| Embryonal rhabdomyosarcoma | |
|---|---|
| Specialty | Oncology  |
Embryonal rhabdomyosarcoma (EMRS) is a rare histological form of cancer in the connective tissue wherein the mesenchymally-derived cells (rhabdomyoblasts) resemble the primitive developing skeletal muscle of the embryo. It is the most common soft tissue sarcoma occurring in children.[1] Embryonal rhabdomyosarcoma is also known as PAX-fusion negative or fusion-negative rhabdomyosarcoma, as tumors of this subtype are unified by their lack of a PAX3-FOXO1 fusion oncogene (or other PAX fusions seen in alveolar rhabdomyosarcoma).[2][3] Fusion status refers to the presence or absence of a fusion gene, which is a gene formed from joining two different genes together through DNA rearrangements. These types of tumors are classified as embryonal rhabdomyosarcoma "because of their remarkable resemblance to developing embryonic and fetal skeletal muscle."[4]
- ^ Masola V, Maran C, Tassone E, Zin A, Rosolen A, Onisto M (2009). "Heparanase activity in alveolar and embryonal rhabdomyosarcoma: implications for tumor invasion". BMC Cancer. 9: 304. doi:10.1186/1471-2407-9-304. PMC 2743710. PMID 19715595.
- ^ Shern JF, Chen L, Chmielecki J, Wei JS, Patidar R, Rosenberg M, et al. (2014). "Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors". Cancer Discovery. 4 (2): 216–231. doi:10.1158/2159-8290.CD-13-0639. PMC 4462130. PMID 24436047.
- ^ Yohe ME, Heske CM, Stewart E, Adamson PC, Ahmed N, Antonescu CR, et al. (2019). "Insights into pediatric rhabdomyosarcoma research: Challenges and goals". Pediatric Blood & Cancer. 66 (10): e27869. doi:10.1002/pbc.27869. PMC 6707829. PMID 31222885.
- ^ Kikuchi K, Rubin BP, Keller C (2011). "Developmental origins of fusion-negative rhabdomyosarcomas". Current Topics in Developmental Biology. 96: 33–56. doi:10.1016/B978-0-12-385940-2.00002-4. ISBN 9780123859402. PMC 6250435. PMID 21621066.