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Author Gernot Jundt

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H3F3A-mutated giant cell tumour of bone without giant cells-clinical presentation, radiology and histology of three cases.

Benedikt Leinauer, Eduard Wolf, Mathias Werner, Daniel Baumhoer, Thomas Breining, Andreas M Luebke, Rainer Maas, Markus Schultheiß, Alexandra von Baer, Anusch Sufi-Siavach, Christian Moritz, Sven Geißler, Kevin Mellert, Peter Möller, Thomas F E Barth, Gernot Jundt,

<h4>Aims</h4>Giant cell tumour of bone (GCTB) is histologically defined as a lesion containing reactive giant cells and a neoplastic mononuclear cell population; in up to 92% of cases, GCTB is characterised by a specific mutation of the histone gene H3F3A. The cellular composition ranges from giant-cell-rich to giant-cell-poor. The diagnosis ... Read more >>

Histopathology (Histopathology)
[2021, 79(5):720-730]

Cited: 1 time

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Experience with telepathology in combination with diagnostic assistance systems in countries with restricted resources.

Peter Fritz, Andreas Kleinhans, Monika Hubler, Raoufi Rokai, Haroon Firooz, Atiq Sediqi, Anna Khachatryan, Kambiz Sotoudeh, David Mamunts, Munaf Desai, Mohamed Omer, Dietmar Kunze, Nora Hinsch, Gernot Jundt, Peter Dalquen, German Ott, Al Alaboud Aboud, Mark-Dominik Alscher, Gerhard Stauch,

<h4>Introduction</h4>We describe the use of telepathology in countries with restricted resources using two diagnosis assistance systems (Isabel and Memem7) in addition to the diagnoses made by experts in pathology via the iPath-Network.<h4>Methods</h4>A total of 156 cases, largely from Afghanistan, were analysed; 18 cases had to be excluded because of poor ... Read more >>

J Telemed Telecare (Journal of telemedicine and telecare)
[2020, 26(7-8):488-494]

Cited: 2 times

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Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Michal Kovac, Claudia Blattmann, Sebastian Ribi, Jan Smida, Nikola S Mueller, Florian Engert, Francesc Castro-Giner, Joachim Weischenfeldt, Monika Kovacova, Andreas Krieg, Dimosthenis Andreou, Per-Ulf Tunn, Hans Roland Dürr, Hans Rechl, Klaus-Dieter Schaser, Ingo Melcher, Stefan Burdach, Andreas Kulozik, Katja Specht, Karl Heinimann, Simone Fulda, Stefan Bielack, Gernot Jundt, Ian Tomlinson, Jan O Korbel, Michaela Nathrath, Daniel Baumhoer,

Osteosarcomas are aggressive bone tumours with a high degree of genetic heterogeneity, which has historically complicated driver gene discovery. Here we sequence exomes of 31 tumours and decipher their evolutionary landscape by inferring clonality of the individual mutation events. Exome findings are interpreted in the context of mutation and SNP ... Read more >>

Nat Commun (Nature communications)
[2015, 6:8940]

Cited: 119 times

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Enthesopathy of the pectoralis major tendon mimicking osteoid osteoma. A case report with an unfortunate series of events.

Daniel Baumhoer, Gernot Jundt, Ulrich Lenze, Clemens Reisinger, Anna Hirschmann,

<h4>Background</h4>we present the case of an enthesopathy at the proximal humerus which was initially - due to the clinical history and a positive bone scintigraphy - regarded suspicious for metastatic breast cancer in a 50-year-old woman.<h4>Case report</h4>after complementing radiographs and a magnetic resonance (MR) examination exhibiting a focally contrast enhancing ... Read more >>

Muscles Ligaments Tendons J (Muscles, ligaments and tendons journal)
[2015, 5(3):223-226]

Cited: 0 times

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TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome.

Sebastian Ribi, Daniel Baumhoer, Kristy Lee, Edison, Audrey S M Teo, Babita Madan, Kang Zhang, Wendy K Kohlmann, Fei Yao, Wah Heng Lee, Qiangze Hoi, Shaojiang Cai, Xing Yi Woo, Patrick Tan, Gernot Jundt, Jan Smida, Michaela Nathrath, Wing-Kin Sung, Joshua D Schiffman, David M Virshup, Axel M Hillmer,

Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS ... Read more >>

Oncotarget (Oncotarget)
[2015, 6(10):7727-7740]

Cited: 31 times

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Cancer-related therapies at the end of life in hospitalized cancer patients from four Swiss cantons: SAKK 89/09.

Klazien W Matter-Walstra, Rita Achermann, Roland Rapold, Dirk Klingbiel, Andrea Bordoni, Silvia Dehler, Gernot Jundt, Isabelle Konzelmann, Kerri Clough-Gorr, Thomas Szucs, Bernhard C Pestalozzi, Matthias Schwenkglenks,

The use of cancer-related therapies in cancer patients hospitalized at the end of life has increased in many countries over time. Given the scarcity of published Swiss data, the objective of this study was to evaluate the influence of hospital type and other factors on the delivery of health care ... Read more >>

Oncology (Oncology)
[2015, 88(1):18-27]

Cited: 4 times

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Delivery of health care at the end of life in cancer patients of four swiss cantons: a retrospective database study (SAKK 89/09).

Klazien W Matter-Walstra, Rita Achermann, Roland Rapold, Dirk Klingbiel, Andrea Bordoni, Silvia Dehler, Gernot Jundt, Isabelle Konzelmann, Kerri M Clough-Gorr, Thomas D Szucs, Matthias Schwenkglenks, Bernhard C Pestalozzi,

<h4>Background</h4>The use of cancer related therapy in cancer patients at the end-of-life has increased over time in many countries. Given a lack of published Swiss data, the objective of this study was to describe delivery of health care during the last month before death of cancer patients.<h4>Methods</h4>Claims data were used ... Read more >>

BMC Cancer (BMC cancer)
[2014, 14:306]

Cited: 6 times

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Immunohistochemical and FISH analysis of MDM2 and CDK4 in a dedifferentiated extraskeletal osteosarcoma arising in the vastus lateralis muscle: differential diagnosis and diagnostic algorithm.

Alexandra von Baer, Alexander Ehrhardt, Daniel Baumhoer, Regine Mayer-Steinacker, Markus Schultheiss, Thair Abdul-Nou, Thomas Mentzel, Falko Fend, Peter Möller, Gernot Jundt, Thomas F E Barth,

Extraskeletal osteosarcoma is a rare neoplasia within the broad differential diagnostic spectrum of calcifying intramuscular lesions. We present a case of a slowly increasing mass within the left vastus lateralis muscle. At first presentation the patient showed a partially calcified well defined mass with a diameter of 5 cm and ... Read more >>

Pathol Res Pract (Pathology, research and practice)
[2014, 210(10):698-703]

Cited: 4 times

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Engineered autologous cartilage tissue for nasal reconstruction after tumour resection: an observational first-in-human trial.

Ilario Fulco, Sylvie Miot, Martin D Haug, Andrea Barbero, Anke Wixmerten, Sandra Feliciano, Francine Wolf, Gernot Jundt, Anna Marsano, Jian Farhadi, Michael Heberer, Marcel Jakob, Dirk J Schaefer, Ivan Martin,

<h4>Background</h4>Autologous native cartilage from the nasal septum, ear, or rib is the standard material for surgical reconstruction of the nasal alar lobule after two-layer excision of non-melanoma skin cancer. We assessed whether engineered autologous cartilage grafts allow safe and functional alar lobule restoration.<h4>Methods</h4>In a first-in-human trial, we recruited five patients ... Read more >>

Lancet (Lancet (London, England))
[2014, 384(9940):337-346]

Cited: 64 times

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Upregulation of the miR-17-92 cluster and its two paraloga in osteosarcoma - reasons and consequences.

Leila Arabi, Joël R Gsponer, Jan Smida, Michaela Nathrath, Valeria Perrina, Gernot Jundt, Christian Ruiz, Luca Quagliata, Daniel Baumhoer,

Osteosarcomas (OS) are aggressive bone tumors characterized by complex karyotypes with highly variable structural and numerical chromosomal aberrations. Although several genes and pathways commonly altered in malignant tumors have also been identified in OS, the molecular pathogenesis and driving genetic events eventually leading to tumor development are still poorly understood. ... Read more >>

Genes Cancer (Genes & cancer)
[2014, 5(1-2):56-63]

Cited: 17 times

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Incarcerated umbilical hernia of unexpected origin: a primitive neuroectodermal tumor with early recurrence.

Raoul A Droeser, Sacha I Rothschild, Luigi Tornillo, Gernot Jundt, Christoph Kettelhack, Daniel Oertli, Philipp Kirchhoff,

J Clin Oncol (Journal of clinical oncology : official journal of the American Society of Clinical Oncology)
[2014, 32(5):e3-6]

Cited: 2 times

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Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

Sam Behjati, Patrick S Tarpey, Nadège Presneau, Susanne Scheipl, Nischalan Pillay, Peter Van Loo, David C Wedge, Susanna L Cooke, Gunes Gundem, Helen Davies, Serena Nik-Zainal, Sancha Martin, Stuart McLaren, Victoria Goodie, Ben Robinson, Adam Butler, Jon W Teague, Dina Halai, Bhavisha Khatri, Ola Myklebost, Daniel Baumhoer, Gernot Jundt, Rifat Hamoudi, Roberto Tirabosco, M Fernanda Amary, P Andrew Futreal, Michael R Stratton, Peter J Campbell, Adrienne M Flanagan,

It is recognized that some mutated cancer genes contribute to the development of many cancer types, whereas others are cancer type specific. For genes that are mutated in multiple cancer classes, mutations are usually similar in the different affected cancer types. Here, however, we report exquisite tumor type specificity for ... Read more >>

Nat Genet (Nature genetics)
[2013, 45(12):1479-1482]

Cited: 291 times

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Osteosarcomas of the jaws differ from their peripheral counterparts and require a distinct treatment approach. Experiences from the DOESAK Registry.

Daniel Baumhoer, Philippe Brunner, Serenella Eppenberger-Castori, Jan Smida, Michaela Nathrath, Gernot Jundt,

<h4>Objective</h4>We aim to emphasize crucial differences between osteosarcomas of the jaws (OSj) and those of the peripheral skeleton (OSp) and to question current therapeutic concepts in presenting a comprehensive study on 214 patients.<h4>Background</h4>OSj account for only 6% of all osteosarcomas (OS) but seem to represent a clinically and prognostically distinct ... Read more >>

Oral Oncol (Oral oncology)
[2014, 50(2):147-153]

Cited: 16 times

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Risk factors for anal cancer in persons infected with HIV: a nested case-control study in the Swiss HIV Cohort Study.

Barbara Bertisch, Silvia Franceschi, Mauro Lise, Pietro Vernazza, Olivia Keiser, Franziska Schöni-Affolter, Christine Bouchardy, Silvia Dehler, Fabio Levi, Gernot Jundt, Silvia Ess, Michael Pawlita, Helen Kovari, Gilles Wandeler, Alexandra Calmy, Matthias Cavassini, Marcel Stöckle, Gary Clifford, ,

Although persons infected with human immunodeficiency virus (HIV), particularly men who have sex with men, are at excess risk for anal cancer, it has been difficult to disentangle the influences of anal exposure to human papillomavirus (HPV) infection, immunodeficiency, and combined antiretroviral therapy. A case-control study that included 59 anal ... Read more >>

Am J Epidemiol (American journal of epidemiology)
[2013, 178(6):877-884]

Cited: 67 times

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Meta-analysis of IDH-mutant cancers identifies EBF1 as an interaction partner for TET2.

Paul Guilhamon, Malihe Eskandarpour, Dina Halai, Gareth A Wilson, Andrew Feber, Andrew E Teschendorff, Valenti Gomez, Alexander Hergovich, Roberto Tirabosco, M Fernanda Amary, Daniel Baumhoer, Gernot Jundt, Mark T Ross, Adrienne M Flanagan, Stephan Beck,

Isocitrate dehydrogenase (IDH) genes 1 and 2 are frequently mutated in acute myeloid leukaemia (AML), low-grade glioma, cholangiocarcinoma (CC) and chondrosarcoma (CS). For AML, low-grade glioma and CC, mutant IDH status is associated with a DNA hypermethylation phenotype, implicating altered epigenome dynamics in the aetiology of these cancers. Here we ... Read more >>

Nat Commun (Nature communications)
[2013, 4:2166]

Cited: 89 times

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MicroRNA profiling with correlation to gene expression revealed the oncogenic miR-17-92 cluster to be up-regulated in osteosarcoma.

Daniel Baumhoer, Stephanie Zillmer, Kristian Unger, Michael Rosemann, Michael J Atkinson, Martin Irmler, Johannes Beckers, Heide Siggelkow, Irene von Luettichau, Gernot Jundt, Jan Smida, Michaela Nathrath,

Osteosarcomas are genetically complex tumors with abundant structural and numerical alterations. The molecular pathogenesis of the disease is, however, still poorly understood. Aside from various oncogenes and tumor suppressor genes, deregulated microRNAs (miRNAs) are known to influence tumor development and biology. We therefore investigated six well-established osteosarcoma cell lines (HOS58, ... Read more >>

Cancer Genet (Cancer genetics)
[2012, 205(5):212-219]

Cited: 40 times

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Deregulated HOX genes in ameloblastomas are located in physical contiguity to keratin genes.

Giulia Schiavo, Vincenzo D'Antò, Monica Cantile, Alfredo Procino, Stefano Di Giovanni, Rossella Valletta, Luigi Terracciano, Daniel Baumhoer, Gernot Jundt, Clemente Cillo,

The expression of the HOX gene network in mid-stage human tooth development mostly concerns the epithelial tooth germ compartment and involves the C and D HOX loci. To further dissect the HOX gene implication with tooth epithelium differentiation we compared the expression of the whole HOX network in human ameloblastomas, ... Read more >>

J Cell Biochem (Journal of cellular biochemistry)
[2011, 112(11):3206-3215]

Cited: 11 times

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The nature of the characteristic cementum-like matrix deposits in the walls of simple bone cysts.

Daniel Baumhoer, Jan Smida, Michaela Nathrath, Gernot Jundt,

<h4>Aims</h4>Simple bone cysts (SBC) are benign tumour-like lesions, generally occurring in the metaphyses of long bones before skeletal maturity. Remarkably, in 10-70% of cases, a peculiar, amorphous and hypocellular matrix is found in the walls of SBCs which is usually regarded to consist of (calcified) fibrin clots in the literature. ... Read more >>

Histopathology (Histopathology)
[2011, 59(3):390-396]

Cited: 5 times

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Vascular and perivascular lesions of skin and soft tissues in children and adolescents.

Elisabeth Bruder, Rita Alaggio, Harry P W Kozakewich, Gernot Jundt, Louis P Dehner, Cheryl M Coffin,

Vascular anomalies in children and adolescents are the most common soft tissue lesions and include reactive, malformative, and neoplastic tumefactions, with a full spectrum of benign, intermediate, and malignant neoplasms. These lesions are diagnostically challenging because of morphologic complexity and recent changes in classification systems, some of which are based ... Read more >>

Pediatr Dev Pathol (Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society)
[2012, 15(1 Suppl):26-61]

Cited: 7 times

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Strong expression of CXCL12 is associated with a favorable outcome in osteosarcoma.

Daniel Baumhoer, Jan Smida, Stephanie Zillmer, Michael Rosemann, Michael J Atkinson, Peter J Nelson, Gernot Jundt, Irene von Luettichau, Michaela Nathrath,

Hematogenous spread determines the outcome of osteosarcoma (OS) patients, but the pathogenesis of developing metastatic disease is still unclear. Chemokines are critical regulators of cell trafficking and adhesion, and have been reported to be aberrantly expressed and to correlate with an unfavorable prognosis and metastatic spread in several malignant tumors. ... Read more >>

Mod Pathol (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc)
[2012, 25(4):522-528]

Cited: 22 times

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CRIP1 expression is correlated with a favorable outcome and less metastases in osteosarcoma patients.

Daniel Baumhoer, Mareike Elsner, Jan Smida, Stephanie Zillmer, Sandra Rauser, Cédrik Schoene, Benjamin Balluff, Stefan Bielack, Gernot Jundt, Axel Walch, Michaela Nathrath,

Predicting the clinical course of osteosarcoma patients is a crucial prerequisite for a better treatment stratification in these highly aggressive neoplasms of bone. In search of new and reliable biomarkers we recently identified cysteine-rich intestinal protein 1 (CRIP1) to have significant prognostic impact in gastric cancer and therefore decided to ... Read more >>

Oncotarget (Oncotarget)
[2011, 2(12):970-975]

Cited: 14 times

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Synovial sarcoma in patients under 20 years of age: a multicenter study with a minimum follow-up of 10 years.

Bernhard M Speth, Andreas H Krieg, Andre Kaelin, G Ulrich Exner, Louis Guillou, Arthur von Hochstetter, Gernot Jundt, Fritz Hefti,

<h4>Purpose</h4>Synovial sarcoma (SS) is an aggressive soft-tissue tumor noted for late local recurrence and metastasis. This study investigates the long-term outcome of SS in patients of pediatric age and evaluates potential prognostic factors for SS.<h4>Methods</h4>We performed a retrospective review of 13 SS cases in patients younger than 20 years at the ... Read more >>

J Child Orthop (Journal of children's orthopaedics)
[2011, 5(5):335-342]

Cited: 11 times

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Solitary skeletal osteosarcoma recurrence. Findings from the Cooperative Osteosarcoma Study Group.

Markus Franke, Jendrik Hardes, Knut Helmke, Gernot Jundt, Heribert Jürgens, Beate Kempf-Bielack, Matthias Kevric, Per-Ulf Tunn, Mathias Werner, Stefan Bielack,

<h4>Background</h4>Solitary skeletal osteosarcoma (OS) manifestations distant from the site of the primary tumor rarely arise as only sign of disease recurrence.<h4>Methods</h4>This report reviews 38 patients with high-grade central OS of the limbs or axial skeleton and initial complete surgical remission (CR) who developed first recurrences as solitary osseous lesions distant ... Read more >>

Pediatr Blood Cancer (Pediatric blood & cancer)
[2011, 56(5):771-776]

Cited: 13 times

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Osteosarcoma in very young children: experience of the Cooperative Osteosarcoma Study Group.

Leo Kager, Andreas Zoubek, Martin Dominkus, Susanna Lang, Nicole Bodmer, Gernot Jundt, Thomas Klingebiel, Heribert Jürgens, Helmut Gadner, Stefan Bielack, ,

<h4>Background</h4>This study was conducted to investigate presentation, treatment, and outcome in very young children with osteosarcoma.<h4>Methods</h4>The authors retrospectively analyzed the data of 2706 consecutive COSS patients with newly diagnosed osteosarcoma and identified 28 (1.0%) patients aged younger than 5 years at diagnosis. Demographic, diagnostic, tumor, treatment-related variables, response, and survival ... Read more >>

Cancer (Cancer)
[2010, 116(22):5316-5324]

Cited: 25 times

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Aberrant expression of the human epidermal growth factor receptor 2 oncogene is not a common feature in osteosarcoma.

Daniel Baumhoer, Jan Smida, Katja Specht, Karin Bink, Leticia Quintanilla-Martinez, Michael Rosemann, Heide Siggelkow, Walter B J Nathrath, Michael J Atkinson, Stefan Bielack, Gernot Jundt, Michaela Nathrath,

Human epidermal growth factor receptor 2 expression in osteosarcoma and its relationship to prognosis have been the subject of several conflicting reports, most of them relying on immunohistochemical studies. Because the urgent need of prognostic markers and effective new treatment options for osteosarcoma patients, we evaluated the role of human ... Read more >>

Hum Pathol (Human pathology)
[2011, 42(6):859-866]

Cited: 3 times

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