Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2021 Feb;48(2):255-262.
doi: 10.1111/cup.13870. Epub 2020 Nov 8.

EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and review

Omar Habeeb  1 , Katelen E Korty  2 , Elizabeth M Azzato  2 , Caroline Astbury  2 , Daniel H Farkas  2 , Jennifer S Ko  2 , Steven D Billings  2
Affiliations
Review

EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and review

Omar Habeeb et al. J Cutan Pathol. 2021 Feb.

Abstract

We report the largest series to date (N = 6) of EWSR1-SMAD3 rearranged fibroblastic tumor. Initially described in 2018, the tumor features a marked female predominance (F:M, 5:1, mean age 44-years, median age 45.5 years; range 27-57), with most cases (5/6, 83%) arising in acral locations (4 on foot/toe, 1 on hand). One case presented on the lower extremity. The lesions presented as nodules and were composed of short, variably cellular, intersecting fascicles of uniform spindled cells in a collagenous to myxoid stroma. In four cases, the tumor abutted the epidermis without a grenz zone. In one case, there was an abrupt transition to a central, acellular hyalinized area. Two other cases had admixed smaller collagenous areas, reminiscent of collagen rosettes. One had a concentric arrangement of tumor cells around blood vessels. Mitotic activity was low (<1/10 HPFs). All were positive for ERG by immunohistochemistry and negative for CD34 (6/6). An EWSR1-SMAD3 fusion was identified in three cases tested by next-generation sequencing (3/3). Rearrangement of EWSR1 by fluorescence in situ hybridization was showed in 1/1 case. Our series reaffirms prior findings and expands the known histopathologic spectrum of this emerging entity.

Keywords: EWSR1-SMAD3 rearranged fibroblastic tumor; acral; fluorescence in situ hybridization; immunohistochemistry; next-generation sequencing; skin; soft tissue neoplasm.

PubMed Disclaimer

Comment in

References

REFERENCES

    1. Kao YC, Flucke U, Eijkelenboom A, et al. Novel EWSR1-SMAD3 gene fusions in a group of acral fibroblastic spindle cell neoplasms. Am J Surg Pathol. 2018;42(4):522-528.
    1. Michal M, Berry RS, Rubin BP, et al. EWSR1-SMAD3-rearranged fibroblastic tumor: an emerging entity in an increasingly more complex group of fibroblastic/myofibroblastic neoplasms. Am J Surg Pathol. 2018;42(10):1325-1333.
    1. Ko JS, Marusic Z, Azzato EM, et al. Superficial sarcomas with CIC rearrangement are aggressive neoplasms: a series of eight cases. J Cutan Pathol. 2020;47(6):509-516.
    1. Zhao L, Sun M, Lao IW, Yu L, Wang J. EWSR1-SMAD3 positive fibroblastic tumor. Exp Mol Pathol. 2019;110:104291.
    1. Fetsch JF, Laskin WB, Miettinen M. Superficial acral fibromyxoma: a clinicopathologic and immunohistochemical analysis of 37 cases of a distinctive soft tissue tumor with a predilection for the fingers and toes. Hum Pathol. 2001;32(7):704-714.

MeSH terms

LinkOut - more resources