Ossifying Fibromyxoid Tumor of Soft Parts

Graham, Rondell P.; Dry, Sarah M.; Li, Xinmin; Binder, Scott W.; Bahrami, Armita; Raimondi, Susana C.; Doğan, Ahmet; Chakraborty, Subhankar; Souchek, Joshua J.; Folpe, Andrew L.

doi:10.1097/pas.0b013e3182284a3f

Cited by 115 publications

(55 citation statements)

References 34 publications

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“…This could also be suspected based on the fact that many investigators have included keratin-positive cases under this diagnosis. 23 Because malignant myoepithelioma is often Sox10-negative, the use of other myoepithelial markers, such as keratins, GFAP, p63, SMA, and calponin, is necessary in proper identification. These markers can also be useful in separating spindled myoepitheliomas and nerve sheath tumors, although some entities have overlapping expression patterns for some of these markers.…”

Section: Discussionmentioning

confidence: 99%

Sox10—A Marker for Not Only Schwannian and Melanocytic Neoplasms But Also Myoepithelial Cell Tumors of Soft Tissue

Miettinen

McCue

Sarlomo-Rikala

et al. 2015

American Journal of Surgical Pathology

253

198

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Sox10 transcription factor is expressed in Schwannian and melanocytic lineages and is important in their development and can be used as a marker for corresponding tumors. Additionally, it has been reported in subsets of myoepithelial/basal cell epithelial neoplasms, but its expression remains incompletely characterized. In this study, we examined Sox10 express-ion in 5134 human neoplasms spanning a wide spectrum of neuroectodermal, mesenchymal, lymphoid, and epithelial tumors. A new rabbit monoclonal antibody (clone EP268) and Leica Bond Max automation were used on multitumor block libraries containing 30–70 cases per slide. Sox10 was consistently expressed in benign Schwann cell tumors of soft tissue and the GI-tract and metastatic melanoma, and was variably present in malignant peripheral nerve sheath tumors. In contrast, Sox10 was absent in many potential mimics of nerve sheath tumors such as cellular neurothekeoma, meningioma, gastrointestinal stromal tumors, PEComa, and a variety of fibroblastic-myofibroblastic tumors. Sox10 was virtually absent in mesenchymal tumors but occasionally seen in alveolar rhabdomyosarcoma. In epithelial tumors of soft tissue, Sox10 was expressed only in myoepitheliomas, although often absent in malignant variants. Carcinomas, other than basal cell type breast cancers, were only rarely positive but included rare squamous carcinomas of head and neck and pulmonary small cell carcinomas. Furthermore, Sox10 was often focally expressed in embryonal carcinoma reflecting a primitive Sox10-positive phenotype or neuroectodermal differentiation. Expression of Sox10 in entrapped non-neoplastic Schwann cells or melanocytes in various neoplasms has to be considered in diagnosing Sox10-positive tumors. The Sox10 antibody belongs in a modern immunohistochemical panel for the diagnosis of soft tissue and epithelial tumors.

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Section: Discussionmentioning

confidence: 99%

Sox10—A Marker for Not Only Schwannian and Melanocytic Neoplasms But Also Myoepithelial Cell Tumors of Soft Tissue

Miettinen

McCue

Sarlomo-Rikala

et al. 2015

American Journal of Surgical Pathology

253

198

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“…In 2003, Folpe and Weiss (2) proposed that OFMT may be classified as typical, atypical or malignant on the basis of its cellularity, nuclear grade and mitotic activity. More recently, Graham et al (4) confirmed the existence of malignant OFMT using immunohistochemistry and gene expression profiling. In view of the low to moderate cellularity, low nuclear grade, low mitotic activity and the absence of necrosis or vascular space invasion, our case was regarded as a typical OFMT.…”

Section: Discussionmentioning

confidence: 98%

“…The majority of OFMTs are clinically and histopathologically benign; however, it has been noted that a subset of OFMTs have atypical histopathological features and exhibit correspondingly more aggressive clinical behavior (2,4,6). In 2003, Folpe and Weiss (2) proposed that OFMT may be classified as typical, atypical or malignant on the basis of its cellularity, nuclear grade and mitotic activity.…”

Section: Discussionmentioning

confidence: 99%

“…OFMT predominantly arises in the subcutaneous tissue of extremities, and the median age of OFMT patients is ∼50 years (2–4). Clinically, the tumor often presents as a small, slow-growing, painless, well-defined mass that displays a peripheral incomplete ring of ossification on radiography.…”

Section: Introductionmentioning

confidence: 99%

“…The biological behavior of this tumor varies. Recently, Graham et al (4) demonstrated that histopathologically malignant OFMTs exist. OFMT may be mistaken for a number of benign and malignant conditions, including myositis ossificans, ossifying hematoma, tumoral calcinosis, extraskeletal chondroma, low-grade fibromyxoid sarcoma, synovial sarcoma and extraskeletal or parosteal osteosarcoma (5).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Imaging findings of ossifying fibromyxoid tumor with histopathological correlation: A case report

Ideta¹,

Nishio²,

Aoki³

et al. 2013

Oncology Letters

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Ossifying fibromyxoid tumor (OFMT) is a soft tissue tumor of uncertain lineage that most often arises in the extremities of adults. Imaging findings of this uncommon tumor are rare. We, herein, present a case of OFMT occurring in the left thigh of a 36-year-old male. Radiological examinations revealed a well-circumscribed subcutaneous mass with an incomplete shell of peripheral ossification, suggesting a benign condition. Following complete excision, the mass was histopathologically diagnosed as an OFMT. The patient demonstrated no evidence of local recurrence within 11 months of follow-up. We describe the clinicopathological and radiological features, and review the relevant literature.

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Molecular Genetics of Schwannomatosis

Hulsebos

2017

Encyclopedia of Life Sciences

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Schwannomatosis is characterised by the development of multiple schwannomas, and in some cases meningiomas, but without the involvement of bilateral vestibular schwannomas, the latter being the hallmark of neurofibromatosis type 2 (NF2). Severe pain is the most important clinical symptom in patients. Germ line mutations in SMARCB1 or LZTR1 on chromosome 22 predispose to the development of schwannomas in schwannomatosis. These genes explain 86% of the familial but only 40% of the sporadic cases. Independent somatic mutations in NF2 , which is also on chromosome 22, are found in the schwannomas of patients, but not in their germ line. Most mutations in SMARCB1 are hypomorphic mutations, giving rise to a SMARCB1 protein with modified activity. Many mutations in LZTR1 are loss‐of‐function mutations, resulting in the absence of LZTR1 protein. Unilateral vestibular schwannomas may occur in LZTR1 ‐associated schwannomatosis. Overlap exists of the clinical symptoms of schwannomatosis and mosaic NF2. Comprehensive testing of the genes involved in blood and tumours of the patient may help in the clinical diagnosis of schwannomatosis. Identification of additional genes and pathways involved should be performed to identify possible targets for therapy and relief of pain. Key Concepts Schwannomatosis patients develop multiple schwannomatosis, but not bilateral vestibular schwannomas, the latter being characteristic for neurofibromatosis type 2 (NF2). Pain is the most important clinical symptom in schwannomatosis. It often persists after removal of the schwannoma. The tumour suppressor genes SMARCB1 and LZTR1 are predisposing genes in schwannomatosis. These genes explain many, but not all, sporadic and familial cases. Most germ line SMARCB1 mutations in schwannomatosis are hypomorphic mutations, resulting in the synthesis of a protein with modified activity. Many germ line LZTR1 mutations are loss‐of‐function mutations, resulting in the absence of protein. Independent somatically acquired NF2 mutations are found in the multiple schwannomas of schwannomatosis patients. Unilateral vestibular schwannoma may occur in LZTR1 ‐associated schwannomatosis. Bilateral vestibular schwannomas have not been reported in schwannomatosis patients. The similarities in clinical phenotype between schwannomatosis and mosaic NF2 may cause diagnostic confusion.

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Ossifying Fibromyxoid Tumor of Soft Parts

Cited by 115 publications

References 34 publications

Sox10—A Marker for Not Only Schwannian and Melanocytic Neoplasms But Also Myoepithelial Cell Tumors of Soft Tissue

Sox10—A Marker for Not Only Schwannian and Melanocytic Neoplasms But Also Myoepithelial Cell Tumors of Soft Tissue

Imaging findings of ossifying fibromyxoid tumor with histopathological correlation: A case report

Molecular Genetics of Schwannomatosis

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