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Abstract
The results of molecular genetic studies have brought us closer to understanding the pathogenesis of rhabdomyosarcoma (RMS), and their incorporation into standard testing has established new diagnostic criteria for RMS. In addition to its important role in diagnosis, genetic testing has become necessary to select the intensity of therapy and assess the prognosis of patients with RMS. The most important diagnostic study is the determination of PAX3/7::FOXO1 fusion genes - markers of alveolar RMS (ARMS) and predictors of poor prognosis, which has become widely used for RMS classification and provides the basis for stratifying patients into a high-risk group. ARMS without identified rearrangements involving the PAX3/7 or FOXO1 genes (including those with non-standard partner genes) is currently considered to be a prognostically favourable type of RMS that shares biological similarities with embryonal RMS (ERMS). The standard diagnosis of these tumours currently includes morphological, immunohistochemical and molecular studies. In many cases, routine hematoxylin and eosin staining and desmin, MyoD1 and myogenin expression patterns are sufficient to both confirm the diagnosis and determine the histological type. Simultaneously, only the determination of the PAX3/7::FOXO1 chimeric proteins allows the unambiguous identification of ARMS, especially in cases with solid histological variant. The histologically homogeneous group of spindle cell/sclerosing RMS (SCRMS) is characterized by very high biological and clinical heterogeneity due to a large number of pathogenic and prognostically significant genetic variants. Molecular genetic techniques are leading the way in the differential diagnosis of SCRMS.
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