Florian Puls

New and emerging entities of soft tissue sarcomas with uncertain differentiation

Florian Puls

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Characterization of SDHB and MGMT in Gastrointestinal stromal tumors

Marta Rós Berndsen, Yvonne Arvidsson, Bilal Almobarak, Florian Puls et autres

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Gastrin-releasing peptide receptor expression in gastrointestinal stromal tumours

Marta Rós Berndsen, Florian Puls, Anders Thornell, Yvonne Arvidsson et autres

Background There are limited treatment options for patients with advanced or metastatic gastrointestinal stromal tumours (GISTs) that lack mutations targetable by tyrosine kinase inhibitors (TKIs) or that have developed resistance to TKIs. Gastrin-releasing peptide receptor (GRPR) theranostics may offer a viable option …

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Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature

Carolina Maya‐González, Angelica Maria Delgado-Vega, Fulya Taylan, Kristina Lagerstedt‐Robinson et autres

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in FBN1, with a hitherto unknown association with cancer. Here, we present two females with MFS who developed pediatric neuroblastoma. Patient 1 presented with neonatal MFS and developed …

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Long-term outcome after surgical resection of non-high-risk gastrointestinal stromal tumours without adjuvant therapy

Marta Rós Berndsen, Sara Renberg, Toto Hølmebakk, Emma Hancke et autres

BACKGROUND: Gastrointestinal stromal tumour (GIST) is the most common intra-abdominal sarcoma. Risk classification systems, commonly the modified National Institutes of Health consensus criteria, identify tumour properties relating to patient outcomes. However, owing to limited long-term evidence, most guidelines recommend up to 10-year …

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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Elisabeth Wadensten, Sandra Wessman, Frida Abel, Teresita Díaz de Ståhl et autres

PURPOSE Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored. …

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Insertion of the CXXC domain of KMT2A into YAP1 : An unusual mechanism behind the formation of a chimeric oncogenic protein

Gabriel Teku, Jenny Nilsson, Linda Magnusson, Saskia Sydow et autres

Most neoplasia-associated gene fusions are formed through the fusion of the 5'-part of one gene with the 3'-part of another. We here describe a unique mechanism, by which a part of the KMT2A gene through an insertion replaces part of the YAP1 …

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Table S6 from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Elsa Arbajian, Florian Puls, Cristina R. Antonescu, Fernanda M Amary et autres

Expression of the SEF vs controls 100-top up-regulated genes in Tet-On 3G cells expressing the EWSR1-CREB3L1 fusion

Figure S1 from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Elsa Arbajian, Florian Puls, Cristina R. Antonescu, Fernanda M Amary et autres

Expression of MUC4 and 11p genes of interest

Figure S2 from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Elsa Arbajian, Florian Puls, Cristina R. Antonescu, Fernanda M Amary et autres

FACS analysis results for CD24 positivity

Supplementary Methods from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Elsa Arbajian, Florian Puls, Cristina R. Antonescu, Fernanda M Amary et autres

This file contains the details about methods not described in the article file

Table S1 from In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets

Elsa Arbajian, Florian Puls, Cristina R. Antonescu, Fernanda M Amary et autres

Clinical data