J Pathol Transl Med.  2025 Jan;59(1):84-90. 10.4132/jptm.2024.09.30.

Primary renal BCOR::CCNB3 sarcoma in a female patient: case report

• Lee S
• Kim B

• KMID: 2563887
• DOI: http://doi.org/10.4132/jptm.2024.09.30

Abstract

BCOR-rearranged sarcoma was classified by the World Health Organization in 2020 as a new subgroup of undifferentiated small round-cell sarcoma. It is known to occur very rarely in the kidney. This report presents the first case of a primary renal BCOR::CCNB3 sarcoma in a 22-year-old woman. An 8-cm cystic mass was identified in the left kidney by abdominal pelvic computed tomography. Histopathologic examination revealed the mass to be composed of small round to oval or spindle cells with fibrous septa and a delicate vascular network. A BCOR::CCNB3 fusion was detected by next-generation sequencing–based molecular testing. BCOR::CCNB3 sarcoma presents diagnostic difficulties, highlighting the importance of recognizing its histological features. Immunohistochemical markers are helpful for diagnosis, but genetic molecular testing is necessary for accurate diagnosis. These tumors have a very poor and aggressive prognosis, and an optimal therapeutic regimen has not yet been defined. Therefore, further studies are needed.

Keyword

-rearranged sarcoma; Primary renal sarcoma; Female

Figure

• 

  Fig. 1. Computed tomography image and gross findings. (A) Computed tomography scan reveals a well-defined, huge, solid-cystic tumor with focal enhancement (arrow). (B) A well-demarcated large solid tumor with cystic change in the renal pelvis.

• 

  Fig. 2. Microscopic and immunohistochemistry findings of the tumor. (A) Solid growth pattern separated by fibrous septa. (B) Cystic change. (C) Necrosis. (D) Vascular networks with extravasated red blood cells. (E) Round to oval tumor cells with vesicular nuclei, irregular nuclear membrane, inconspicuous nucleoli, and clear to eosinophilic cytoplasm. (F) Increased mitotic activity (circles) up to 23/10 high-power field. (G) Diffuse strong nuclear positivity for TLE1. (H) Focal nuclear positivity for cyclin D1. (I) Diffuse cytoplasmic and membranous positivity for BCL2. (J) Diffuse membranous positivity for CD56. (K) No immunopositivity for CD99. (L) CD34 highlighted vascular networks.

• 

  Fig. 3. Patient clinical course after left radical nephrectomy. VAC/IE, vincristine, adriamycin, cyclophosphamide alternating with ifosfamide and etoposide; HD-IF, high-dose ifosfamide.

Reference

1. Sbaraglia M, Righi A, Gambarotti M, Dei Tos AP. Ewing sarcoma and Ewing-like tumors. Virchows Arch. 2020; 476:109–19. DOI: 10.1007/s00428-019-02720-8. PMID: 31802230.

2. Pierron G, Tirode F, Lucchesi C, et al. A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion. Nat Genet. 2012; 44:461–6. DOI: 10.1038/ng.1107. PMID: 22387997.

3. Hagoel TJ, Cortes Gomez E, Gupta A, et al. Clinicopathologic and molecular analysis of a BCOR-CCNB3 undifferentiated sarcoma of the kidney reveals significant epigenetic alterations. Cold Spring Harb Mol Case Stud. 2022; 8:a005942. DOI: 10.1101/mcs.a005942. PMID: 34819304.

4. Rekhi B, Kosemehmetoglu K, Ergen FB, et al. Spectrum of histopathological, immunohistochemical, molecular and radiological features in 12 cases of BCOR::CCNB3-positive sarcomas with literature review. Int J Surg Pathol. 2023; 31:1244–64. DOI: 10.1177/10668969221143467. PMID: 36591870.

5. Zhao M, Zhang Q, He X, Zhang D. Primary renal BCOR-CCNB3 fusion sarcoma: a case report and review of the literature. Urol Int. 2022; 106:644–8. DOI: 10.1159/000518563. PMID: 34515251.

6. Park S, Lee C, Ku BM, et al. Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer. BMB Rep. 2021; 54:386–91. DOI: 10.5483/bmbrep.2021.54.7.045. PMID: 34154699.

7. Choi JH, Ro JY. The 2020 WHO classification of tumors of soft tissue: selected changes and new entities. Adv Anat Pathol. 2021; 28:44–58. DOI: 10.1097/pap.0000000000000284. PMID: 32960834.

8. Yoshida A, Arai Y, Hama N, et al. Expanding the clinicopathologic and molecular spectrum of BCOR-associated sarcomas in adults. Histopathology. 2020; 76:509–20. DOI: 10.1111/his.14023. PMID: 31647130.

9. Argani P, Kao YC, Zhang L, et al. Primary renal sarcomas with BCOR-CCNB3 gene fusion: a report of 2 cases showing histologic overlap with clear cell sarcoma of kidney, suggesting further link between BCOR-related sarcomas of the kidney and soft tissues. Am J Surg Pathol. 2017; 41:1702–12. DOI: 10.1097/pas.0000000000000926. PMID: 28817404.

10. Setoodeh S, Palsgrove DN, Park JY, Pedrosa I, Kapur P, Jia L. Primary renal sarcoma with BCOR-CCNB3 gene fusion in an 18-year-old male: a rare lesion with a diagnostic quandary. Int J Surg Pathol. 2021; 29:194–7. DOI: 10.1177/1066896920941087. PMID: 32648496.

11. Wong MK, Ng CCY, Kuick CH, et al. Clear cell sarcomas of the kidney are characterised by BCOR gene abnormalities, including exon 15 internal tandem duplications and BCOR-CCNB3 gene fusion. Histopathology. 2018; 72:320–9. DOI: 10.1111/his.13366. PMID: 28833375.

12. Han H, Bertrand KC, Patel KR, et al. BCOR-CCNB3 fusion-positive clear cell sarcoma of the kidney. Pediatr Blood Cancer. 2020; 67:e28151. DOI: 10.1002/pbc.28151. PMID: 31876361.

13. Dorwal P, Abou-Seif C, Ng J, Super L, Chan Y, Rathi V. Clear cell sarcoma of the kidney (CCSK) with BCOR-CCNB3 fusion: a rare case report with a brief review of the literature. Pediatr Dev Pathol. 2023; 26:149–52. DOI: 10.1177/10935266221124377. PMID: 36533315.

14. Cohen-Gogo S, Cellier C, Coindre JM, et al. Ewing-like sarcomas with BCOR-CCNB3 fusion transcript: a clinical, radiological and pathological retrospective study from the Societe Francaise des Cancers de L'Enfant. Pediatr Blood Cancer. 2014; 61:2191–8. DOI: 10.1002/pbc.25210. PMID: 25176412.

15. Kao YC, Owosho AA, Sung YS, et al. BCOR-CCNB3 fusion positive sarcomas: a clinicopathologic and molecular analysis of 36 cases with comparison to morphologic spectrum and clinical behavior of other round cell sarcomas. Am J Surg Pathol. 2018; 42:604–15. DOI: 10.1097/pas.0000000000000965. PMID: 29300189.