LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)

Panagopoulos, Ioannis; Gorunova, Ludmila; Bjerkehagen, Bodil; Lobmaier, Ingvild; Heim, Sverre

doi:10.1016/j.cancergen.2015.07.007

Cited by 21 publications

(21 citation statements)

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“…Aneurysmal fibrous histiocytoma (FH) is an uncommon variant of cutaneous benign FH/dermatofibroma typically presenting as a solitary, pigmented, up to several centimeters in size nodule on extremities or trunk of middle‐aged adults . Some cases may be clinically concerning for melanoma or vascular neoplasia .…”

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“…The local recurrence rate is approximately 20%, if incompletely excised . Aneurysmal FH is a cellular, poorly demarcated dermal proliferation composed of bland fusiform to rounded mononuclear and multinucleated giant cells distributed haphazardly and in storiform areas with distinctive prominent cleft‐like or cavernous blood‐filled pseudovascular spaces, hemosiderin deposits, and abundant hemosiderophages . Peripheral collagen trapping, lipidized cells, and discernible mitotic activity are frequent .…”

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“…LAMTOR1‐PRKCD rearrangement with a concurrent NUMA1‐SFMBT1 gene fusion was detected in one case of aneurysmal FH with 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] karyotype. The authors proposed that the catalytic domain of PRKCD was under control of the LAMTOR1 promotor resulting in abnormal expression of the domain . LAMTOR1‐PRKCD rearrangement has also been found in one case of subcutaneous benign FH with 48,XY, +der(11)ins(11;?3)(q13;p13p21),+20 karyotype, but it is unclear what morphological variant was analyzed.…”

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Aneurysmal fibrous histiocytomas with recurrent rearrangement of the PRKCD gene and LAMTOR1‐PRKCD fusions

2018

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S : aneurysmal dermatofibroma, aneurysmal fibrous histiocytoma, LAMTOR1-PRKCD fusion, next-generation sequencing Aneurysmal fibrous histiocytoma (FH) is an uncommon variant of cutaneous benign FH/dermatofibroma 1 typically presenting as a solitary, pigmented, up to several centimeters in size nodule on extremities or trunk of middle-aged adults. 1,2 Some cases may be clinically concerning for melanoma or vascular neoplasia. 1 The local recurrence rate is approximately 20%, if incompletely excised. 1 Aneurysmal FH is a cellular, poorly demarcated dermal proliferation composed of bland fusiform to rounded mononuclear and multinucleated giant cells distributed haphazardly and in storiform areas 1 with distinctive prominent cleft-like or cavernous blood-filled pseudovascular spaces, hemosiderin deposits, and abundant hemosiderophages. 2 Peripheral collagen trapping, lipidized cells, and discernible mitotic activity are frequent. 1 Its etiopathogenesis is not yet fully understood.We applied next-generation sequencing using TruSeq platform (Illumina, San Diego, California) to perform whole transcriptome sequencing of four aneurysmal FHs ( Figure 1A,B) and one myxoid liposarcoma harboring a known gene fusion (positive control). Transcriptome sequencing data were analyzed by customized bioinformatics pipeline to reveal fusion between late endosomal/lysosomal adaptor and mitogen-activated protein kinase (MAPK) and mammalian target of rapamycin (mTOR) activator 1 (LAMTOR1) and protein kinase C isoform delta (PRKCD) genes in two aneurysmal FH cases ( Figure 1D). The fusion breakpoints were similar and recurrent, fusing the end of exon 1 of LAMTOR1 (11q13.4), with exon 10 of PRKCD (3p21.1) ( Figure 1D). Subsequently, we performed interphase fluorescence in-situ hybridization (FISH) (Abbot Molecular, Vysis, Des Plaines, Illinois) on the initial four and six additional aneurysmal FHs, which showed PRKCD gene rearrangement ( Figure 1C) within the mononuclear and multinucleated cells in the both cases positive by transcriptome sequencing (42% and 38% tumor cells) and one case (34% tumor cells) in the additional set.FISH study failed in one case and was negative in all other cases.Clinical surveillance was available for all patients included in this study (range: 23-60 months; average: 47.6 months). No tumor recurrence was observed in seven proliferations completely removed either at the time of the initial biopsy or subsequent reexcision, or three tumors involving the margins of the initial biopsy that were not reexcised.PRKCD protein is a serine/threonine kinase implicated in tumor promotion, and its catalytic portion has been shown to act as both an anti-and a proapoptotic molecule depending on various factors. 3,4 Even within the same tumor type, the protein may play a contradictory prosurvival or proapoptotic role and it is possible that the gene has different functions at different stages of tumorigenesis. 4 LAM-TOR1 is a highly conserved p18 protein crucial in maintaining cell homeostasis and growth by controlling lysosome...

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Aneurysmal fibrous histiocytomas with recurrent rearrangement of the PRKCD gene and LAMTOR1‐PRKCD fusions

2018

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“…The mechanism underlying the pathogenesis of HDF remains elusive. However, cytogenetic studies have identified recurrent rearrangement of PRKC gene in ADFs and other subtypes 36,37 . Recent studies showed that dysfunction of FXIIIA protein may be also involved in the pathogenesis of DF 38 …”

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Hemosiderotic dermatofibroma mimicking melanoma: A case report and review of the literature

Allen

Loxas

et al. 2021

Clinical Case Reports

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is a common benign skin tumor. Hemosiderotic dermatofibroma (HDF) is a rare variant of DF. It often mimics other skin lesions including melanocytic lesions and vascular tumors. In this report, we described the clinical features and histopathological findings of a rare HDF case that mimics melanoma. Dermatofibroma (DF) is a common benign cutaneous lesion generally reported in the trunk or extremities of young or middle-aged adults with a slight predominance in females. 1,2 Based on specific histopathological features, DF has multiple variants which may include but not limited to aneurysmal/hemosiderotic, 3 cellular, 4 epithelioid cell histiocytoma, 5 atypical (pseudosarcomatous), 6 atrophic, 7 and lipidized. 8 It usually presents as a solitary well-circumscribed nodule with reddish/ brown color on gross examination and central white patch and peripheral pigment network on dermatoscopy. 9 However, this disease has a wide range of presentations. About 29% DF cases harbor atypical macroscopic features resembling other skin malignancies including melanoma (16% of all cases), vascular tumor, and basal cell carcinoma. 10 Hemosiderotic DF (HDF) is a rare variant of DF which is known to have melanoma-like pattern. Skin examination by dermatoscopy is not able to reliably distinguish HDF from melanoma. 10,12 In this scenario, a definite diagnosis could only be made by histopathological examination. There are three cases of HDF reported in the literature from the United States. 13-15 Here, we report another case of HDF which was clinically suspicious for melanoma.

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“…Some scholars indicated the pathogenesis of AFH may be connected with the immunosuppression and potential neoplastic disease [2] [3]. Loannis Panagoulos [4] reported the breakpoints on chromosomes 12 and 19 were between the ETV6 and PIK3C2G gene loci and proximal to the BCL3 gene in AFH by fluorescence in situ hybridization.AFH differs from ordinary benign fibrous histiocytoma by larger than average size, rapid growth due to intra-lesinalhaemorrhage and pigmentation [5]. In this case, the size of tumor was just 1.0 × 1.0 × 1.0 cm, and the tumor did not grow rapidly.…”

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confidence: 99%

Clinic Pathological Study of Aneurysmal Fibrous Histiocytoma

Gao¹,

Lin²

2019

JBM

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Aneurysmal fibrous histiocytoma (AFH) is a rare variant of benign fibrous histiocytoma (FH), Characterized by blood-filled spaces within the fibrohistiocytic tumor. AFH has a higher recurrence rate than FH. The diagnosis of AFH is often problematic due to its overlapping morphological features with other skin tumors. The diagnosis of AFH depends on histological features and immunohistochemistry. The aim of this study is to understand the clinical and histopathological diagnostic criteria for AFH.

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LAMTOR1-PRKCD and NUMA1-SFMBT1 fusion genes identified by RNA sequencing in aneurysmal benign fibrous histiocytoma with t(3;11)(p21;q13)

Cited by 21 publications

References 41 publications

Aneurysmal fibrous histiocytomas with recurrent rearrangement of the PRKCD gene and LAMTOR1‐PRKCD fusions

Aneurysmal fibrous histiocytomas with recurrent rearrangement of the PRKCD gene and LAMTOR1‐PRKCD fusions

Hemosiderotic dermatofibroma mimicking melanoma: A case report and review of the literature

Clinic Pathological Study of Aneurysmal Fibrous Histiocytoma

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