COL1A1-PDGFB fusion uterine fibrosarcoma: A case report with treatment implication

Grindstaff, Samuel; DiSilvestro, Jessica; Hansen, Katrine; DiSilvestro, Paul; Sung, C. James; Quddus, M. Ruhul

doi:10.1016/j.gore.2019.100523

Cited by 18 publications

(51 citation statements)

References 9 publications

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“…The only tumor with a macroscopic description reported in the literature showed a pink‐tan white whorled appearance with necrosis 54 . Microscopically the COL1A1‐PDGFB fusion uterine sarcoma is highly cellular and composed of relatively uniform cells with ovoid to spindle shaped nuclei and scant cytoplasm with inapparent cell borders.…”

Section: Col1a1‐pdgfb Fusion Uterine Sarcomamentioning

confidence: 99%

“…The tumors have infiltrating borders. One reported tumor showed a heterogeneous pattern with areas of low cellularity with a fascicular leiomyoma‐like appearance 54 . Cytologic atypia varies from mild to moderate, with generally brisk mitotic activity (from 8 to 45/10 HPF, mean 23, median 20).…”

Section: Col1a1‐pdgfb Fusion Uterine Sarcomamentioning

confidence: 99%

“…COL1A1‐PDGFB rearranged uterine sarcoma (discussed later) 12,54 could also be in the differential diagnosis. These recently described uterine sarcomas typically show a higher cellularity and a more storiform architecture than NTRK fusion sarcoma and they lack an inflammatory infiltrate.…”

Section: Ntrk Fusion Uterine Sarcomamentioning

confidence: 99%

“…COL1A1‐PDGFB fusion uterine sarcoma is a rare, recently described neoplasm, with only four cases reported in the literature 12,54 ; these tumors share the same gene fusion with soft tissue dermatofibrosarcoma protuberans 59‐61 and pediatric giant cell fibroblastoma 62 . Clinically the patients with COL1A1‐PDGFB fusion uterine sarcomas have been older (43 to 82 years, mean 58, median 54) than the patients with NTRK rearranged sarcomas.…”

Section: Col1a1‐pdgfb Fusion Uterine Sarcomamentioning

confidence: 99%

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NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

Croce

Hostein

McCluggage

2020

Genes Chromosomes & Cancer

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The landscape of uterine sarcomas has greatly expanded in recent years to include neoplasms with recurrent gene fusions, such as BCOR and YWHAE translocated high‐grade endometrial stromal sarcomas. Sophisticated molecular techniques have also resulted in the description of “new” entities associated with recurrent kinase fusions involving NTRK and RET as well as COL1A1‐PDGFB rearranged uterine sarcomas. These rare neoplasms will be discussed in this review, highlighting that some of the underlying molecular events are clinically actionable and potentially susceptible to targeted therapy. While relatively few of these neoplasms have been described to date, likely being previously lumped under the spectrum of undifferentiated uterine sarcoma, the number of cases will expand in the future given their recognition and the increasing availability of molecular testing. These neoplasms have overlapping morphology (often with a “fibrosarcoma‐like” appearance) and immunohistochemical features, and are characterized by variable clinical outcomes. Although immunohistochemistry may assist in some cases, a definitive subclassification requires confirmatory molecular studies. As these molecular assays may not be routinely available in most laboratories, referral to reference centers may be needed. In order to assist the pathologist, we suggest a diagnostic algorithm for routine practice when dealing with a malignant or potentially malignant uterine spindle cell neoplasm.

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Section: Col1a1‐pdgfb Fusion Uterine Sarcomamentioning

confidence: 99%

Section: Col1a1‐pdgfb Fusion Uterine Sarcomamentioning

confidence: 99%

Section: Ntrk Fusion Uterine Sarcomamentioning

confidence: 99%

Section: Col1a1‐pdgfb Fusion Uterine Sarcomamentioning

confidence: 99%

See 2 more Smart Citations

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

Croce

Hostein

McCluggage

2020

Genes Chromosomes & Cancer

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“…In October of 2019, we reported a case of COL1A1-PDGFB fusion uterine sarcoma that had a response to Imatinib therapy ( Grindstaff, 2020 ). COL1A1-PDGFB fusions are most commonly found in dermatofibrosarcoma protuberans (DFSP) ( Takahira, 2007 ) and have only recently been reported in uterine sarcomas with fibrosarcomatous features.…”

mentioning

confidence: 99%

COL1A1-PDGFB fusion uterine sarcoma and its response to Imatinib therapy

Grindstaff

DiSilvestro

Quddus

2020

Gynecologic Oncology Reports

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COL1A1::PDGFB fusion‐associated uterine fibrosarcoma: A case report and review of the literature

Rota,

Franza,

Fabbroni

et al. 2024

Cancer Reports

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BackgroundMesenchymal neoplasms of the uterus encompass a diverse group of tumors, with varying characteristics and origins, collectively accounting for 8% of uterine malignancies. The most common variants include uterine leiomyosarcoma, low‐grade and high‐grade endometrial stromal sarcoma, adenosarcoma, and undifferentiated sarcoma. Clinical presentation is often nonspecific and can lead to delayed diagnosis. Uterine sarcomas are generally aggressive, resulting in poorer prognosis compared to carcinomas. Recent advances in molecular techniques, such as next‐generation sequencing (NGS), have led to the identification of new subtypes of uterine sarcomas, including COL1A1::PDGFB fusion‐associated fibrosarcoma, which has a specific chromosomal translocation t(17;22)(q22;q13). Imatinib, a tyrosine kinase inhibitor (TKI), is an effective treatment for dermatofibrosarcoma protuberans (DFSP), marked by this translocation.CaseWe present the case of a 42‐year‐old woman diagnosed with COL1A1::PDGFB fusion‐associated uterine fibrosarcoma. The patient underwent total hysterectomy and excision of the tumor, initially misdiagnosed as a low‐grade leiomyosarcoma. Subsequent histological examination, immunohistochemistry, and fluorescence in situ hybridization (FISH) confirmed the diagnosis. After 10 months, disease recurrence was detected, and Imatinib therapy was initiated at a dose of 400 mg daily. An allergic reaction led to a temporary discontinuation, but upon resumption with appropriate medication, a positive radiological response was observed. The patient achieved a complete remission after 2 years and is still on Imatinib treatment.ConclusionsCOL1A1::PDGFB fusion‐associated uterine fibrosarcoma is an extremely rare mesenchymal neoplasm. In a case we present herein, we treated a patient with imatinib as first‐line medical therapy. The patient is currently in complete remission after 37 months from treatment start. To the best of our knowledge, this represents a unique observation. We also provide a detailed literature review of the published cases so far. Prospective case series are needed to further understand the natural history of these tumors and optimize treatment strategies.

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COL1A1-PDGFB fusion uterine fibrosarcoma: A case report with treatment implication

Cited by 18 publications

References 9 publications

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

NTRK and other recently described kinase fusion positive uterine sarcomas: A review of a group of rare neoplasms

COL1A1-PDGFB fusion uterine sarcoma and its response to Imatinib therapy

COL1A1::PDGFB fusion‐associated uterine fibrosarcoma: A case report and review of the literature

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