Myxofibrosarcoma landscape: diagnostic pitfalls, clinical management and future perspectives

Abstract

Myxofibrosarcoma (MFS) is a common entity of adult soft tissue sarcomas (STS) characterized by a predilection of the extremities and a high local recurrence rate. Originally classified as a myxoid variant of malignant fibrous histiocytoma, this musculoskeletal tumor has been recognized since 2002 as a distinct histotype showing a spectrum of malignant fibroblastic lesions with myxoid stroma, pleomorphism and curvilinear vessels. Currently, the molecular pathogenesis of MFS is still poorly understood and its genomic profile exhibits a complex karyotype with a number of aberrations including amplifications, deletions and loss of function. The diagnosis is challenging due to the unavailability of specific immunohistochemical markers and is based on the analysis of cytomorphologic features. The mainstay of treatment for localized disease is represented by surgical resection, with (neo)-adjuvant radio- and chemotherapy. In the metastatic setting, chemotherapy represents the backbone of treatments, however its role is still controversial and the outcome is very poor. Recent advent of genomic profiling, targeted therapies and larger enrollment of patients in translational and clinical studies, have improved the understanding of biological behavior and clinical outcome of such a disease. This review will provide an overview of current diagnostic pitfalls and clinical management of MFS. Finally, a look at future directions will be discussed.

Rare pulmonary embolism in a pregnant patient: A primary diffused pulmonary artery myxofibrosarcoma case report

“…Thus, femoral cannulation is a reasonable choice, fulfilling a direct conversion from CPB to ECMO without re-cannulating. It is suggested that chemotherapy and lung radiotherapy were performed after surgical resection to prevent recurrence, although the role of these methods is still controversial and the outcome is uncertain ( 10 , 11 ).…”

New therapeutics for soft tissue sarcomas: Overview of current immunotherapy and future directions of soft tissue sarcomas

“…Myxofibrosarcoma (MFS) expresses high levels of immune microenvironment markers, and some case reports support PD-1 inhibition in myxofibrosarcoma, which is further explored in a Phase II trial (ENVASARC, NCT04480502) (20)(21)(22)(23).…”

Patient-derived cancer models: Valuable platforms for anticancer drug testing

“…Moreover, some evidence suggests that these models may acquire or select for copy number alterations and single nucleotide variants, or exhibit transcriptional alterations, which can affect the anticancer drug sensitivity (82,83). Organoids and spheroids have emerged as cost-effective alternatives to animal models, with high genomic concordance with primary tumors (81,(84)(85)(86)(87)(88). Multiple factors however, can reduce their resemblance to original cancer tissue or affect their long-term preservation.…”