CIC-rearranged round cell (Ewing-like) sarcoma of the uterus: Review of the literature

Sedighim, Shaina; Burke, Jonathan; Schneider, Douglas; Kamdjou, Talia; Díaz-Pérez, Julio A.; Trent, Jonathan C.; Möller, Mecker G.

doi:10.1016/j.gore.2020.100592

Cited by 6 publications

(5 citation statements)

References 14 publications

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“…Although no recurrent somatic mutations were identified, they detected low mutational burden and recurrent chromosome 1p loss (36). Other researchers also found a low mutational burden by targeted NGS, as well as stable microsatellite status (28), which is consistent with this report. However, we found mutations of POLE and CD79A, which have not been reported before.…”

supporting

confidence: 92%

“…The manifestations are usually not special, mostly occasionally discovery of mass. However, some unique manifestations are also reported, such as mimicking a phlegmon (27), cardiac tamponade (31), vaginal bleeding (28), and massive ascites in this report, which are caused by the tumor invasion of particular organs. The most common metastasis organ of CDS is the lung, followed by the brain and liver.…”

mentioning

confidence: 68%

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A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results

He²

2022

Front. Oncol.

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CIC–DUX4 fusion-positive sarcoma is a subtype of undifferentiated small round cell sarcoma that is rarely reported. As far as we know, less than 200 cases have been reported worldwide to date. The clinicopathologic characteristics of this kind of tumor are non-specific, which makes it difficult to be diagnosed. Therefore, more cases are required to enrich the diagnosis and treatment experience. Here, we present a 17-year-old Asian girl diagnosed with CIC–DUX4 fusion-positive sarcoma after targeted next-generation sequencing. Her clinical manifestation was abdominal pain. Furthermore, a mass in the pelvic cavity and massive ascites were found after an imaging examination. After resection, the mass was sent to the pathology department for a definite diagnosis, and the micromorphology showed an undifferentiated sarcoma with massive necrosis. The tumor cells were round to spindle with clear to eosinophilic cytoplasm and vesicular nuclei. Rhabdoid cells and myxoid mesenchyme were focally shown. Immunohistochemical staining showed diffusely positive for vimentin, cyclin D1, Fli-1, and WT-1 and very focally positive for CD99. Moreover, the targeted next-generation sequencing also revealed other genetic changes in this tumor including LongInDel of POLE, copy number variation of CD79, low tumor mutational burden, and microsatellite stability. With a follow-up time of 6 months, the patient survived the disease and received chemotherapy routinely. This report presented a rare primary site CIC–DUX4 fusion-positive sarcoma (CDS) and revealed novel genetic changes that enrich the manifestation, histology, and cytogenetic scales of this rare sarcoma. In addition, we have summarized the clinicopathologic characteristics of this tumor by reviewing the literature to have a better understanding of CIC–DUX4 fusion-positive sarcomas, which may be helpful for diagnosis and treatment.

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supporting

confidence: 92%

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confidence: 68%

A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results

He²

2022

Front. Oncol.

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“…In this article, we report the first case to our knowledge of a CDS of the uterine cervix, that adds to a single report of CDS evolving gynecological system ( Sedighim et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

CIC-DUX4 rearranged uterine cervix round-cell sarcoma exhibiting near-complete pathologic response following radiation and neoadjuvant chemotherapy: A case report

Vieira

Xavier

Vieira

et al. 2021

Gynecologic Oncology Reports

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“…Treatment is adjuvant chemotherapy per standard Ewing sarcoma protocols administered at other sites, and more than half of patients are treated surgically and/or chemotherapeutically to no evidence of disease after several months to years of surveillance. Unfortunately, about a third succumb to their disease quite rapidly, with relentless progression on therapy and death within <1 year 16–18,22,31,32,34–61 …”

Section: Discussionmentioning

confidence: 99%

Ewing Sarcoma of the Female Genital Tract

Sharma,

Wepy,

Chapel

et al. 2024

American Journal of Surgical Pathology

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Ewing sarcoma is an uncommon neoplasm considered in the differential diagnosis of tumors with “small round cell” morphology, but its occurrence in the gynecologic tract has only been sporadically documented. Herein, we describe the largest cohort of Ewing sarcoma localized to the female genital tract to date, and emphasize their clinicopathologic resemblance to more common gynecologic neoplasms. Ewing sarcoma (n=21) was retrospectively identified from 5 institutions. The average patient age was 35 (range 6–61) years. Tumor sites included uterus (n=8), cervix (n=4), vulva (n=5), vagina (n=1), broad ligament (n=1), inguinal area (n=1), and pelvis (n=1). Nine of 18 cases in which slides were available for review demonstrated only classic round cell morphology, with the remainder showing a variable combination and prominence of variant ovoid/spindle or epithelioid appearance. Tumors showed diffuse membranous reactivity for CD99 (20/20) and were positive for NKX2.2 (8/8, diffuse) and cyclin D1 (7/7, of which 3/7 were patchy/multifocal and 4/7 were diffuse). They were negative for ER (0/6) and CD10 (0/6). Three cases were initially diagnosed as endometrial stromal sarcomas. EWSR1 rearrangement was confirmed in 20/21 by fluorescence in situ hybridization (n=15) and/or sequencing (n=8). Of the eight tumors that underwent sequencing, 6 harbored FLI1, 1 ERG, and 1 FEV as the fusion partner. Of 11 patients with available follow-up, 5 died of disease, 1 developed lung metastases and 5 are alive with no evidence of disease. Ewing sarcoma of the gynecologic tract is a rare, aggressive entity that shares some morphologic and immunohistochemical features with other more common gynecologic neoplasms. In addition to the typical round cell appearance, variant spindled/ovoid to epithelioid morphology may also be observed and should prompt consideration of this entity with appropriate immunohistochemical and/or molecular studies.

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CIC-rearranged round cell (Ewing-like) sarcoma of the uterus: Review of the literature

Cited by 6 publications

References 14 publications

A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results

A case report of CIC–DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results

CIC-DUX4 rearranged uterine cervix round-cell sarcoma exhibiting near-complete pathologic response following radiation and neoadjuvant chemotherapy: A case report

Ewing Sarcoma of the Female Genital Tract

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