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, NF1, CDKN2B, CDKN2A, and WRN [2].

Most Commonly Altered Genes in Pleomorphic Rhabdomyosarcoma

TP53 c.217-c.1178 Missense, TP53 c.142-c.212 Missense, TP53 c.1-c.137 Missense, TP53 Mutation, and TP53 Missense are the most common alterations in pleomorphic rhabdomyosarcoma [2].

Top Alterations in Pleomorphic Rhabdomyosarcoma

Significant Genes in Pleomorphic Rhabdomyosarcoma

PIK3CA +

PTEN +

Disease Details

Parent(s)
Rhabdomyosarcoma
Children
Childhood Pleomorphic Rhabdomyosarcoma and Adult Pleomorphic Rhabdomyosarcoma
OncoTree Name
Pleomorphic Rhabdomyosarcoma
OncoTree Code
PLRMS

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 4. 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.