Based on the morphology and immunophenotype, molecular studies were performed, which revealed a FUS::TFCP2 fusion transcript, confirming the diagnosis of Rhabdomyosarcoma with FUS::TFCP2 fusion. Making a correct diagnosis is primarily dependent on awareness by the pathologist...
FUS-TFCP2 and EWSR1-TFCP2 consisted of the first 254 and 138 N-terminal amino acids (aa) of FUS and EWSR1, respectively, and 460 aa of the TFCP2 protein. This corresponded to the fusion of the transcriptional activation domain and part of the first RGG1 domain of FUS or part of ...
Diagnostic and Therapeutic Implications of a FUS::TFCP2 Fusion and ALK Activation in a Metastatic Rhabdomyosarcomadoi:10.1002/gcc.23259Csizmok, VeronikaGrisdale, CameronJ.Williamson, LauraM.Lim, HowardJ.Lee, LawrenceRenouf, DanielJ.Jones, StevenJ.M....
TFCP2EWSR1-TFCP2FUS-TFCP2BoneThe WHO Classification of Tumors of Soft Tissue and Bone divides rhabdomyosarcoma (RMS) into alveolar, embryonal, pleomorphic, and spindle cell/sclerosing types. Advances in molecular diagnostics have allowed for further refinement of RMS classification including the ...
The characteristic features of an FET-TFCP2 fusion rhabdomyosarcoma were present, including strong pancytokeratin expression. This uncommon and aggressive entity displays a predilection for head and neck sites and familiarity may help avoid diagnostic pitfalls....
Here, we present a case of cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 35-year-old female. Notably, the tumor exhibited a pathologic spectrum, initially resembling sclerosing dermatitis at presentation but progressing into a high-grade malignant tumor within 8 months. The distinctive ...
Organization into four major subtypes.1 Recently, a subgroup of highly aggressive intraosseous RMS demonstrated new fusion transcripts, involving a FET-family gene with TFCP2.2 Very few cases have been reported in the literature and all demonstrated a poor prognosis.2-7 There is no standard ...