Round cell sarcoma with FUS-NFATC2 gene fusion

MedGen UID:: 1791495
•Concept ID:: C5555054
•: Neoplastic Process

Synonyms:	FUS-NFATC2 Sarcoma; FUS::NFATC2 Sarcoma; Round Cell Sarcoma with FUS-NFATC2 Gene Fusion; round cell sarcoma with FUS-NFATC2 gene fusion; Round Cell Sarcoma with FUS::NFATC2 Gene Fusion

Monarch Initiative:	MONDO:0958301

Definition

A group of rare round and spindle cell sarcomas characterized by the presence of FUS-NFATC2 gene fusion. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRound cell sarcoma with FUS-NFATC2 gene fusion

Disorder by Site
- Connective and Soft Tissue Disorder
  - Connective and soft tissue neoplasm
    - Connective tissue neoplasm
      - Small cell sarcoma
        Round cell sarcoma with EWSR1-non-ETS fusion
        Round cell sarcoma with FUS-NFATC2 gene fusion

Recent clinical studies

Etiology

The clinical heterogeneity of round cell sarcomas with EWSR1/FUS gene fusions: Impact of gene fusion type on clinical features and outcome.

Tsuda Y, Zhang L, Meyers P, Tap WD, Healey JH, Antonescu CR
Genes Chromosomes Cancer 2020 Sep;59(9):525-534. Epub 2020 May 28 doi: 10.1002/gcc.22857. PMID: 32362012 Free PMC Article

Transcriptomic definition of molecular subgroups of small round cell sarcomas.

Watson S, Perrin V, Guillemot D, Reynaud S, Coindre JM, Karanian M, Guinebretière JM, Freneaux P, Le Loarer F, Bouvet M, Galmiche-Rolland L, Larousserie F, Longchampt E, Ranchere-Vince D, Pierron G, Delattre O, Tirode F
J Pathol 2018 May;245(1):29-40. Epub 2018 Mar 30 doi: 10.1002/path.5053. PMID: 29431183

See all (2)

Diagnosis

Expanding the Spectrum of EWSR1-NFATC2-rearranged Benign Tumors: A Common Genomic Abnormality in Vascular Malformation/Hemangioma and Simple Bone Cyst.

Ong SLM, Lam SW, van den Akker BEWM, Kroon HM, Briaire-de Bruijn IH, Cleven AHG, Savci-Heijink DC, Cleton-Jansen AM, Baumhoer D, Szuhai K, Bovée JVMG
Am J Surg Pathol 2021 Dec 1;45(12):1669-1681. doi: 10.1097/PAS.0000000000001748. PMID: 34081036 Free PMC Article

Identification of EWSR1-NFATC2 fusion in simple bone cysts.

Hung YP, Fisch AS, Diaz-Perez JA, Iafrate AJ, Lennerz JK, Nardi V, Bredella MA, Raskin KA, Lozano-Calderon SA, Rosenberg AE, Nielsen GP
Histopathology 2021 May;78(6):849-856. Epub 2021 Mar 16 doi: 10.1111/his.14314. PMID: 33316098

The clinical heterogeneity of round cell sarcomas with EWSR1/FUS gene fusions: Impact of gene fusion type on clinical features and outcome.

Tsuda Y, Zhang L, Meyers P, Tap WD, Healey JH, Antonescu CR
Genes Chromosomes Cancer 2020 Sep;59(9):525-534. Epub 2020 May 28 doi: 10.1002/gcc.22857. PMID: 32362012 Free PMC Article

NFATc2-rearranged sarcomas: clinicopathologic, molecular, and cytogenetic study of 7 cases with evidence of AGGRECAN as a novel diagnostic marker.

Perret R, Escuriol J, Velasco V, Mayeur L, Soubeyran I, Delfour C, Aubert S, Polivka M, Karanian M, Meurgey A, Le Guellec S, Weingertner N, Hoeller S, Coindre JM, Larousserie F, Pierron G, Tirode F, Le Loarer F
Mod Pathol 2020 Oct;33(10):1930-1944. Epub 2020 Apr 23 doi: 10.1038/s41379-020-0542-z. PMID: 32327700

EWSR1/FUS-NFATc2 rearranged round cell sarcoma: clinicopathological series of 4 cases and literature review.

Diaz-Perez JA, Nielsen GP, Antonescu C, Taylor MS, Lozano-Calderon SA, Rosenberg AE
Hum Pathol 2019 Aug;90:45-53. Epub 2019 May 9 doi: 10.1016/j.humpath.2019.05.001. PMID: 31078563 Free PMC Article

See all (5)