Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Henzinger, H; Brčić, I; Igrec, J; Godschachner, TM; Scheipl, S; Szkandera, J; Jurmeister, P; Liegl-Atzwanger, B.
The Role of Methylation Analysis in Distinguishing Cellular Myxoma from Low-Grade Myxofibrosarcoma.
Int J Mol Sci. 2024; 25(10): 5105
Doi: 10.3390/ijms25105105
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- Führende Autor*innen der Med Uni Graz
- Brcic Iva
- Henzinger Hanna
- Co-Autor*innen der Med Uni Graz
- Godschachner Theresa Marie
- Igrec Jasminka
- Liegl-Atzwanger Bernadette
- Scheipl Susanne
- Szkandera Joanna
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- Abstract:
- Cellular myxoma is a benign soft tissue tumor frequently associated with GNAS mutation that may morphologically resemble low-grade myxofibrosarcoma. This study aimed to identify the undescribed methylation profile of cellular myxoma and compare it to myxofibrosarcoma. We performed molecular analysis on twenty cellular myxomas and nine myxofibrosarcomas and analyzed the results using the methylation-based DKFZ sarcoma classifier. A total of 90% of the cellular myxomas had GNAS mutations (four loci had not been previously described). Copy number variations were found in all myxofibrosarcomas but in none of the cellular myxomas. In the classifier, none of the cellular myxomas reached the 0.9 threshold. Unsupervised t-SNE analysis demonstrated that cellular myxomas form their own clusters, distinct from myxofibrosarcomas. Our study shows the diagnostic potential and the limitations of molecular analysis in cases where morphology and immunohistochemistry are not sufficient to distinguish cellular myxoma from myxofibrosarcoma, particularly regarding GNAS wild-type tumors. The DKFZ sarcoma classifier only provided a valid prediction for one myxofibrosarcoma case; this limitation could be improved by training the tool with a more considerable number of cases. Additionally, the classifier should be introduced to a broader spectrum of mesenchymal neoplasms, including benign tumors like cellular myxoma, whose distinct methylation pattern we demonstrated.
- Find related publications in this database (using NLM MeSH Indexing)
- Humans - administration & dosage
- Myxoma - genetics, diagnosis, pathology
- DNA Methylation - administration & dosage
- Fibrosarcoma - genetics, pathology, diagnosis, metabolism
- Middle Aged - administration & dosage
- Female - administration & dosage
- Aged - administration & dosage
- Male - administration & dosage
- Adult - administration & dosage
- DNA Copy Number Variations - administration & dosage
- Mutation - administration & dosage
- Diagnosis, Differential - administration & dosage
- GTP-Binding Protein alpha Subunits, Gs - genetics
- Chromogranins - genetics
- Aged, 80 and over - administration & dosage
- Soft Tissue Neoplasms - genetics, diagnosis, pathology
- Find related publications in this database (Keywords)
- cellular myxoma
- intramuscular myxoma
- myxofibrosarcoma
- methylation analysis
- GNAS mutation