Subtype and Prognostic Classification of Rhabdomyosarcoma by Immunohistochemistry

Abstract

The presented set of marker proteins detects RMS subgroups with high specificity and may be useful in routine subtype classification of RMS.

Comparative expression profiling identifies an in vivo target gene signature with TFAP2B as a mediator of the survival function of PAX3/FKHR

“…Since PAX3/FKHR is also involved in regulation of cell survival, TFAP2B was confirmed at the molecular level as a direct target of PAX3/FKHR. The use of PAX3/ FKHR mutants with impaired DNA-binding activity demonstrated paired domain dependency of TFAP2B Further supporting the notion that TFAP2B is a physiologically relevant in vivo target gene comes from the recent observation that TFAP2B is a highly specific and sensitive marker for translocation-positive aRMS in immunohistochemical analysis (Wachtel et al, 2006). This study directly confirms in vivo expression of the TFAP2B protein in a large number of tumor samples.…”

Activation of the hedgehog pathway confers a poor prognosis in embryonal and fusion gene-negative alveolar rhabdomyosarcoma

“…Previously, MyoD1 has been reported to distinguish undifferentiated embryonal sarcoma of the liver from biliary tract RMS (Nicol et al, 2007). Together with gene expression signatures and histology (Davicioni et al, 2006(Davicioni et al, , 2009Wachtel et al, 2006), class predictors may add to the molecular classification and diagnosis of RMS. Future clinical correlative studies are warranted to evaluate the relevance of these genes in class prediction.…”

Non-coding RNAs in muscle differentiation and musculoskeletal disease

“…It controls satellite cell activation by repressing the synthesis of the myogenic determination factor MYF5 (40) and regulates fiber maturation by targeting several terminal differentiation proteins, including dystrophin (41). In exon skipping-treated human DMD myoblasts, miR-31 inhibition increased dystrophin rescue, indicating that interfering miR-1 and miR-206 are both repressed in rhabdomyosarcoma (RMS), the most common pediatric soft tissue sarcoma (32,33). RMS is also characterized by the overexpression of early myogenic markers including desmin, myogenin, and myogenic differentiation-1 (MyoD) (33), which are trapped in a nonfunctional state, thereby inhibiting terminal differentiation of myogenic progenitor cells (34).…”