Article
Pathology
Laura M. Warmke, Jeanne M. Meis
Summary: Sclerosing epithelioid fibrosarcoma (SEF) is a distinct sarcoma with genetic and behavioral differences compared to low grade fibromyxoid sarcoma (LGFMS). SEF behaves more aggressively than LGFMS with a shorter survival, higher metastatic rate, and a greater propensity to involve deep soft tissue and bone.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Review
Immunology
Khaled A. Murshed, Issam Al-Bozom, Adham Ammar
Summary: Sclerosing epithelioid fibrosarcoma (SEF) is a rare soft tissue sarcoma closely related to low-grade fibromyxoid sarcoma (LGFMS). SEF typically affects the lower extremities of middle-aged adults, with characteristic morphological, immunophenotypic, and molecular features.
Review
Medicine, General & Internal
Changhong Wei, Yili Ma, Dengqiang Wu, Xiaoyu Chen, Chunjun Li, Jun Chen, Sufang Zhou
Summary: This is a case report of a rare subtype of soft tissue tumor called sclerosing epithelioid fibrosarcoma (SEF) originating from the side of the spine. The patient, a 28-year-old woman, presented with chest pain and back pain for 3 years. Enhanced CT showed invasion of the adjacent bone by a mass in the right posterior upper chest wall. After undergoing tumor removal surgery, the pathological examination confirmed the diagnosis of SEF.
FRONTIERS IN MEDICINE
(2022)
Article
Cell Biology
Alberto Righi, Marina Pacheco, Valerio Pipola, Marco Gambarotti, Stefania Benini, Marta Sbaraglia, Tommaso Frisoni, Stefano Boriani, Angelo P. Dei Tos, Alessandro Gasbarrini
Summary: Spinal sclerosing epithelioid fibrosarcoma (SEF) is an aggressive sarcoma commonly found in adults, with a median age of 41 years. It often affects the lumbar vertebrae and presents with persistent pain lasting for months. Tumors typically show a spectrum of microscopic features, and some cases may be misdiagnosed as other diseases such as epithelioid haemangioendothelioma or aggressive chondroblastoma. The prognosis for patients with SEF is poor, with a high likelihood of local recurrence and distant metastases.
Article
Pathology
Amy Armstrong, Fouad Boulos, Sakil Kulkarni, Janis Stoll, Maria Bernadette Majella Doyle, Adeel Khan, Mai He
Summary: We report the second case of hepatic sclerosing epithelioid fibrosarcoma (SEF) in literature, which is a rare and aggressive sarcoma. The patient, a 17-year-old female, presented with a large liver mass and elevated liver enzymes and cancer antigen 19-9. Needle biopsy revealed dense fibrotic tissue and epithelioid cells, and immunohistochemistry showed strong staining of MUC4, indicating a diagnosis of SEF/low-grade fibromyxoid sarcoma (LGFMS). The confirmatory diagnosis was made based on the presence of EWSR1::CREB3L1 gene fusion in the liver explant.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
(2023)
Review
Clinical Neurology
Hai-Tao Liu, Yue-Hui Zhang, Jia Song, Jiang Shao
Summary: Sclerosing epithelioid fibrosarcoma (SEF) is a rare subtype of soft tissue tumor, and primary SEF arising from the spine is even rarer. This article reports a case of a 61-year-old female patient who underwent surgery and was diagnosed with SEF.
BRITISH JOURNAL OF NEUROSURGERY
(2023)
Article
Pathology
Kemal Kosemehmetoglu, Fisun Ardic, Scott E. Kilpatrick, Ustun Aydingoz, Vaiyapuri P. Sumathi, Michael Michal
Summary: Primary sclerosing epithelioid fibrosarcoma (SEF) of bone is a rare neoplasm that predominantly affects flat or irregular bones. Due to overlapping histological features with other tumors, it is often misdiagnosed. Most cases exhibit EWSR1 rearrangements, but rare cases may have a FUS gene fusion.
Article
Pathology
Catherine K. Gestrich, Jessica L. Davis, Laura Biederman, Ivy John, Rita Alaggio, Isabella Giovannoni, Michael A. Arnold, Archana Shenoy, Amanda Tchakarov, Alyaa Al-Ibraheemi
Summary: This study describes the clinicopathological features of 7 ALK-rearranged mesenchymal tumors with epithelioid morphology, predominantly occurring in the pediatric population, and shows that these tumors have a certain degree of invasiveness.
Article
Orthopedics
David I. I. Suster, John M. M. Gross, Laura Fayad, Cornelia Wenokor, Jeffrey D. D. Goldsmith, Ashley Ward, Caroline Early, Santiago Lazano-Calderon, Michael J. J. Klein
Summary: Primary bone tumors with sclerosing epithelioid fibrosarcoma (SEF) are extremely rare, and even rarer are cases that show morphologic overlap with low-grade fibromyxoid sarcoma (LGFMS). These tumors, which have variegated histomorphology and non-specific radiologic features, can pose diagnostic difficulties.
SKELETAL RADIOLOGY
(2023)
Article
Medicine, General & Internal
Neha Pathak, Aanchal Kakkar, Seema Kaushal, Atul Batra
Summary: A woman in her 20s presented with headache and back pain, and was diagnosed with stage 4 clear cell sarcoma of the kidney with bony metastases. After initial treatment, the disease progressed and the final diagnosis of sclerosing epithelioid fibrosarcoma of the kidney was confirmed using next-generation sequencing. Currently, the patient is on her third line of chemotherapy and doing well.
Article
Pathology
Justin L. Kurtz, Serena Y. Tan, Florette K. Hazard
Summary: SEF is a rare variant of fibrosarcoma that usually presents with aggressive clinical course despite morphologically looking like a low-grade sarcoma. It often occurs in middle aged adults, showing immunoexpression of MUC4 and recurrent gene fusions such as EWSR1-CREB3L1. This case demonstrates that SEF can occur in pre-adolescents and should be considered when evaluating primary renal tumors.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
(2021)
Article
Orthopedics
Masafumi Kawai, Shinji Miwa, Norio Yamamoto, Katsuhiro Hayashi, Akihiko Takeuchi, Kentaro Igarashi, Yuta Taniguchi, Yoshihiro Araki, Hirotaka Yonezawa, Takayuki Nojima, Hiroyuki Tsuchiya
Summary: This is a case report on sclerosing epithelioid fibrosarcoma (SEF). The patient underwent a CT-guided core needle biopsy, and it was found that the tumor recurred at the biopsy tract after excision. This case suggests the potential risk of tumor dissemination in needle biopsies of soft tissue sarcomas.
BMC MUSCULOSKELETAL DISORDERS
(2023)
Article
Oncology
Akhil Santhosh, Jay Mehta, Adarsh Barwad, Shamim A. Shamim, Sameer Rastogi
Summary: Sclerosing epithelioid fibrosarcoma (SEF) is an extremely rare subtype of soft tissue sarcoma commonly found in the limbs, head and neck, trunk, as well as visceral organs ad bones. The disease is characterized by local recurrence and metastatic spread, and is often diagnosed based on factors such as MUC 4 positivity, FUS-CREB3L1 fusion, and EWSR1 rearrangement. The response to systemic therapy is poor, highlighting the need for further research in this area.
ECANCERMEDICALSCIENCE
(2022)
Article
Cell Biology
Madalena Souto Moura, Joao Costa, Valerie Velasco, Felix Kommoss, Esther Oliva, Francois Le Loarer, W. Glenn McCluggage, Rubina Razack, Isabelle Treilleux, Anne Mills, Teri Longacre, Mojgan Devouassoux-Shisheboran, Isabelle Hostein, Rihab Azmani, Larry Blanchard, Cecile Hartog, Isabelle Soubeyran, Emmanuel Khalifa, Sabrina Croce
Summary: The pan-TRK immunohistochemistry can be used for the diagnosis of NTRK-rearranged sarcomas and distinguish them from mimics.
Review
Surgery
Karim Khezami, Ahmed Gharbi, Mohamed Chabaane, Mohamed Amine Bennour, Habib Nouri
Summary: Sclerosing epithelioid fibrosarcoma (SEF) is a rare tumor with poor prognosis and difficult diagnosis. Detailed patient history is important, and early diagnosis is crucial for improving prognosis.
INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS
(2021)
Article
Pathology
Alyaa Al-Ibraheemi, Andrew L. Folpe, Antonio R. Perez-Atayde, Kyle Perry, Jakob Hofvander, Elsa Arbajian, Linda Magnusson, Jenny Nilsson, Fredrik Mertens
Article
Cell Biology
Giuseppe Piarulli, Florian Puls, Bo Wangberg, Henrik Fagman, Magnus Hansson, Jenny Nilsson, Elsa Arbajian, Fredrik Mertens
Article
Pathology
Nora Schaumanna, Mieke Raap, Laura Hinze, Luisa Rieger, Christian M. Schurch, Wiebke Antonopoulos, Stefanie Avril, Till Krech, Maximilian Daemmrich, Gian Kayser, Florian Puls, Florian Laenger, Marianne Tinguely, Hans Kreipe, Matthias Christgen
PATHOLOGY RESEARCH AND PRACTICE
(2019)
Article
Oncology
Elsa Arbajian, Jakob Hofvander, Linda Magnusson, Fredrik Mertens
GENES CHROMOSOMES & CANCER
(2020)
Article
Pathology
Jakob Hofvander, Vickie Y. Jo, Christopher D. M. Fletcher, Florian Puls, Uta Flucke, Jenny Nilsson, Linda Magnusson, Fredrik Mertens
Article
Oncology
Jan Koster, Elsa Arbajian, Bjorn Viklund, Anders Isaksson, Jakob Hofvander, Felix Haglund, Henrik Bauer, Linda Magnusson, Nils Mandahl, Fredrik Mertens
Article
Oncology
Helena Liljedahl, Anna Karlsson, Gudrun N. Oskarsdottir, Annette Salomonsson, Hans Brunnstrom, Gigja Erlingsdottir, Mats Jonsson, Sofi Isaksson, Elsa Arbajian, Cristian Ortiz-Villalon, Aziz Hussein, Bengt Bergman, Anders Vikstrom, Nastaran Monsef, Eva Branden, Hirsh Koyi, Luigi de Petris, Annika Patthey, Annelie F. Behndig, Mikael Johansson, Maria Planck, Johan Staaf
Summary: Gene expression-based single sample predictors can provide molecular subtype and independent prognostic information in early-stage lung adenocarcinoma. These predictors may overcome critical limitations in the applicability of gene signatures in lung cancer.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Oncology
Elsa Arbajian, Mattias Aine, Anna Karlsson, Johan Vallon-Christersson, Hans Brunnstrom, Josef Davidsson, Sofie Mohlin, Maria Planck, Johan Staaf
Article
Pathology
Bharat Rekhi, Michael Michal, Fatma Bilge Ergen, Paromita Roy, Florian Puls, Hans Kristian Haugland, Figen Soylemezoglu, Kemal Kosemehmetoglu
Summary: Poorly differentiated chordomas are a newly recognized entity that displays a spectrum of features and aggressive outcomes. Timely diagnosis requires critical analysis of radiological and histopathological features, including necessary immunostains such as brachyury and SMARCB1/INI1. These tumors typically show loss of SMARCB1/INI1 immunostaining and homozygous deletion of the INI1/SMARCB1 gene, and are associated with a lower index of suspicion for diagnosis.
ANNALS OF DIAGNOSTIC PATHOLOGY
(2021)
Article
Oncology
Johan Staaf, Mattias Aine, Deborah F. Nacer, Maria Planck, Elsa Arbajian
Summary: This study investigated the differences in clinical characteristics, molecular alterations, and molecular phenotypes between patient populations with early-stage lung adenocarcinoma with respect to age at diagnosis. It was found that younger patients were more likely to harbor certain driver mutations. Age was also associated with certain mutational signatures, but did not affect transcriptional, copy number, or epigenetic variation in the tumors.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Oncology
Janne Lehtio, Taner Arslan, Ioannis Siavelis, Yanbo Pan, Fabio Socciarelli, Olena Berkovska, Husen M. Umer, Georgios Mermelekas, Mohammad Pirmoradian, Mats Jonsson, Hans Brunnstrom, Odd Terje Brustugun, Krishna Pinganksha Purohit, Richard Cunningham, Hassan Foroughi Asl, Sofi Isaksson, Elsa Arbajian, Mattias Aine, Anna Karlsson, Marija Kotevskaz, Carsten Gram Hansen, Vilde Drageset Haakensen, Aslaug Helland, David Tamborero, Henrik J. Johansson, Rui M. Branca, Maria Planckz, Johan Staaf, Lukas M. Orre
Summary: Researchers conducted a proteogenomic analysis of non-small cell lung cancer, identifying molecular subtypes with distinct immune-evasion mechanisms and therapeutic targets. They validated their classification method in separate clinical cohorts, discovering high neoantigen burden linked to global hypomethylation and immune evasion mechanisms associated with STK11 mutation-dependent HNF1A activation and FGL1 expression. Furthermore, they developed a data-independent acquisition mass-spectrometry-based NSCLC subtype classification method, validating it in independent cohorts and demonstrating clinical utility.
Article
Oncology
Sara Bjursten, Christoffer Vannas, Stefan Filges, Florian Puls, Ankur Pandita, Henrik Fagman, Anders Stahlberg, Max Levin
CASE REPORTS IN ONCOLOGY
(2019)