Embryonal rhabdomyosarcoma

Embryonal rhabdomyosarcoma

Embryonal rhabdomyosarcoma (ERMS) is a cancerous soft tissue tumor.[1] It occurs most frequently in the head, neck and genitourinary tract.[1] Signs and symptoms depend on the location of the tumor; bulging eyes, double vision, sinusitis, scrotal mass or retention of urine.[1] Eyes may be yellow if the tumor involves the biliary tract.[1]

It is a rare histological form of cancer of connective tissue wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo. It is the most common soft tissue sarcoma occurring in children.[2] ERMS is also known as Fusion-Negative rhabdomyosarcoma (FN-RMS), as tumors of this subtype are unified by their lack of a PAX3-FOXO1 fusion oncogene (or other PAX fusions seen in alveolar rhabdomyosarcoma).[3]

Classification

ERMS (or FN-RMS) is the more common of two major sub-types of rhabdomyosarcoma, the other being alveolar rhabdomyosarcoma (ARMS) also known as Fusion Positive RMS (FP-RMS). Commonly, FN-RMS is driven by a mutation in the RAS family of proto-oncogenes, creating a powerful signal which is now known to promote tumor growth by preventing muscle lineage progression by blocking expression of the transcription factor MYOG.[4] Inhibition of this signaling pathway with trametinib has been recently shown to overcome this differentiation block and reduce tumor progression in animal models of FN-RMS.[4]

FN-RMS has been informally classified as a "small round blue cell tumor"[2] because of the characteristic microscopic appearance of its cells after histological staining with hematoxylin and eosin.

Prognosis

The prognosis for rhabdomyosarcoma has improved greatly in recent decades, with over 70% of patients surviving for five years after diagnosis.[5] Nevertheless, some FN-RMS patients with a rare Leu122Arg mutation in MYOD1 gene have a very poor outcome.[6]

References

  1. 1 2 3 4 WHO Classification of Tumours Editorial Board, ed. (2020). "1. Soft tissue tumours: skeletal muscle tumours - embryonal rhabdomyosarcoma". Soft Tissue and Bone Tumours: WHO Classification of Tumours. Vol. 3 (5th ed.). Lyon (France): International Agency for Research on Cancer. pp. 201–204. ISBN 978-92-832-4503-2. Archived from the original on 2021-06-13. Retrieved 2022-06-25.
  2. 1 2 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.
  3. ↑ Shern, Jack F.; Chen, Li; Chmielecki, Juliann; Wei, Jun S.; Patidar, Rajesh; Rosenberg, Mara; Ambrogio, Lauren; Auclair, Daniel; Wang, Jianjun (Jan 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. ISSN 2159-8290. PMC 4462130. PMID 24436047.
  4. 1 2 Yohe, Marielle E.; Gryder, Berkley E.; Shern, Jack F.; Song, Young K.; Chou, Hsien-Chao; Sindiri, Sivasish; Mendoza, Arnulfo; Patidar, Rajesh; Zhang, Xiaohu (2018-07-04). "MEK inhibition induces MYOG and remodels super-enhancers in RAS-driven rhabdomyosarcoma". Science Translational Medicine. 10 (448): eaan4470. doi:10.1126/scitranslmed.aan4470. ISSN 1946-6234. PMID 29973406.
  5. ↑ Breitfeld PP, Meyer WH (August 2005). "Rhabdomyosarcoma: new windows of opportunity". Oncologist. 10 (7): 518–27. doi:10.1634/theoncologist.10-7-518. PMID 16079319.
  6. ↑ Kohsaka, Shinji; Shukla, Neerav; Ameur, Nabahet; Ito, Tatsuo; Ng, Charlotte K Y; Wang, Lu; Lim, Diana; Marchetti, Angela; Viale, Agnes (2014-05-04). "A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations". Nature Genetics. 46 (6): 595–600. doi:10.1038/ng.2969. ISSN 1061-4036. PMC 4231202. PMID 24793135.
Classification
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