Primary Renal Sarcoma With BCOR-CCNB3 Gene Fusion in an 18-Year-Old Male: A Rare Lesion With a Diagnostic Quandary

Setoodeh, Sasan; Palsgrove, Doreen N.; Park, Jason; Pedrosa, Iván; Kapur, Payal; Jia, Liwei

doi:10.1177/1066896920941087

Cited by 3 publications

(5 citation statements)

References 8 publications

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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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“…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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“…The clinical manifestations were nonspecific with most patients presenting with abdominal pain or hematuria. By imaging and gross studies, the tumors were usually large (range: 8.1–27 cm, median: 12.2 cm) and solid with variable cysts, with 3 cases having inferior vena cava involvements [6, 7].…”

Section: Discussionmentioning

confidence: 99%

“…BCOR-associated sarcomas have parallels in visceral organs including the kidney. BCOR ITD is present in the great majority of clear cell sarcomas of the kidney (CCSK) [4], and BCOR-CCNB3 fusion is found in rare renal sarcomas [3][4][5][6][7].…”

Section: Discussionmentioning

confidence: 99%

“…Including our case, there are a total of 9 cases of renal BCOR-CCNB3 fusion sarcoma reported in the English literature (see online supplementary Table, available at, www. karger.com/doi/10.1159/000518563) [3][4][5][6][7]. All 9 cases have occurred in males including 6 pediatric and 3 adult patients with ages ranging from 8 to 46 years (median: 14 years).…”

Section: Discussionmentioning

confidence: 99%

“…This tumor typically affects teenagers and young adults with a male predominance and occurs in bone and in soft tissue, with a predilection for the pelvis, lower extremity, and paraspinal region [2]. Rare locations have been reported including the kidney [3][4][5][6][7]. We present an ovoid to spindle cell renal tumor harboring a BCOR-CCNB3 fusion confirmed by multiple genetic analyses in a 16-year-old male, which, to the best of our knowledge, represents the ninth case of primary renal BCOR-CCNB3 fusion sarcoma in the English literature.…”

Section: Introductionmentioning

confidence: 99%

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Primary Renal BCOR-CCNB3 Fusion Sarcoma: A Case Report and Review of the Literature

Zhao

Zhang

et al. 2021

Urol Int

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BCOR-CCNB3 fusion sarcoma is a recently described undifferentiated sarcoma with a novel recurrent inversion of 2 nearby genes BCOR and CCNB3. It typically affects bone and soft tissues of the pelvis, extremity, and paraspinal region and pursues variable clinical course. Primary renal BCOR-CCNB3 fusion sarcoma is very rare, and only a small number of cases have been documented. Accurate diagnosis is often challenging, and there is not any agreement for the treatment of this entity due to its rarity. We report findings of primary renal BCOR-CCNB3 fusion sarcoma in a 16-year-old boy with a brief review of the literature.

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Clear Cell Sarcoma of the Kidney (CCSK) With BCOR-CCNB3 Fusion: A Rare Case Report With a Brief Review of the Literature

Dorwal

Abou-Seif

et al. 2022

Pediatr Dev Pathol

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Pediatric renal tumors are a rare entity and majority of these tumors are accounted for by Wilms tumor. The second most common renal tumor is clear cell sarcoma of the kidney (CSSK). Most of the CSSK have either BCOR-internal tandem duplication (ITD) or YWHAE-NUTM2B/E fusion. The sarcomas with BCOR-CCNB3 fusion are well documented in soft tissue and bone tumors, but are extremely rare in the pediatric renal setting. We are reporting an extremely rare case of pediatric clear cell sarcoma of the kidney (CSSK) with BCOR-CCNB3 fusion, which was a diagnostic challenge on morphological grounds. A final diagnosis could only be reached after multiple reviews and NGS based RNA fusion testing. We have also performed a brief review of literature which revealed eight (8) other cases of this rare entity.

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Primary Renal Sarcoma With BCOR-CCNB3 Gene Fusion in an 18-Year-Old Male: A Rare Lesion With a Diagnostic Quandary

Cited by 3 publications

References 8 publications

Soft Tissue and Visceral Organ Sarcomas With BCOR Alterations

Soft Tissue and Visceral Organ Sarcomas With BCOR Alterations

Primary Renal <b><i>BCOR-CCNB3</i></b> Fusion Sarcoma: A Case Report and Review of the Literature

Clear Cell Sarcoma of the Kidney (CCSK) With BCOR-CCNB3 Fusion: A Rare Case Report With a Brief Review of the Literature

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