Available online 25 April 2023
Author links open overlay panel, ABSTRACTCutaneous (myo)fibroblastic tumors constitute a group of tumors with overlapping clinicopathological features and variable biologic behavior. In the present review we focus on the histomorphology, immunohistochemical profile and molecular background of the following entities: dermatofibrosarcoma protuberans (DFSP), CD34-positive fibroblastic tumor (SCD34FT), myxoinflammatory sarcoma (MIFS), low-grade myofibroblastic sarcoma, solitary fibrous tumor and nodular fasciitis. Although some of these entities typically arise in deep-seated locations, they may occasionally present as cutaneous/superficial tumors and might be challenging to recognize. This review covers in depth the latest advances in molecular diagnostics and immunohistochemical markers that have significantly facilitated the correct classification and diagnosis of these neoplasms.
Section snippetsINTRODUCTIONCutaneous (myo)fibroblastic tumors encompass a wide spectrum of neoplasms with overlapping histopathological characteristics that often constitute a diagnostic challenge. These neoplasms derive from mesenchymal stem cells that normally differentiate into (myo)fibroblasts and thus they are composed of cells that morphologically and immunohistochemically resemble them1,2. Their clinical behavior ranges from benign to locally destructive to overtly malignant and hence, their correct classification
DFSP / Giant cell fibroblastomaDermatofibrosarcoma protuberans is a low grade, locally aggressive tumor with an incidence rate of 0.8 to 4.5 cases per million persons per year5. It is usually encountered in adults between the ages of 20 and 50 years with a male to female ratio of 2:1. It has a predilection for the trunk and the extremities, however up to 15% of cases have been reported to occur in the head and neck region5,6. Although local recurrences are common, metastases to distant sites are rare. DFSP usually presents
Superficial CD34-positive fibroblastic tumor (SCD34FT)Superficial CD34+ fibroblastic tumor (SCD34FT) was first described by Carter et al in 201430. It is a rare, low grade superficial neoplasm with predilection for the lower extremities of adults30. Cases of SCD34FT in unusual locations such as the abdominal wall or the vulva have also been reported in the literature30. Clinically, it usually presents as a painless slow-growing mass. Although it rarely metastasizes regionally, it can be locally aggressive infiltrating the deeper dermis,
Myxoinflammatory Fibroblastic SarcomaMyxoinflammatory fibroblastic sarcoma, first reported by Montgomery et al in 1997, is a rare low-grade sarcoma with a predilection for the distal extremities of adult patients44,45. It usually presents as a small, painless, slow-growing mass in acral locations such as the fingers, wrist, feet, and web spaces but cases in unusual sites including head & neck or back have also been reported46,47. Clinically, it often resembles benign lesions such as ganglion cysts or tenosynovial giant cell tumor.
Low grade myofibroblastic sarcoma (LGMS)Low grade myofibroblastic sarcoma (LGMS) is a very rare tumor, first described by Mentzel et al, which most commonly occurs during the 4th and 5th decade of life with a predilection for the extremities and head & neck65. It usually presents as a painless, slow growing mass in the subcutaneous tissue, perifascial tissues, skeletal muscles or bone. LGMS is prone to local recurrence but rarely metastasizes65,66.
Microscopically, the tumor is usually non-encapsulated and infiltrative composed of
Nodular Fasciitis (NOF)Nodular Fasciitis (NOF) is a benign myofibroblastic neoplasm, which most commonly occurs in the upper extremities, head & neck and trunk100. It is characterized by a proliferative early growth phase with frequent spontaneous regression100. It typically arises in deep locations in association with fascia, but it can also be encountered superficially or rarely, within organ parenchyma such as the parotid gland101,102. Cranial fasciitis, a form of NF seen in infants, develops in the soft tissues
CONCLUSIONOver the recent years, there has been significant progress in the classification and diagnostics of cutaneous (myo)fibroblastic neoplasms. Novel entities, such as SCD34FT, have been described, while the advances in molecular diagnostics led to the identification of genomic rearrangements and other molecular events, deepening our understanding of these fascinating entities. We sincerely hope that our general pathology colleagues will find this review useful to their everyday practice.
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Declaration of Competing InterestThe authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
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