PHF1 Rearrangements in Ossifying Fibromyxoid Tumors of Soft Parts

Graham, Rondell P.; Weiss, Sharon W.; Sukov, William R.; Goldblum, John R.; Billings, Steven D.; Dotlić, Snježana; Folpe, Andrew L.

doi:10.1097/pas.0b013e31829644b4

Cited by 76 publications

(16 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These tumors normally have a longstanding clinical course, ranging from 1 to 20 years, or even longer (median, 4 years) [ 3 , 32 ]. On radiographic examination, OFMT presents as a nodular soft tissue mass with an incomplete peripheral rim of ossification [ 27 , 33 ]. CT reveals a peripheral “bone shell” in at least 60% to 70% of cases [ 15 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

“…OFMT histopathology is characterized by the presence of uniform lobules, round to fusiform-shaped cells arranged in nests and cords, and set in a variably fibromyxoid stroma [ 27 ]. Approximately 70% of lesions are surrounded by an incomplete shell of metaplastic (hypocellular) lamellar bone, and the other 30% lack the bone shell (non-ossifying variant) [ 27 , 33 ]. Our reported case was surrounded by a shell of lamellar bone.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Ossifying Fibromyxoid tumor of soft parts in head and neck: case report and literature review

Velasco

Zhang

et al. 2018

Diagn Pathol

View full text Add to dashboard Cite

BackgroundOssifying fibromyxoid tumor of soft parts (OFMT), is a rare but morphologically distinctive neoplasm of uncertain histogenesis that most frequently affects middle-aged male adults. Clinically, it usually presents as a slowly enlarging, small, circumscribed mass, which in most cases is painless. OFMT is most frequently found within the subcutaneous tissues of extremities or trunk, and rarely in the oral/head and neck region. We present an unusual case of this tumor in the submandibular region, and, based on the current medical literatures this is probably the first case described in this anatomical location.Case presentationA 32-year-old male presented to our outpatient clinic with a right submandibular mass with 1-year of evolution. Excisional biopsy showed that it was characterized by ossification along the periphery of the lesion. The neoplastic cells were spindle-like with scant eosinophilic cytoplasm. These cells were arranged with uniform cell-to-cell space in a fibromyxoid stroma. Small and large clusters of calcifications were present within the tumor. Immunohistochemically, the case showed positive staining of S-100 protein, vimentin, nestin, calponin, SMA, GFAF, desmin, INI-1, caldesmon, and CD34. It also showed negative staining of CK, CK7, CK8/18, NF, and EMA. About 2% of neoplastic cells showed positive staining of Ki67. Based on these features, the final pathological diagnosis was OFMT.ConclusionsIt is hoped that a greater understanding of OFMT in the head and neck region will avoid potential misdiagnosis, and contribute to determining the correct management, which appears to be complete surgical excision with close follow-up for recurrence surveillance.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Ossifying Fibromyxoid tumor of soft parts in head and neck: case report and literature review

Velasco

Zhang

et al. 2018

Diagn Pathol

View full text Add to dashboard Cite

show abstract

“…Early cytogenetic studies identified recurrent rearrangements involving the PHF1 locus on chromosome 6. 59,60 The fusion landscape of ossifying fibromyxoid tumor has been more thoroughly defined in two recent papers. In the combined series, researchers analyzed over 40 cases and found multiple different fusions.…”

Section: Recurrent Polycomb-member Rearrangements Characterize a Divementioning

confidence: 99%

Epigenetic Alterations in Bone and Soft Tissue Tumors

Wojcik

Cooper²

2017

Advances in Anatomic Pathology

View full text Add to dashboard Cite

Human malignancies are driven by heritable alterations that lead to unchecked cellular proliferation, invasive growth and distant spread. Heritable changes can arise from changes in DNA sequence, or, alternatively, through altered gene expression rooted in epigenetic mechanisms. In recent years, high-throughput sequencing of tumor genomes has revealed a central role for mutations in epigenetic regulatory complexes in oncogenic processes.1–3 Through interactions with or direct modifications of chromatin, these proteins help control the accessibility of genes, and thus the transcriptional profile of a cell. Dysfunction in these proteins can lead to activation of oncogenic pathways or silencing of tumor suppressors. While epigenetic regulators are altered across a broad spectrum of human malignancies, they play a particularly central role in tumors of mesenchymal and neuroectodermal origin (table 1). This review will focus on recent advances in the understanding of the molecular pathogenesis of a subset of tumors in which alterations in the polycomb family of chromatin modifying complexes, the SWI/SNF family of nucleosome remodelers, and histones play a central role in disease pathogenesis. While this review will focus predominantly on the molecular mechanisms underlying these tumors, each section will also highlight areas in which an understanding of the molecular pathogenesis of these diseases has led to the adoption of novel immunohistochemical and molecular markers.

show abstract

“…It is now established that OFMT is a translocation related tumor. Up to 85% of cases carry PHF1 gene translocation, without significant differences among typical, atypical and malignant forms [ 7 , 8 ], suggesting a precise role of this translocation in oncogenesis, still unknown. A possible mechanism of action may be through an epigenetic effect.…”

Section: Introductionmentioning

confidence: 99%

“…A possible mechanism of action may be through an epigenetic effect. Actually, PHF1 has a role in the regulation of chromatin structure, interacting with EZH1, EZH2 and SUZ12 [ 8 ]. Obviously, seeking the translocation is useful in differential diagnosis with other soft tissue neoplasms.…”

Section: Introductionmentioning

confidence: 99%

Response to isolated limb perfusion and chemotherapy with epirubicin plus ifosfamide in a metastatic malignant ossifying fibromyxoid tumor

et al. 2017

View full text Add to dashboard Cite

BackgroundOssifying fibromyxoid tumor (OFMT) is a rare soft tissue neoplasm of uncertain lineage and intermediate biological potential. It is more common in middle-aged men, usually arising from the deep tissues of the extremities. It is now established that it is a translocation related tumor, most often marked by translocation of PHF1 gene. Surgery is the mainstay of treatment and proves usually curative, although, in rarer cases the disease shows malignant features and tendency to recur both locally and at distant sites. In such cases, no standard treatment exists.Case presentationWe report on a case of malignant advanced OFMT of the hand with lung metastases responding to isolated limb perfusion with human recombinant tumor necrosis factor and melphalan and chemotherapy with epirubicin and ifosfamide.ConclusionsTo our knowledge, this is the first report of activity of soft tissue sarcoma-oriented chemotherapy in advanced OFMT.

show abstract

PHF1 Rearrangements in Ossifying Fibromyxoid Tumors of Soft Parts

Cited by 76 publications

References 16 publications

Ossifying Fibromyxoid tumor of soft parts in head and neck: case report and literature review

Ossifying Fibromyxoid tumor of soft parts in head and neck: case report and literature review

Epigenetic Alterations in Bone and Soft Tissue Tumors

Response to isolated limb perfusion and chemotherapy with epirubicin plus ifosfamide in a metastatic malignant ossifying fibromyxoid tumor

Contact Info

Product

Resources

About