Background: The low-grade fibromyxoid sarcoma (LGFMS) is an exceptionally uncommon sarcoma that primarily manifests in the extremities or trunk of young adults, presenting as painless lesions. The histological features of this tumor are benign, but it exhibits an exceptionally high rate of late recurrence and a significant potential for metastasis. Imaging examinations serve as a crucial method for detecting LGFMS, while the definitive diagnosis relies on histopathological assessment. Currently, the primary treatment modality for this neoplasm is surgical resection. Early aggressive surgery with negative margins is a critical factor in mitigating the risk of tumor recurrence and metastasis. The present study presented a case of LGFMS located in the right thigh. The patient underwent a mass resection procedure following an MRI examination. During the telephone follow-up one year post-surgery, despite the absence of an imaging review, the surgical site demonstrated satisfactory recovery with no reported abnormal symptoms. CasePresentation: The patient, a 31-year-old male, presented to our hospital for evaluation of an asymptomatic mass in his right thigh that was incidentally discovered 13 years ago. The MRI showed a well-defined mass measuring 8.2 cm × 6.8 cm × 9.6 cm in the right thigh. The tumor signals exhibit a mixed pattern, characterized by predominantly isointense and hypointense signals on T1-weighted imaging (T1WI), a central area of hyperintensity on T2-weighted imaging (T2WI), and peripheral circular enhancement observed on contrast-enhanced scans. The patient underwent surgical resection. Microscopically, the mass was composed of intricately interwoven fibrous matrix and a distinct mucoid region. The tumor cells exhibited a distinctive arrangement in a swirling or wheel-like pattern, with minimal variation in their karyotypic characteristics. The immunohistochemical examination revealed diffuse and intense MUC4 positivity in the tumor cells. The diagnosis of LGFMS was confirmed by post-operative histopathological examination. Conclusions: The LGFMS is an exceptionally uncommon mesenchymal tumor renowned for its benign histological manifestations and malignant behavior. It is crucial to provide a comprehensive summary of the research findings and thoroughly review the existing literature pertaining to this rare disease.
References
[1]
Evans, H.L. (1987) Low-Grade Fibromyxoid Sarcoma: A Report of Two Metastasizing Neoplasms Having a Deceptively Benign Appearance. American Journal of Clinical Pathology, 88, 615-619. https://doi.org/10.1093/ajcp/88.5.615
[2]
Stacchiotti, S., Frezza, A.M., Blay, J., Baldini, E.H., Bonvalot, S., Bovée, J.V.M.G., et al. (2021) Ultra-Rare Sarcomas: A Consensus Paper from the Connective Tissue Oncology Society Community of Experts on the Incidence Threshold and the List of Entities. Cancer, 127, 2934-2942. https://doi.org/10.1002/cncr.33618
[3]
Mohamed, M., Fisher, C. and Thway, K. (2017) Low-Grade Fibromyxoid Sarcoma: Clinical, Morphologic and Genetic Features. Annals of Diagnostic Pathology, 28, 60-67. https://doi.org/10.1016/j.anndiagpath.2017.04.001
[4]
Maretty-Nielsen, K., Baerentzen, S., Keller, J., Dyrop, H.B. and Safwat, A. (2013) Low-grade Fibromyxoid Sarcoma: Incidence, Treatment Strategy of Metastases, and Clinical Significance of the FUS Gene. Sarcoma, 2013, Article ID: 256280. https://doi.org/10.1155/2013/256280
[5]
Zhang, X., Qiu, Y., Zhang, J., Chen, Z., Yang, Q., Huang, W., et al. (2024) An Elderly Low-Grade Fibromyxoid Sarcoma Patient with Early Postoperative Recurrences and Metastases: A Case Report and Literature Review. Frontiers in Medicine, 11, Article 1172746. https://doi.org/10.3389/fmed.2024.1172746
[6]
Miyake, M., Tateishi, U., Maeda, T., Arai, Y., Seki, K., Hasegawa, T., et al. (2006) CT and MRI Features of Low-Grade Fibromyxoid Sarcoma in the Shoulder of a Pediatric Patient. Radiation Medicine, 24, 511-514. https://doi.org/10.1007/s11604-006-0057-7
[7]
He, X., Jing, W., He, X., Chen, M. and Zhang, H. (2023) Case Report: Primary Pleural Low-Grade Fibromyxoid Sarcoma in a 4-Year-Old Boy with Molecular Confirmation. Frontiers in Oncology, 13, Article 1269078. https://doi.org/10.3389/fonc.2023.1269078
[8]
Billings, S.D., Giblen, G. and Fanburg-Smith, J.C. (2005) Superficial Low-Grade Fibromyxoid Sarcoma (Evans Tumor): A Clinicopathologic Analysis of 19 Cases with a Unique Observation in the Pediatric Population. American Journal of Surgical Pathology, 29, 204-210. https://doi.org/10.1097/01.pas.0000146014.22624.8e
[9]
Ronen, S., Ko, J.S., Rubin, B.P., Kilpatrick, S.E., Wang, W., Lazar, A.J., et al. (2022) Superficial Low-Grade fibromyxoid sarcoma. Journal of Cutaneous Pathology, 50, 147-154. https://doi.org/10.1111/cup.14325
[10]
Naik, V.G., Rai, K.K. and Shivakumar, H.R. (2021) Low-Grade Fibromyxoid Sarcoma. National Journal of Maxillofacial Surgery, 12, 271-275. https://doi.org/10.4103/njms.njms_54_15
[11]
Tally, H., Al-janabi, M.A.H., AlDwairy, H., Al-Shehabi, Z. and Ibrahim, M. (2024) Low-Grade Fibromyxoid Sarcoma in Laryngopharynx: The First Case Report in the Literature. Journal of Surgical Case Reports, 2024, rjae141. https://doi.org/10.1093/jscr/rjae141
[12]
Basiri, A., Montazeri, P. and Dadpour, M. (2023) Penoscrotal Low-Grade Fibromyxoid Sarcoma: A Case Report. Urology Case Reports, 50, Article ID: 102499. https://doi.org/10.1016/j.eucr.2023.102499
[13]
Penafort, P.V.M., de Pauli Paglioni, M., Siqueira, S.A.C., Falzoni, R., de Mendonça, R.M.H., Lopes, M.A., et al. (2022) Low-Grade Fibromyxoid Sarcoma in Labial Mucosa: Report of a Rare Case in a Pediatric Patient. Oral Oncology, 135, Article ID: 106243. https://doi.org/10.1016/j.oraloncology.2022.106243
[14]
Evans, H.L. (2011) Low-Grade Fibromyxoid Sarcoma: A Clinicopathologic Study of 33 Cases with Long-Term Follow-Up. American Journal of Surgical Pathology, 35, 1450-1462. https://doi.org/10.1097/pas.0b013e31822b3687
[15]
Folpe, A.L., Lane, K.L., Paull, G. and Weiss, S.W. (2000) Low-Grade Fibromyxoid Sarcoma and Hyalinizing Spindle Cell Tumor with Giant Rosettes: A Clinicopathologic Study of 73 Cases Supporting Their Identity and Assessing the Impact of High-grade Areas. The American Journal of Surgical Pathology, 24, 1353-1360. https://doi.org/10.1097/00000478-200010000-00004
[16]
Lane, K.L., Shannon, R.J. and Weiss, S.W. (1997) Hyalinizing Spindle Cell Tumor with Giant Rosettes: A Distinctive Tumor Closely Resembling Low-Grade Fibromyxoid Sarcoma. The American Journal of Surgical Pathology, 21, 1481-1488. https://doi.org/10.1097/00000478-199712000-00011
[17]
Zhang, L., Luo, L., Liu, C. and Li, Z. (2024) Novel KMT2B Gene Mutation in MUC4 Positive Low-Grade Fibromyxoid Sarcoma. Diagnostic Pathology, 19, Article No. 30. https://doi.org/10.1186/s13000-024-01458-5
[18]
Ayadi, A., Houcine, Y., Moussa, C., Rouis, H., Abid, T., Hugues, B., et al. (2024) Primary Lung Low-Grade Fibromyxoid Sarcoma: A Rare Case with a Diagnostic Dilemma. Rare Tumors, 16, 1-5. https://doi.org/10.1177/20363613241234201
[19]
Doyle, L.A., Möller, E., Cin, P.D., Fletcher, C.D.M., Mertens, F. and Hornick, J.L. (2011) MUC4 Is a Highly Sensitive and Specific Marker for Low-Grade Fibromyxoid Sarcoma. American Journal of Surgical Pathology, 35, 733-741. https://doi.org/10.1097/pas.0b013e318210c268
[20]
Hassan, U., Saeed, S.M., Mushtaq, S., Hussain, M. and Hameed, M. (2023) The Expression of Mucin-4 (MUC4) in Sarcomas Apart from Sclerosing Epithelioid Fibrosarcoma and Low-Grade Fibromyxoid Sarcoma. Cureus, 15, e49546. https://doi.org/10.7759/cureus.49546
[21]
Doyle, L.A., Wang, W., Dal Cin, P., Lopez-Terrada, D., Mertens, F., Lazar, A.J.F., et al. (2012) MUC4 Is a Sensitive and Extremely Useful Marker for Sclerosing Epithelioid Fibrosarcoma: Association with FUS Gene Rearrangement. American Journal of Surgical Pathology, 36, 1444-1451. https://doi.org/10.1097/pas.0b013e3182562bf8
[22]
Agaimy, A., Stoehr, R., Otto, M., Bräsen, J.H., Pfarr, N., Konukiewitz, B., et al. (2021) Intra-abdominal EWSR1/FUS-CREM-Rearranged Malignant Epithelioid Neoplasms: Two Cases of an Emerging Aggressive Entity with Emphasis on Misleading Immunophenotype. VirchowsArchiv, 480, 481-486. https://doi.org/10.1007/s00428-021-03140-3
[23]
Liu, N., Jiang, Y., Du, J. and Fan, C. (2024) Ossifying Fibromyxoid Tumor of the Soft Tissue in the Left Upper Arm and a Review of the Literature: A Case Report. Experimental and Therapeutic Medicine, 27, Article No. 261. https://doi.org/10.3892/etm.2024.12549
[24]
Gazendam, A.M., Popovic, S., Munir, S., Parasu, N., Wilson, D. and Ghert, M. (2021) Synovial Sarcoma: A Clinical Review. Current Oncology, 28, 1909-1920. https://doi.org/10.3390/curroncol28030177
[25]
Sun, M., Guo, L., You, Y., Qiu, Y., He, X. and Han, X. (2024) Sclerosing Epithelioid Fibrosarcoma of the Pancreas: A Case Report. World Journal of Clinical Cases, 12, 5983-5989. https://doi.org/10.12998/wjcc.v12.i26.5983
[26]
Giani, C., Denu, R.A., Ljevar, S., Gronchi, A., Napolitano, A., Rosenbaum, E., et al. (2024) Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma, Outcome of Advanced Disease: Retrospective Study from the Ultra-Rare Sarcoma Working Group. ESMO Open, 9, Article ID: 103689. https://doi.org/10.1016/j.esmoop.2024.103689
[27]
Guillou, L., Benhattar, J., Gengler, C., Gallagher, G., Ranchère-Vince, D., Collin, F., et al. (2007) 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. American Journal of Surgical Pathology, 31, 1387-1402. https://doi.org/10.1097/pas.0b013e3180321959
[28]
Mertens, F., Fletcher, C.D.M., Antonescu, C.R., Coindre, J., Colecchia, M., Domanski, H.A., et al. (2005) Clinicopathologic and Molecular Genetic Characterization of Low-Grade Fibromyxoid Sarcoma, and Cloning of a Novel FUS/CREB3L1 Fusion Gene. Laboratory Investigation, 85, 408-415. https://doi.org/10.1038/labinvest.3700230
[29]
Doyle, L.A., Vivero, M., Fletcher, C.D., Mertens, F. and Hornick, J.L. (2014) Nuclear Expression of STAT6 Distinguishes Solitary Fibrous Tumor from Histologic Mimics. Modern Pathology, 27, 390-395. https://doi.org/10.1038/modpathol.2013.164
[30]
Hwang, S., Kelliher, E. and Hameed, M. (2012) Imaging Features of Low-Grade Fibromyxoid Sarcoma (Evans Tumor). Skeletal Radiology, 41, 1263-1272. https://doi.org/10.1007/s00256-012-1417-2
[31]
Sargar, K., Kao, S.C., Spunt, S.L., Hawkins, D.S., Parham, D.M., Coffin, C., et al. (2015) MRI and CT of Low-Grade Fibromyxoid Sarcoma in Children: A Report from Children’s Oncology Group Study ARST0332. American Journal of Roentgenology, 205, 414-420. https://doi.org/10.2214/ajr.14.13972
[32]
Yue, Y., Liu, Y., Song, L., Chen, X., Wang, Y. and Wang, Z. (2018) MRI Findings of Low-Grade Fibromyxoid Sarcoma: A Case Report and Literature Review. BMC Musculoskeletal Disorders, 19, Article No. 65. https://doi.org/10.1186/s12891-018-1976-z
[33]
Waters, B., Panicek, D.M., Lefkowitz, R.A., Antonescu, C.R., Healey, J.H., Athanasian, E.A., et al. (2007) Low-Grade Myxofibrosarcoma: CT and MRI Patterns in Recurrent Disease. American Journal of Roentgenology, 188, W193-W198. https://doi.org/10.2214/ajr.05.1130
[34]
Spinnato, P., Clinca, R., Vara, G., Cesari, M., Ponti, F., Facchini, G., et al. (2021) MRI Features as Prognostic Factors in Myxofibrosarcoma: Proposal of MRI Grading System. Academic Radiology, 28, 1524-1529. https://doi.org/10.1016/j.acra.2020.08.018
[35]
Mujtaba, B., Wang, F., Taher, A., Aslam, R., Madewell, J.E. and Nassar, S. (2021) Myxoid Liposarcoma with Skeletal Metastases: Pathophysiology and Imaging Characteristics. Current Problems in Diagnostic Radiology, 50, 66-73. https://doi.org/10.1067/j.cpradiol.2019.10.008
[36]
Qu, G., Zhang, C., Tian, Z. and Yao, W. (2024) Diagnosis and Treatment of Myxoid Liposarcoma. Current Treatment Options in Oncology, 25, 1289-1296. https://doi.org/10.1007/s11864-024-01262-9
[37]
da Costa, M.D.S., Hoshino, K., Stavale, J.N., Lanzoni, O.P., Cavalheiro, S. and Paiva Neto, M.A. (2017) Unusual Intracerebral Presentation of a Myxoid Neurofibroma. World Neurosurgery, 100, 713.e5-713.e8. https://doi.org/10.1016/j.wneu.2017.01.013
[38]
Yoshimura, R., Nishiya, M., Yanagawa, N., Deguchi, H., Tomoyasu, M., Kudo, S., et al. (2021) Low-Grade Fibromyxoid Sarcoma Arising from the Lung: A Case Report. Thoracic Cancer, 12, 2517-2520. https://doi.org/10.1111/1759-7714.14107
[39]
Möller, E., Hornick, J.L., Magnusson, L., Veerla, S., Domanski, H.A. and Mertens, F. (2011) FUS-CREB3L2/L1-Positive Sarcomas Show a Specific Gene Expression Profile with Upregulation of CD24 and FOXL1. Clinical Cancer Research, 17, 2646-2656. https://doi.org/10.1158/1078-0432.ccr-11-0145
[40]
Lau, P.P.L., Lui, P.C.W., Lau, G.T.C., Yau, D.T.W., Cheung, E.T.Y. and Chan, J.K.C. (2013) EWSR1-CREB3L1 Gene Fusion: A Novel Alternative Molecular Aberration of Low-Grade Fibromyxoid Sarcoma. American Journal of Surgical Pathology, 37, 734-738. https://doi.org/10.1097/pas.0b013e31827560f8
[41]
Scheer, M., Vokuhl, C., Veit-Friedrich, I., Münter, M., von Kalle, T., Greulich, M., et al. (2019) Low-Grade Fibromyxoid Sarcoma: A Report of the Cooperative Weichteilsarkom Studiengruppe (CWS). Pediatric Blood & Cancer, 67, e28009. https://doi.org/10.1002/pbc.28009
[42]
Blay, J., Tlemsani, C., Toulmonde, M., Italiano, A., Rios, M., Bompas, E., et al. (2024) Sclerosing Epithelioid Fibrosarcoma (SEF) versus Low Grade Fibromyxoid Sarcoma (LGFMS): Presentation and Outcome in the Nationwide NETSARC+ Series of 330 Patients over 13 Years. European Journal of Cancer, 196, Article ID: 113454. https://doi.org/10.1016/j.ejca.2023.113454
[43]
Giani, C., Salawu, A., Ljevar, S., Denu, R.A., Napolitano, A., Palmerini, E., et al. (2024) International Multicenter Retrospective Study from the Ultra-Rare Sarcoma Working Group on Low-Grade Fibromyxoid Sarcoma, Sclerosing Epithelioid Fibrosarcoma, and Hybrid Forms. American Journal of Surgical Pathology, 49, 27-34. https://doi.org/10.1097/pas.0000000000002330
