PRRX-NCOA1/2 rearrangement characterizes a distinctive fibroblastic neoplasm
Publication in refereed journal

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其它資訊
摘要Fibroblastic/myofibroblastic neoplasms represent a broad, and occasionally diagnostically challenging, category of soft tissue neoplasms. A subset of these tumors defy conventional classification. However, with the advent of next-generation sequencing, the identification of disease-defining molecular alterations is gradually improving their subclassification. Following identification of two index cases of a distinctive fibroblastic neoplasm with a fusion gene involving PRRX1 and NCOA1, we performed a retrospective review to further characterize this entity. We identified two additional cases, including one with a fusion between PRRX1 and NCOA2. The average patient age was 38 years, and three patients were female. Two tumors occurred on the neck, and the others involved the groin and thigh. Tumors were centered in the subcutis and ranged from 2.3 to 14.0 cm (average 5.8 cm). Morphologically, they were predominantly hypocellular, with focal hypercellularity. They were composed of monomorphic spindle-stellate cells with a vague fascicular pattern. The nuclei were bland with only rare mitotic activity, and occasional multinucleation. The intervening stroma was typically abundant and ranged from myxoid to collagenous, with frequent rope-like collagen bundles. Three of the cases had a prominent vasculature ranging from numerous small curvilinear vessels to ectatic and branching staghorn-like vessels. Immunohistochemistry was negative for desmin, smooth muscle actin, S100, CD34, keratin, and epithelial membrane antigen. Each of the patients was treated by simple excision and none of the tumors were associated with local recurrence or metastasis. Based on their unique morphological and molecular attributes, we believe this represents a novel fibroblastic tumor for which we have tentatively proposed the name “PRRX-NCOAx-rearranged fibroblastic tumor.”.
出版社接受日期18.04.2019
著者Lacambra MD, Weinreb I, Demicco EG, Chow C, Sung YS, Swanson D, To KF, Wong KC, Antonescu CR, Dickson BC
期刊名稱Genes, Chromosomes and Cancer
出版年份2019
月份10
卷號58
期次10
出版社Wiley
頁次705 - 712
國際標準期刊號1045-2257
語言英式英語
關鍵詞fibroblastic tumor, NCOA2, PRRX1, fusion, NCOA1

上次更新時間 2020-07-08 於 02:14