An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study

Krsková, Lenka; Kabíčková, Edita; Drahokoupilová, Eva; Kopečková, Kateřina; Vítková, Pavla; Mrhalová, Marcela; Zámečnı́k, Josef; Kodet, Roman

doi:10.4149/neo_2018_171107n716

Cited by 6 publications

(6 citation statements)

References 17 publications

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“…The mean age of cases for which age was described was 13.8 years (range, 2-25 years), similar to the cited peak incidence between 5 and 20 years old for the Ewing sarcoma family of tumors (23). Evaluating 70 cases with descriptions of sex, males are affected more frequently, with a male-to-female ratio of 6.7:1 (4,(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). The bone sites involved are most often a long bone of the limbs (n=28, 38.9%), followed by the pelvis (n=27, 37.5%), calcaneus (n=7, 9.7%), and spine (n=6, 8.3%).…”

Section: Bcor-ccnb3 Fusion Sarcoma Was First Identified Bysupporting

confidence: 66%

“…This sarcoma remains a tumor that orthopedic surgeons rarely encounter. To clarify the clinical characteristics of the emerging subset of bone sarcomas with BCOR-CCNB3 fusion, we evaluated a total of 72 cases of BCOR-CCNB3 sarcoma of bone reported between 2012 and 2021 (including the present case), where at least the location of the affected bone or outcome at final follow-up was described (Table I) (4,(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22).…”

Section: Bcor-ccnb3 Fusion Sarcoma Was First Identified Bymentioning

confidence: 99%

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BCOR‑CCNB3 sarcoma arising in the proximal tibia: A case report

et al. 2022

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BCL6 corepressor-cyclin B3 (BCOR-CCNB3) fusion sarcoma was classified as an emerging subgroup of undifferentiated small round cell sarcoma in 2020. The incidence of BCOR-CCNB3 fusion sarcoma is reportedly 1.5-14% among undifferentiated unclassified sarcomas, representing a rare entity among primary malignant bone tumors. The present study reports a case of BCOR-CCNB3 fusion sarcoma in the proximal tibia of a boy. A 12-year-old boy presented with a 6-month history of knee pain and a slowly growing mass in the anteromedial aspect of the left proximal tibia. Plain radiography and computed tomography of the knee demonstrated a lytic lesion with cortical destruction of the proximal tibia. Magnetic resonance imaging showed the bone tumor expanding into soft tissue with almost homogeneous hypointensity on T1-weighted imaging and slightly hyperintensity on T2-weighted imaging. On histopathological evaluation, the tumor comprised a proliferation of small, round to ovoid-shaped mesenchymal cells without osteoid formation. Histopathologically, BCOR-CCNB3 sarcoma of bone was finally diagnosed based on immunohistochemical staining and additional molecular analyses. The patient underwent bone tumor resection followed by pre-and post-operative chemotherapy according to a Ewing sarcoma protocol. The patient showed no evidence of local recurrence or distant metastasis at 12 months after completion of adjuvant chemotherapy. We present herein an additional case of BCOR-CCNB3 sarcoma of the proximal tibia, and review the relevant literature on BCOR-CCNB3 sarcoma of bone.

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Section: Bcor-ccnb3 Fusion Sarcoma Was First Identified Bysupporting

confidence: 66%

Section: Bcor-ccnb3 Fusion Sarcoma Was First Identified Bymentioning

confidence: 99%

BCOR‑CCNB3 sarcoma arising in the proximal tibia: A case report

et al. 2022

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“…Forty-one publications met criteria for inclusion 2,4,5,7–46. These publications described 190 patients with BCOR altered sarcomas arising from the soft tissues and organs (Table 1).…”

Section: Resultsmentioning

confidence: 99%

Soft Tissue and Visceral Organ Sarcomas With BCOR Alterations

Whittle

Fetzko

Roy

et al. 2022

Journal of Pediatric Hematology/Oncology

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Sarcomas with BCOR alteration are a heterogenous group characterized by changes including internal tandem duplications (ITDs) and recurring fusions with CCNB3, ZC3H7B, and other rare partners. With widespread genomic testing, these alterations are now associated with histologies such as Ewing-like sarcoma (BCOR:: CCNB3), high-grade endometrial stromal sarcoma (ZC3H7B:: BCOR), and clear cell sarcoma of kidney (BCOR-ITD). BCOR altered sarcomas of soft tissues and organs were identified through PubMed using keywords "Sarcoma (AND) BCOR" from 2005 through October 2021. Summary statistics and outcome data were calculated using STATA v12.1. Forty-one publications described 190 patients with BCOR altered soft tissue or organ sarcomas. BCOR-ITD was most common, followed by BCOR::CCNB3, ZC3H7B:: BCOR. BCOR-ITD tumors occurred mainly in infants, BCOR:: CCNB3 commonly occurred in adolescent young adults, and ZC3H7B::BCOR only in adults. The most common site for BCOR:: CCNB3 fused tumors was extremity, BCOR-ITD kidney and ZC3H7B::BCOR uterus. Metastasis was rare in patients with BCOR::CCNB3. While most underwent resection and chemotherapy, few received radiation. Median follow-up of survivors was 24 months. Five year overall survival for patients with BCOR::CCNB3 fusions was 68% (95% confidence interval [CI]: 46%-83%). Patients with BCOR-ITD and ZC3H7B::BCOR had worse prognoses with 5 years overall survival of 35% (95% CI: 15%-56%) and 41% (95% CI: 11%-71%), respectively, demonstrating need for collaborative efforts identifying optimal treatments to improve outcomes.

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“…Bone has almost been consistently reported as the most common origin [ 1 , 2 , 4 , 10 , 14 ]. Of note, most cases presented with localized disease [ 1 , 2 , 7 , 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…BCOR-rearranged round cell sarcomas are extremely rare tumors, with a more favorable outcome compared to CIC::-DUX4 round cell sarcoma. We reviewed the literature and identified a total of 166 reported cases of BCOR-rearranged sarcoma[1][2][3][4][6][7][8][9][10][11][12][13][14][15][16][17]. Molecular alterations included BCOR::CCNB3 in 131 patients (79%), other BCOR fusions…”

mentioning

confidence: 99%

A Rare Case of Nasal Sarcoma with BCOR Internal Tandem Duplication Showing Complete Pathologic Response to the VDC-IE Chemotherapy Protocol

Salah,

Sughayer,

Jaber

et al. 2023

Case Reports in Oncological Medicine

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Sarcoma with BCOR genetic alteration is an exceptionally rare and emerging subtype of sarcoma. It is categorized into two types: BCOR-related gene fusions such as BCOR::CCNB3 sarcomas and other BCOR-rearranged sarcoma and sarcomas with internal tandem duplication of BCOR genes such as infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy. BCOR::CCNB3 sarcomas predominantly arise in bone rather than soft tissue and exhibit a higher occurrence in children and adolescent males, whereas sarcomas with BCOR internal tandem duplication show a wider age range but usually arise in the first year of life. Due to their rarity, there is ongoing debate and uncertainty regarding the best treatment approach, with a lack of specific clinical trials addressing these tumors. In this report, we present a unique case of sarcoma with internal tandem duplication of BCOR gene originating in the nasal region. The tumor was successfully and completely resected using the standard VDC-IE chemotherapy protocol, resulting in an unprecedented 100 percent tumor necrosis. The patient has completed the protocol and remains recurrence-free 13 months after diagnosis. This case suggests potential efficacy of the standard VDC-IE protocol in achieving remarkable responses in BCOR rearrangement sarcomas, including the internal tandem duplication subtype. However, further studies are needed to determine the optimal treatment strategies for this disease.

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An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study

Cited by 6 publications

References 17 publications

BCOR‑CCNB3 sarcoma arising in the proximal tibia: A case report

BCOR‑CCNB3 sarcoma arising in the proximal tibia: A case report

Soft Tissue and Visceral Organ Sarcomas With BCOR Alterations

A Rare Case of Nasal Sarcoma with BCOR Internal Tandem Duplication Showing Complete Pathologic Response to the VDC-IE Chemotherapy Protocol

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