Low-Grade Fibromyxoid Sarcoma Featuring an Unusual EWSR1-CREB3L2 Gene Fusion: Report of a Rare Case Arising in the Parotid Gland

Abstract

Low-grade fibromyxoid sarcoma (LGFMS), also known as Evan's tumor, is a fibroblastic tumor with a deceptively bland morphology but a high metastasizing potential and late recurrence. It presents clinically as a slowly growing mass in the deep soft tissue of extremities and trunk. Morphologically, it shows a biphasic pattern with alternating fibrous and myxoid areas, whorling growth pattern, hypocellularity, and bland fibroblasts with curvilinear or arcuate vessels in between. Collagen rosettes with central hyalinization is a helpful feature but not specific. MUC-4 is the most sensitive immunostain in LGFMS. The majority of cases harbor a gene fusion in FUS-CREB3L2. Herein, we present a 23-year-old female patient with a slow growing painless mass in the left parotid gland, which was later diagnosed as LGFMS. Involvement of the head and neck region by LGFMS is uncommonly encountered. To date, only two cases within the parotid gland have been described.

Keywords

low-grade fibromyxoid sarcoma - Evan's tumor - parotid gland - MUC-4

Availability of Data and Material

All data regarding this case is available at our department as actual slides or digitally as photos and soft copies.

Consent for Publication

All authors read and approved the manuscript.

Ethical Approval

All study procedures were performed in accordance with the Declarations of Helsinki, 1964.

Publikationsverlauf

Artikel online veröffentlicht:
21. Juni 2022

• References

• 1 Yadav J, Bakshi J, Chouhan M, Modi R. Head and neck leiomyosarcoma. Indian J Otolaryngol Head Neck Surg 2013; 65 (Suppl. 01) 1-5
• 2 Evans HL. Low-grade fibromyxoid sarcoma. A report of two metastasizing neoplasms having a deceptively benign appearance. Am J Clin Pathol 1987; 88 (05) 615-619
• 3 Evans HL. Low-grade fibromyxoid sarcoma: a clinicopathologic study of 33 cases with long-term follow-up. Am J Surg Pathol 2011; 35 (10) 1450-1462
• 4 Cowan ML, Thompson LD, Leon ME, Bishop JA. Low-grade fibromyxoid sarcoma of the head and neck: a clinicopathologic series and review of the literature. Head Neck Pathol 2016; 10 (02) 161-166
• 5 Botev B, Casale M, Vincenzi B. et al. A giant sarcoma of the parotid gland: a case report and review of the literature. In Vivo 2006; 20 (6B): 907-910
• 6 Lee EJ, Hwang HJ, Byeon HK. et al. Low grade fibromyxoid sarcoma of the parotid: case report. J Med Case Reports 2015; 9: 176
• 7 WHO. Classification of Bone and Soft Tissue Tumors, 5th Ed. 3. 127-129
• 8 Lane KL, Shannon RJ, Weiss SW. Hyalinizing spindle cell tumor with giant rosettes: a distinctive tumor closely resembling low-grade fibromyxoid sarcoma. Am J Surg Pathol 1997; 21 (12) 1481-1488
• 9 Billings SD, Giblen G, Fanburg-Smith JC. Superficial low-grade fibromyxoid sarcoma (Evans tumor): a clinicopathologic analysis of 19 cases with a unique observation in the pediatric population. Am J Surg Pathol 2005; 29 (02) 204-210
• 10 Tang Z, Zhou ZH, Lv CT. et al. Low-grade fibromyxoid sarcoma: clinical study and case report. J Oral Maxillofac Surg 2010; 68 (04) 873-884
• 11 Papadimitriou JC, Ord RA, Drachenberg CB. Head and neck fibromyxoid sarcoma: clinicopathological correlation with emphasis on peculiar ultrastructural features related to collagen processing. Ultrastruct Pathol 1997; 21 (01) 81-87
• 12 Wu X, Petrovic V, Torode IP, Chow CW. Low grade fibromyxoid sarcoma: problems in the diagnosis and management of a malignant tumour with bland histological appearance. Pathology 2009; 41 (02) 155-160
• 13 Abe Y, Hashimoto I, Nakanishi H. Recurring facial low-grade fibromyxoid sarcoma in an elderly patient: a case report. J Med Invest 2012; 59 (3-4): 266-269
• 14 He KF, Jia J, Zhao YF. Low-grade fibromyxoid sarcoma with cystic appearance and osseous metaplasia in the cheek: a case report and review of the literature. J Oral Maxillofac Surg 2013; 71 (06) 1143-1150
• 15 Chaudhuri K, Kasimsetty CR, Lingappa A, Gujjar PV. Low-grade fibromyxoid sarcoma involving the mandible: a diagnostic dilemma. J Oral Maxillofac Pathol 2016; 20 (02) 334
• 16 Rao R, Honavar SG, Mulay K, Reddy VAP. Primary orbital low-grade fibromyxoid sarcoma - a case report. Indian J Ophthalmol 2019; 67 (04) 568-570
• 17 Toroa C, Costa P, Vecchio GM, Magro G. Low-grade fibromyxoid sarcoma of the parapharyngeal space: a case report and review of the literature. Oral Maxillofac Surg Cases 2020
• 18 Rekhi B, Deshmukh M, Jambhekar NA. Low-grade fibromyxoid sarcoma: a clinicopathologic study of 18 cases, including histopathologic relationship with sclerosing epithelioid fibrosarcoma in a subset of cases. Ann Diagn Pathol 2011; 15 (05) 303-311
• 19 Viswanathan S, Rahman K, Pallavi S. et al. Sarcomatoid (spindle cell) carcinoma of the head and neck mucosal region: a clinicopathologic review of 103 cases from a tertiary referral cancer centre. Head Neck Pathol 2010; 4 (04) 265-275
• 20 Merchant SH. Low grade fibromyxoid sarcoma: report of a case with epithelioid cell morphology, masquerading as a papillary thyroid carcinoma. Acta Cytol 2009; 53 (06) 689-692
• 21 Guillou L, Benhattar J, Gengler C. et al. 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; 31 (09) 1387-1402
• 22 Prieto-Granada C, Zhang L, Chen HW. et al. A genetic dichotomy between pure sclerosing epithelioid fibrosarcoma (SEF) and hybrid SEF/low-grade fibromyxoid sarcoma: a pathologic and molecular study of 18 cases. Genes Chromosomes Cancer 2015; 54 (01) 28-38
• 23 Mohamed M, Fisher C, Thway K. Low-grade fibromyxoid sarcoma: Clinical, morphologic and genetic features. Ann Diagn Pathol 2017; 28: 60-67
• 24 Mertens F, Fletcher CD, Antonescu CR. et al. Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene. Lab Invest 2005; 85 (03) 408-415