition of human recombinant DMBT1 to the surfactants increased surface tension in a dose-dependent manner. The DMBT1-mediated effect was reverted by the addition of calcium depending on the surfactant preparation. Our data showed pulmonary DMBT1 expression in hyaline membranes during respiratory distress syndrome and demonstrated that DMBT1 increases lung surface tension in vitro. This raises the possibility that DMBT1 could antagonize surfactant supplementation in respiratory distress syndrome and could represent a candidate target molecule for therapeutic intervention in neonatal lung disease.
    Subject(s): Surface Tension ; Humans ; Lung - chemistry ; Solubility ; Receptors, Cell Surface - metabolism ; Male ; Basement Membrane - metabolism ; Hyalin - metabolism ; Phase Transition ; Basement Membrane - chemistry ; Tissue Distribution ; Pulmonary Surfactants - chemistry ; Female ; Hyaline Membrane Disease - metabolism ; Lung - metabolism ; Infant, Newborn ; Diagnosis ; Research ; Respiratory distress syndrome ; Tumor proteins ; Health aspects ; Risk factors ; Cysteine ; Surface active agents ; Infants (Premature) ; Brain tumors ; Enzyme-linked immunosorbent assay ; Protein binding ; Index Medicus
    ISSN: 1465-993X
    ISSN: 1465-9921
    E-ISSN: 1465-993X
    Source: BioMedCentral Open Access
    Source: Academic Search Ultimate
    Source: PubMed Central
    Source: Directory of Open Access Journals
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 8
    Language: English
    In: Histopathology, 2011-05-17, Vol.58 (6), p.944
    Description: Aims: Head and neck squamous cell carcinomas (HNSCC) are characterized by a poor prognosis. Cellular expression of heparanase, a degrading enzyme of the extracellular matrix (ECM), was associated with poorer prognosis in several cancers. In the present analysis we aimed to analyze its role for tumor growth and patient outcome in HNSCC. Methods & Results: We analyzed expression of the active form of heparanase in 71 human HNSCC using immunohistochemistry. Results were compared with clinicopathological data. Additionally, 65 cases of the study samples were stained against the proliferation marker MIB1. Cellular heparanase expression was detected in 41 of 71 (57.74%) cases, especially UICC IV-staged tumors showed high heparanase levels. Heparanase was localized mainly in the cytoplasm, to a lesser extent at the cell membrane. High levels of heparanase were significantly correlated with an almost 4-fold decrease of MIB1 labeling (p = 0.006). Comparison with clinical outcome revealed that patients with heparanase expression showed prolonged overall survival (p = 0.029). Conclusions: Although heparanase was mainly found in late stage HNSCCs, cellular heparanase expression in HNSCC significantly prolonged overall survival. We assume that the proliferation-reducing effect of high heparanase levels might outweigh tumor-promoting effects of heparanase, especially in advanced tumors.
    ISSN: 0309-0167
    E-ISSN: 1365-2559
    Source: Academic Search Ultimate
    Source: Wiley Online Library All Backfiles
    Source: Alma/SFX Local Collection
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 9
    Language: English
    In: Anticancer research, 2004-01-01, Vol.24 (1), p.325-331
    Description: Background: Reliable chemosensitivity testing of head and neck squamous cell carcinoma (HNSCC) still faces methodical limitations. Since stromal cell contamination has been found to preclude reliable radiosensitivity testing of HNSCC as well as chemosensitivity testing of lung tumors, the present study investigates the impact of stromal cell contamination on chemosensitivity testing of HNSCC. Patients and Methods: Seventeen biopsies from HNSCC were analyzed. The specimens were investigated using an ex vivo colony formation assay which allows for the quantitative and separate determination of the overall, as well as the epithelial, and stromal response to carboplatin, 5-fluorouracil and docetaxel. Results: The overall chemoresponse was dominated by stromal cell multidrug resistance. However, by selective evaluation of the epithelial chemoresponse, individual chemosensitivity patterns could be identified. Conclusion: Multidrug-resistant stromal cells preclude the reliable assessment of the chemoresponse of HNSCC specimens. Careful correction for stromal cell effects is a prerequisite for the generation of therapeutically useful information.
    Subject(s): Biological and medical sciences ; Medical sciences ; Tumors ; Tumor Stem Cell Assay ; Stromal Cells - pathology ; Carcinoma, Squamous Cell - pathology ; Humans ; KB Cells ; Middle Aged ; Head and Neck Neoplasms - drug therapy ; Male ; Head and Neck Neoplasms - pathology ; Carcinoma, Squamous Cell - drug therapy ; Biopsy ; Stromal Cells - drug effects ; Adult ; Female ; Aged ; Drug Screening Assays, Antitumor ; Index Medicus
    ISSN: 0250-7005
    E-ISSN: 1791-7530
    Source: HighWire Press (Free Journals)
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
  • 10
    Language: English
    In: Modern pathology, 2020-12-14
    Description: The genetic hallmark of epithelioid hemangioma (EH) is the presence of recurrent gene fusions involving FOS and FOSB transcription factors, which occur in one-third of the cases. Certain clinical, pathologic, and genotypic correlations have been described, with FOS-related fusions being more often detected in skeletal and cellular variants of EH, while FOSB gene rearrangements are more commonly associated with atypical histologic features and penile location. These fusions are infrequently detected in the cutaneous or head and neck EH. Overall, two-thirds of EH lack these canonical fusions and remain difficult to classify, especially when associated with atypical features and/or clinical presentations. Triggered by an index case of an intravascular soft tissue EH with a novel GATA6-FOXO1 gene fusion by targeted RNA sequencing (Archer® FusionPlex® Sarcoma Panel), we have investigated 27 additional EH cases negative for FOS and FOSB gene rearrangements for this novel abnormality to determine its recurrent potential, and its association with clinical and pathologic features. Four additional EH cases were found to display GATA6-FOXO1 fusions (18%). There were three females and two males, with a mean age of 32 years old. Three lesions occurred in the head and neck (dura, nasopharyngeal, and cheek), one in the back and one in the leg. Two of these lesions were cutaneous and one was intravascular in the subcutis of the leg. Microscopically, the tumors showed a variegated morphology, with alternating vasoformative and solid components, extravasated red blood cells and mild to moderate cytologic atypia. None showed brisk mitotic activity or necrosis. Tumors were negative for FOS and FOSB by immunohistochemistry. In conclusion, we report a new GATA6-FOXO1 fusion in a subset of EH, with a predilection for skin, and head and neck location. The relationship of this novel molecular subset with the more common FOS/FOSB fusion-positive EH remains to be determined.
    Subject(s): Index Medicus
    E-ISSN: 1530-0285
    Source: Nature Open Access
    Source: Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals
    Source: Alma/SFX Local Collection
    Source: © ProQuest LLC All rights reserved〈img src="https://exlibris-pub.s3.amazonaws.com/PQ_Logo.jpg" style="vertical-align:middle;margin-left:7px"〉
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...