Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid Stoffw Microb

Brcic, I; Scheipl, S; Bergovec, M; Leithner, A; Szkandera, J; Sotlar, K; Suda, A; Smolle, MA; Kraus, T; Rosenberg, AE; Liegl-Atzwanger, B; Igrec, J.
Implementation of Copy Number Variations-Based Diagnostics in Morphologically Challenging EWSR1/FUS::NFATC2 Neoplasms of the Bone and Soft Tissue.
Int J Mol Sci. 2022; 23(24): Doi: 10.3390/ijms232416196 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Führende Autor*innen der Med Uni Graz
Brcic Iva
Liegl-Atzwanger Bernadette
Co-Autor*innen der Med Uni Graz
Bergovec Marko
Igrec Jasminka
Kraus Tanja
Leithner Andreas
Scheipl Susanne
Smolle Maria Anna
Szkandera Joanna

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In the last decade, new tumor entities have been described, including EWSR1/FUS::NFATC2-rearranged neoplasms of different biologic behavior. To gain further insights into the behavior of these tumors, we analyzed a spectrum of EWSR1/FUS::NFATC2-rearranged neoplasms and discuss their key diagnostic and molecular features in relation to their prognosis. We report five patients with EWSR1/FUS::NFATC2-rearranged neoplasms, including one simple bone cyst (SBC), two complex cystic bone lesions lacking morphological characteristics of SBC, and two sarcomas. In three cases, fluorescence in situ hybridization (FISH) and in all cases copy number variation (CNV) profiling and fusion analyses were performed. All patients were male, three cystic lesions occurred in children (aged 10, 14, and 17 years), and two sarcomas in adults (69 and 39 years). Fusion analysis revealed two FUS::NFATC2 rearrangements in two cystic lesions and three EWSR1::NFATC2 rearrangements in one complex cystic lesion and two sarcomas. EWSR1 FISH revealed tumor cells with break-apart signal without amplification in one complex cystic lesion and EWSR1 amplification in both sarcomas was documented. CNV analysis showed simple karyotypes in all cystic lesions, while more complex karyotypes were found in NFATC2-rearranged sarcomas. Our study supports and expands previously reported molecular findings of EWSR1/FUS::NFATC2-rearranged neoplasms. The study highlights the importance of combining radiology and morphologic features with molecular aberrations. The use of additional molecular methods, such as CNV and FISH in the routine diagnostic workup, can be crucial in providing a correct diagnosis and avoiding overtreatment.
Find related publications in this database (using NLM MeSH Indexing)
Female - administration & dosage
Humans - administration & dosage
Male - administration & dosage
Bone Neoplasms - diagnosis, genetics, pathology
DNA Copy Number Variations - administration & dosage
In Situ Hybridization, Fluorescence - administration & dosage
NFATC Transcription Factors - genetics
Oncogene Proteins, Fusion - genetics
RNA-Binding Protein EWS - genetics
RNA-Binding Protein FUS - genetics
Sarcoma - diagnosis, genetics
Soft Tissue Neoplasms - diagnosis
Transcription Factors - administration & dosage
Child - administration & dosage
Adolescent - administration & dosage
Adult - administration & dosage
Aged - administration & dosage

Find related publications in this database (Keywords)
simple bone cyst
copy number variations
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