Definition: Low-grade fibromyxoid sarcoma is a rare, benign-appearing soft tissue neoplasm with an aggressive clinical course characterized by multiple local recurrences over several years, with ultimate spread to lung and occasionally to bone.
Low-grade fibromyxoid sarcomas (LGFMS) bear either the t(7,16) (q32-34;p11) or t(11,16) (p11;p11) translocations, resulting in FUS-CREB3L2 or FUS-CREB3L1 fusions, respectively.
Differential diagnosis
fusiform cell tumors (spindle cell tumors)
- desmoid fibromatosis (deep fibromatosis)
- leiomyosarcoma
- myofibrosarcoma
- sclerosing epithelioid fibrosarcoma
- low-grade fibrosarcoma
- classic fibrosarcoma
- inflammatory myxohyaline/myxoinflammatory fibroblastic sarcoma
- nodular fasciitis
Variants
hyalinizing spindle cell tumor with giant rosettes (HSCT)
deep low-grade fibromyxoid sarcoma
superficial low-grade fibromyxoid sarcoma
- sub-cutaneous low-grade fibromyxoid sarcoma
- dermal low-grade fibromyxoid sarcoma
Cytogenetics
Low-grade fibromyxoid sarcomas (LGFMS) bear either the t(7,16) (q32-34;p11) or t(11,16) (p11;p11) translocations, resulting in FUS/CREB3L2 or FUS-CREB3L1 fusions, respectively.
t(7;16)(q33;p11) translocation creating FUS/CREB3L2 fusion gene (12960807) (also found in hyalinizing spindle cell tumor with giant rosettes).
t(11,16)(p11;p11) translocation creating FUS/CREB3L1 fusion gene.
Molecular biology
FUS/CREB3L2 fusion gene (or FUS/BBF2H7) by t(7;16)(q33;p11) (7q33 amd 11p11) (15139001)
References
Guillou L, Benhattar J, Gengler C, Gallagher G, Ranchere-Vince D, Collin F, Terrier P, Terrier-Lacombe MJ, Leroux A, Marques B, Aubain Somerhausen Nde S, Keslair F, Pedeutour F, Coindre JM. Translocation-positive low-grade fibromyxoid sarcoma: clinicopathologic and molecular analysis of a series expanding the morphologic spectrum and suggesting potential relationship to sclerosing epithelioid fibrosarcoma: a study from the French Sarcoma Group. Am J Surg Pathol. 2007 Sep;31(9):1387-402. PMID: 17721195
Mertens F, Fletcher CD, Antonescu CR, Coindre JM, Colecchia M, Domanski HA, Downs-Kelly E, Fisher C, Goldblum JR, Guillou L, Reid R, Rosai J, Sciot R, Mandahl N, Panagopoulos I. Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene. Lab Invest. 2005 Mar;85(3):408-15. PMID: 15640831
Reid R, de Silva MV, Paterson L, Ryan E, Fisher C. Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor with giant rosettes share a common t(7;16)(q34;p11) translocation. Am J Surg Pathol. 2003 Sep;27(9):1229-36. PMID: 12960807
Shidham VB, Ayala GE, Lahaniatis JE, Garcia FU. Low-grade fibromyxoid sarcoma: clinicopathologic case report with review of the literature. Am J Clin Oncol. 1999 Apr;22(2):150-5. PMID: 10199449