It shares some overlapping features with other infiltrate tumors, such as desmoid-type fibromatosis, neurofibroma, and low-grade fibromyxoid sarcoma.
18] Low-grade fibromyxoid sarcoma is more cellular, has alternating fibrous and myxoid zones and characteristic whorled growth pattern.
Moreover, the t(7;16)(q33;p11) translocation resulting in a FUS-CREB3L2 fusion gene characteristic of low-grade fibromyxoid sarcoma has been detected in some SEF cases.
The lesional cells were diffusely positive for MUC4, thus resulting in a diagnosis of low-grade fibromyxoid sarcoma (Figure 9, A through C).
The patient underwent left lower-lobe resection; pathology on a section of the lingula revealed a low-grade fibromyxoid sarcoma
consistent with metastatic disease.
4) To our knowledge, this report presents the first documented case of low-grade fibromyxoid sarcoma
of the vulva.
9) Additionally, a subset is positive for the FUS-CREB3L2 translocation present in low-grade fibromyxoid sarcoma
Perhaps the most interesting aspect pertaining to many of these recently described markers is the method of discovery and the speed at which they have been translated into clinical practice; for example, gene expression profiling studies have identified the protein products TLE1, DOG1, and MUC4 as clinically useful markers for synovial sarcoma, gastrointestinal stromal tumor (GIST), and low-grade fibromyxoid sarcoma
The most commonly used FISH probe set for this morphology was for the FUS gene region (16p11), which is split apart in either a t(7;16) or t(11;16) in low-grade fibromyxoid sarcoma
(15,16) or in the t(12;16) in myxoid liposarcoma.
For deep-seated perineuriomas, the differential diagnosis mainly includes desmoid-type fibromatosis, low-grade fibromyxoid sarcoma
(LGFS), solitary fibrous tumor, low-grade leiomyosarcoma, leiomyoma, and myxo-fibrosarcoma (Table).
It appears that low-grade fibromyxoid sarcoma
is a fibroblastic neoplasm in contrast to hyalinizing spindle cell tumor with giant rosettes whose spindle cells are composed of a mixture of histiocytes and fibroblasts.
Many recently reported diagnostic markers are described in this article, such as (1) signal transducer and activator of transcription 6 (STAT6) as the most sensitive and specific IHC marker for solitary fibrous tumor; (2) loss of antihistone H3 acetyl K27 trimethylation (H3K27) nuclear expression in 50% of malignant peripheral nerve sheath tumors, particularly in high-grade malignant peripheral nerve sheath tumors; (3) mucin 4 (MUC4) expression in low-grade fibromyxoid sarcomas
and sclerosing epithelioid fibrosarcomas; and (4) nuclear expression of calmodulin binding transcription activator 1 (CAMTA1) in epithelioid hemangioendotheliomas.