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Associated Genetic Biomarkers
NCI Definition: An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. 
Pleomorphic rhabdomyosarcomas most frequently harbor alterations in TP53, RB1, NF1, PTEN, and DNMT3A .
TP53 c.217-c.1178 Missense, TP53 Mutation, TP53 Missense, RB1 Loss, and CREBBP Mutation are the most common alterations in pleomorphic rhabdomyosarcoma .
There are 2 clinical trials for pleomorphic rhabdomyosarcoma, of which 2 are open and 0 are completed or closed. Of the trials that contain pleomorphic rhabdomyosarcoma as an inclusion criterion, 1 is phase 1 (1 open) and 1 is phase 2 (1 open).
PIK3CA, PTEN, and RB1 are the most frequent gene inclusion criteria for pleomorphic rhabdomyosarcoma clinical trials .
Doxorubicin, ribociclib, and sapanisertib are the most common interventions in pleomorphic rhabdomyosarcoma clinical trials.
Significant Genes in Pleomorphic Rhabdomyosarcoma
PIK3CA is an inclusion eligibility criterion in 1 clinical trial for pleomorphic rhabdomyosarcoma, of which 1 is open and 0 are closed. Of the trial that contains PIK3CA status and pleomorphic rhabdomyosarcoma as inclusion criteria, 1 is phase 2 (1 open) .
PTEN is altered in 16.67% of pleomorphic rhabdomyosarcoma patients .
PTEN is an inclusion eligibility criterion in 1 clinical trial for pleomorphic rhabdomyosarcoma, of which 1 is open and 0 are closed. Of the trial that contains PTEN status and pleomorphic rhabdomyosarcoma as inclusion criteria, 1 is phase 2 (1 open) .
1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.