Diseases /
Pleomorphic Rhabdomyosarcoma
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Associated Genetic Biomarkers
Overview
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. [1]
Pleomorphic rhabdomyosarcomas most frequently harbor alterations in TP53, RB1, NF1, PTEN, and DNMT3A [2].
TP53 c.217-c.1178 Missense, TP53 Mutation, TP53 Missense, RB1 Loss, and CREBBP Mutation are the most common alterations in pleomorphic rhabdomyosarcoma [2].
Clinical Trials
Significant Genes in Pleomorphic Rhabdomyosarcoma
Disease Details
References
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.
