ArticleLaboratory investigation; a journal of technical methods and pathology2015
Gene fusion detection in formalin-fixed paraffin-embedded benign fibrous histiocytomas using fluorescence in situ hybridization and RNA sequencing.
Article in Laboratory investigation; a journal of technical methods and pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 82 citations in OpenAlex.
- Cutaneous soft tissue tumors in the 5th edition of the World Health Organization classification of skin tumors: key updates and new entities.Journal of pathology and translational medicine · 2026Article
- Solitary fibrous tumor: an updated review.Journal of pathology and translational medicine · 2026Article
- Clinical and analytical validation of a combined RNA and DNA exome assay across a large tumor cohort.Communications medicine · 2025Article
- Novel dual gene fusions identified in a late pulmonary metastasis of an infantile fibrosarcoma-like tumor.Virchows Archiv : an international journal of pathology · 2025Article
- KIRREL promotes the proliferation of gastric cancer cells and angiogenesis through the PI3K/AKT/mTOR pathway.Journal of cellular and molecular medicine · 2024Article
- Perforating Fibrous Histiocytoma Mimicking Keratoacanthoma: A Case Report.Dermatopathology (Basel, Switzerland) · 2023Article
- Extensive analysis of 59 sarcoma-related fusion genes identified pazopanib as a potential inhibitor to COL1A1-PDGFB fusion gene.Cancer science · 2023Article
- Challenging Patterns of Atypical Dermatofibromas and Promising Diagnostic Tools for Differential Diagnosis of Malignant Lesions.Diagnostics (Basel, Switzerland) · 2023Review
- Deep fibrous histiocytoma of the index finger: a case report.Case reports in plastic surgery & hand surgery · 2023Article
- Epithelioid fibrous histiocytoma: three diagnostically challenging cases with novel ALK gene fusions, unusual storiform growth pattern, and a prominent spindled morphology.Virchows Archiv : an international journal of pathology · 2022Article
- Multiple benign fibrous histiocytomas of the mandible: A case report and review of the literature.Experimental and therapeutic medicine · 2022Article
- Overarching roles of diacylglycerol signaling in cancer development and antitumor immunity.Science signaling · 2022Review
- Clinically relevant fusion oncogenes: detection and practical implications.Therapeutic advances in medical oncology · 2022Review
- Plaque-Like Dermatofibroma: Case Report of a Rare Entity.Dermatopathology (Basel, Switzerland) · 2021Article
- The complexities of PKCα signaling in cancer.Advances in biological regulation · 2021Review
- Broadening the spectrum of NTRK rearranged mesenchymal tumors and usefulness of pan-TRK immunohistochemistry for identification of NTRK fusions.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Cutaneous soft tissue tumors: how do we make sense of fibrous and "fibrohistiocytic" tumors with confusing names and similar appearances?Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Review
- Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Fine needle aspirates of kidneys: a promising tool for RNA sequencing in native and transplanted kidneys.BMC nephrology · 2018Article
- Epithelioid cell histiocytoma with SQSTM1-ALK fusion: a case report.Diagnostic pathology · 2018Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
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Abstract
Benign fibrous histiocytomas (FH) can be subdivided into several morphological and clinical subgroups. Recently, gene fusions involving either one of two protein kinase C genes (PRKCB and PRKCD) or the ALK gene were described in FH. We here wanted to evaluate the frequency of PRKCB and PRKCD gene fusions in FH. Using interphase fluorescence in situ hybridization on sections from formalin-fixed paraffin-embedded (FFPE) tumors, 36 cases could be analyzed. PRKCB or PRKCD rearrangements were seen in five tumors: 1/7 regular, 0/3 aneurysmal, 0/6 cellular, 2/7 epithelioid, 0/1 atypical, 2/10 deep, and 0/2 metastatic lesions. We also evaluated the status of the ALK gene in selected cases, finding rearrangements in 3/7 epithelioid and 0/1 atypical lesions. To assess the gene fusion status of FH further, deep sequencing of RNA (RNA-Seq) was performed on FFPE tissue from eight cases with unknown gene fusion status, as well as on two FH and six soft tissue sarcomas with known gene fusions; of the latter eight positive controls, the expected fusion transcript was found in all but one, while 2/8 FH with unknown genetic status showed fusion transcripts, including a novel KIRREL/PRKCA chimera. Thus, also a third member of the PRKC family is involved in FH tumorigenesis. We conclude that gene fusions involving PRKC genes occur in several morphological (regular, cellular, aneurysmal, epithelioid) and clinical (cutaneous, deep) subsets of FH, but they seem to account for only a minority of the cases. In epithelioid lesions, however, rearrangements of PRKC or ALK were seen, as mutually exclusive events, in the majority (5/7) of cases. Finally, the study also shows that RNA-Seq is a promising tool for identifying gene fusions in FFPE tissues.
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