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Special Issue "Novel Insights into Soft Tissue Sarcoma"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 30 November 2021.

Special Issue Editor

Prof. Dr. Zsuzsanna Pápai
E-Mail Website
Guest Editor
Semmelweis University, Budapest, Hungary

Special Issue Information

Dear Colleagues,

Soft tissue sarcomas (STSs) comprise 1% of adult malignant tumors (7% of childhood malignancies). Sarcomas encompass a heterogeneous group of malignancies of mesenchymal origin and may occur in any site of the body, which represents an additional challenge when it comes to therapy. They are a heterogeneous group of rare tumors, with more than 50 histological subtypes of STSs (WHO classification of tumors) having been identified, of which the most common in adults are malignant fibrous histiocytoma (28%), leiomyosarcoma (12%), liposarcoma (15%), synovial sarcoma (10%), and malignant peripheral nerve sheath tumors (6%). While the prognosis is good for patients diagnosed at an early stage and treated by adequate surgery, unresectable or metastatic diseases shrink the overall survival at 5 years to less than 10%, creating an unmet medical need.

The medical treatment of adult soft tissue sarcomas is more and more dictated by the histological subtype; this applies to both cytotoxic and target therapies. Anthracycline- and ifosfamide-based chemotherapies are the main therapeutic agents in the neoadjuvant, adjuvant, and metastatic adult-type STS disease settings, primarily for high-grade tumors, with the best-established response rates in adult soft tissue sarcomas for several years. In addition to this compound, there is evidence of efficacy of new drugs. Based on our current knowledge, 5–10% of all malignancies are part of hereditary cancer syndromes. Although the increasing diagnostic role of molecular genetic testing make us able to recognize more hereditary cancer patients, the careful exploration of family and clinical history by physicians is still the most important step for the diagnosis. Sarcomas are only 1% of all malignancies, but they often associate with familiar diseases so they can serve as an indicator of these syndromes. The diagnosis of hereditary cancer predisposition syndromes is essential to ensure appropriate therapy and follow-up for our patients. Multidisciplinary approach is mandatory in all cases (involving pathologist, radiologist, surgeons, radiation therapists, medical oncologists), and it should be carried out in reference centers for sarcomas.

Prof. Dr. Zsuzsanna Pápai
Guest Editor

Manuscript Submission Information

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Published Papers (1 paper)

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Research

Article
A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report
Int. J. Mol. Sci. 2021, 22(14), 7514; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22147514 - 13 Jul 2021
Viewed by 852
Abstract
Solitary fibrous tumor is a rare subtype of soft-tissue sarcoma with a wide spectrum of histopathological features and clinical behaviors, ranging from mildly to highly aggressive tumors. The defining genetic driver alteration is the gene fusion NAB2–STAT6, resulting from a paracentric inversion [...] Read more.
Solitary fibrous tumor is a rare subtype of soft-tissue sarcoma with a wide spectrum of histopathological features and clinical behaviors, ranging from mildly to highly aggressive tumors. The defining genetic driver alteration is the gene fusion NAB2–STAT6, resulting from a paracentric inversion within chromosome 12q, and involving several different exons in each gene. STAT6 (signal transducer and activator of transcription 6) nuclear immunostaining and/or the identification of NAB2–STAT6 gene fusion is required for the diagnostic confirmation of solitary fibrous tumor. In the present study, a new gene fusion consisting of Nuclear Factor I X (NFIX), mapping to 19p13.2 and STAT6, mapping to 12q13.3 was identified by targeted RNA-Seq in a 74-year-old female patient diagnosed with a deep-seated solitary fibrous tumor in the pelvis. Histopathologically, the neoplasm did not display nuclear pleomorphism or tumor necrosis and had a low proliferative index. A total of 378 unique reads spanning the NFIXexon8–STAT6exon2 breakpoint with 55 different start sites were detected in the bioinformatic analysis, which represented 59.5% of the reads intersecting the genomic location on either side of the breakpoint. Targeted RNA-Seq results were validated by RT-PCR/ Sanger sequencing. The identification of a new gene fusion partner for STAT6 in solitary fibrous tumor opens intriguing new hypotheses to refine the role of STAT6 in the sarcomatogenesis of this entity. Full article
(This article belongs to the Special Issue Novel Insights into Soft Tissue Sarcoma)
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