Decoding BCOR-ITD Sarcomas: Case Report of a Rare Pediatric Tumor With Challenges in Diagnosis.

IF 1.3 4区 医学 Q3 PATHOLOGY Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-05-19 DOI:10.1177/10935266241249344
Emilio Medina-Ceballos, María Niveiro, Laura Ureña-Horno, Marta Sesé, María Tasso, Samuel Navarro, Marta Garrido-Pontnou
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Abstract

Sarcomas characterized by BCOR gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without EWSR or FUS fusion. Diverse genetic alterations characterize this group, including BCOR-CCNB3 gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting BCOR-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting BCOR-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.

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解码 BCOR-ITD 肉瘤:一种罕见儿科肿瘤的病例报告与诊断挑战。
以 BCOR 基因改变为特征的肉瘤是一类独特的临床病理学高级别肿瘤,占无 EWSR 或 FUS 融合的小圆形细胞肿瘤的 5%。这类肿瘤的基因改变多种多样,其中 BCOR-CCNB3 基因融合是最常见的改变,而内部串联重复(ITD)则较少见。我们介绍了一例引人注目的病例,一名 3 岁女童被诊断为高级别鼻齿状肉瘤,表现为 BCOR-ITD。诊断过程展示了组织学和免疫表型谱,需要广泛的免疫组化检查和多种分子检测才能准确分类。此外,该病例还强调了使用不同的 NGS 面板检测 BCOR-ITD 所面临的挑战,提倡采用其他分子方法。我们的患者在确诊 10 个月后仍然存活,病情仍在进展。这凸显了对这些罕见侵袭性肿瘤进行持续研究以完善诊断方法和开发有效治疗策略的紧迫性。
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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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