COL1A1-PDGFB fusion

Another main point of this review is that cases of DFSP with fibrosarcomatous transformation are a challenge and require careful medical attention. Both anatomopathological evaluation of the presence of lymphovascular space invasion and sentinel lymph node biopsy at DFSP surgery merit further study.

Pazopanib was selected as a candidate drug for sarcomas harboring the COL1A1-PDGFB fusion gene. This assessment could be useful as a screening platform and provides a database to evaluate customized therapy for fusion gene-associated sarcomas.

Despite being described almost twenty years ago, and with less than 30 cases reported in the literature, there are still many aspects of this condition that remain unclear. Typically, the majority of affected individuals are females, and it is generally believed to be a congenital or early-life occurrence. Given its clinical presentation, differential diagnoses to consider include aplasia cutis, atrophoderma, anetoderma, and congenital (DFSP).

Although imatinib, a PDGF receptor inhibitor, is a potent therapeutic agent for classic DFSP, it is less effective for DFSP with fibrosarcomatous transformation. By screening a drug library, we found that bortezomib and romidepsin demonstrated the strongest suppressive effects on the proliferation of NCC-DFSP4-C1 cells. In conclusion, we report a novel cell line of DFSP with fibrosarcomatous transformation, and demonstrate its utility in the development of novel therapeutic agents for DFSP.

Radiotherapy may be used for margin-positive disease where re-excision is not possible or for inoperable disease. In this case series, all cases of DFSP were treated by MMS with zero recurrence rate as of this writing

Radiotherapy may be used for margin-positive disease where re- excision is not possible or for inoperable disease. In this case series, all cases of DFSP were treated by MMS with zero recurrence rate as of this writing.

Bulk RNA-Seq provided with high detection rate of COL1A1-PDGFB. Dermatofibrosarcoma protuberans showed fibroblastic activity and neural features, which validated DFSP's fibroblast origin and tendency of neural differentiation.

The RNA panel detected specific fusions in several cases where no conclusive diagnosis can be made based on the morphology and immunohistochemistry results. Data collected in this study demonstrate that the RNA fusions panel can better classify STS subtypes and serve as a good supplement for histopathology, exhibiting a great potential for the STS precise diagnosis.

Treatment for 63 patients comprised 40 marginal excisions and 23 wide local excisions (WLEs), including 1 with imatinib therapy...FISH is valuable in biopsy tissues and cases with atypical CD34 immunostaining, while supplementary NGS could be helpful to identify the cytogenetically cryptic DFSP. Overall, an urgent accurate diagnosis is needed to formulate an optimal therapeutic strategy in the pediatric population.

In summary, uterine COL1A1-PDGFB fusion associated fibrosarcomas are rare tumors with aggressive clinical behavior that need to be considered in the differential diagnosis of CD34-positive uterine spindle cell neoplasms. Novel treatment options may include imatinib, a tyrosine kinase inhibitor used for treatment of advanced and unresectable dermatofibrosarcoma protuberans that was given in 1 uterine sarcoma case and showed promising initial response.

FISH has shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and widely applied in clinical detection. However, for cases with negative routine FISH screening that were highly suspicious for DFSPs, supplementary NGS or at least COL1A1 break-apart FISH screening could be helpful to identify cryptic COL1A1-PDGFB fusions or other variant fusions.

No abstract available

Facial DFSP occurs predominantly in males, while FS-DFSPs are more likely to exhibit myxoid degeneration and a worse prognosis. Notably, negative surgical margin status determined a satisfactory prognosis.

Bei DFSP-FS besteht eine höhere Wahrscheinlichkeit für myxoide Degeneration bei insgesamt schlechterer Prognose. Ein negativer Status der chirurgischen Schnittränder zeigte eine gute Prognose an.

The molecular analysis identified the transcription product of gene fusion COL1A1-PDGFB and thus, final diagnosis was confirmed. The article includes review of the literature and brief historical overview of giant cell fibroblastoma concept as an unique entity.

There is a wide variety of uterine mesenchymal tumours whose understanding improved thanks to recent advances in molecular biology, that allowed to define a new group of uter-ine fibrosarcoma like neoplasms. It includes a new entity with COL1A1- PDGFB fusion, with only 4 cases reported in the lit-erature and not yet described in the WHO classification of female genital tumours. At the time of this work, our patient is doing well, waiting for a radiological examination and neovaginal dehiscence surgery.

PCLMS is a malignant tumor with a high recurrence rate and poor prognosis. These cases may provide useful information to improve the diagnosis and management of PCLMS.

We report a fifth case initially mistaken as a uterine fibroid which histologically proved to be a CD34+high-grade spindle cell proliferation which on fluorescencein situhybridization analysis displayed COL1A1-PDGFB gene rearrangement. With this case description we hope to raise awareness and aid in the characterization of this emerging entity.

This is the first published example of DFSP harboring coamplification of 12q and 12p sequences. More importantly, the genetic aberrations restricted to the fibrosarcomatous component indicated a synergistic role of higher-grade progression.

In conclusion, 8.6% of DFSPs are negative for PDGFB break-apart FISH, which, especially those with challenging subcutaneous and circumscribed manifestation, require complementary diagnosis by FISH assays targeting COL1A1 and PDGFD. The types of fusion gene rearrangements, head and neck location, and fibrosarcomatous transformation may account for clinicopathologic and prognostic variations in DFSPs and warrant future independent validation.

DFSP often presents with unresectable tumours. Some cases benefit from adjuvant treatment with Imatinib, showing clinical responses and allowing surgical resection with wider margins. Scarce data is avail- able regarding histological features of treated DFSP.