TY - JOUR T1 - Cytogenetic and Molecular Study of an Adult Sclerosing Rhabdomyosarcoma of the Extremity: <em>MYOD1</em>-mutation and Clonal Evolution JF - Cancer Genomics - Proteomics JO - Cancer Genomics Proteomics SP - 563 LP - 569 DO - 10.21873/cgp.20212 VL - 17 IS - 5 AU - LUDMILA GORUNOVA AU - BODIL BJERKEHAGEN AU - FRANCESCA MICCI AU - SVERRE HEIM AU - IOANNIS PANAGOPOULOS Y1 - 2020/09/01 UR - http://cgp.iiarjournals.org/content/17/5/563.abstract N2 - Background: Spindle cell/sclerosing rhabdomyosarcoma is a genomically heterogeneous, uncommon subtype of rhabdomyosarcoma, particularly rare in adults. Its MYOD1-mutant variant is aggressive irrespective of age. Cytogenetic data on spindle cell/sclerosing rhabdomyosarcoma are sparse and disparate. Materials and Methods: Cytogenetic and molecular analyses were performed on an adult sclerosing rhabdomyosarcoma. Results: The karyotype of the sclerosing rhabdomyosarcoma displayed clonal evolution corresponding to two hyperdiploid clones: 48,XY,+i(19)(p10),+22/48,idem,der(9)t(2;9)(q21~22;p21). The changes were gain of chromosome 19 with the overrepresentation of 19p arm, gain of chromosome 22, gain of the 2q arm, and loss of 9p21. Mutation analysis revealed a homozygous c.T365G (p.L122R) mutation of the MYOD1 gene, but none of PIK3CA. Conclusion: To our knowledge, this is the first adult MYOD1-mutant sclerosing rhabdomyosarcoma studied cytogenetically. The only other reported sclerosing rhabdomyosarcoma with MYOD1 mutation and abnormal karyotype was pediatric. Since these tumors are highly aggressive, further studies unravelling their cytogenetic and molecular characteristics are warranted. ER -