Associated Genetic Biomarkers

Overview

NCI Definition: A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. [1]

Rhabdomyosarcomas most frequently harbor alterations in TP53, NF1, NRAS, MDM2, and CDKN2A [2].

Most Commonly Altered Genes in Rhabdomyosarcoma

TP53 Mutation, TP53 c.217-c.1178 Missense, TP53 Missense, NRAS Mutation, and NRAS Exon 3 Mutation are the most common alterations in rhabdomyosarcoma [2].

Top Alterations in Rhabdomyosarcoma

Significant Genes in Rhabdomyosarcoma

ABL1 +

AFF1 +

ATM +

ATR +

AXL +

BARD1 +

BCR +

BRCA1 +

BRCA2 +

BRIP1 +

CHEK1 +

CHEK2 +

DEK +

EGFR +

ELL +

ERBB2 +

ERBB4 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

FLT3 +

FOXO1 +

KMT2A +

MCPH1 +

MECOM +

MET +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MRE11A +

NBN +

NUP214 +

PALB2 +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RET +

RPN1 +

SLX4 +

TP53 +

Disease Details

Synonyms
Rhabdomyosarcoma, NOS, PEDIATRIC Soft tissue rhabdomyosarcoma (NOS), Soft tissue rhabdomyosarcoma (NOS), RHABDOMYOSARCOMA, MALIGNANT
Parent(s)
Soft Tissue Sarcoma
Children
Central Nervous System Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma, Anal Rhabdomyosarcoma, Prostate Rhabdomyosarcoma, Liver Rhabdomyosarcoma, Breast Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma, Cervical Rhabdomyosarcoma, Gallbladder Rhabdomyosarcoma, Ovarian Rhabdomyosarcoma, Rectal Rhabdomyosarcoma, Pleomorphic Rhabdomyosarcoma, Bile Duct Rhabdomyosarcoma, Spindle Cell/Sclerosing Rhabdomyosarcoma, Mediastinal Rhabdomyosarcoma, and Orbit Rhabdomyosarcoma
OncoTree Name
Rhabdomyosarcoma
OncoTree Code
RMS

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 6. 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.