Orbital Sarcoma with BCOR Genetic Alterations in the Pediatric Age Group.

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2024-11-01 Epub Date: 2024-09-08 DOI:10.1080/15513815.2024.2397399

Syed Saad Salman, Aanchal Kakkar, Seema Kashyap, Sameer Rastogi, Rachna Meel

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引用次数: 0

Abstract

Introduction: Pediatric orbital tumors encompass a wide spectrum of neoplasms, many of which are malignant small round cell tumors with overlapping histology. Sarcomas with BCOR genetic alterations are undifferentiated round cell sarcomas (URCS) characterized by BCOR rearrangements or internal tandem duplications, having distinct clinical features. Being previously unrecognized in the orbit, they have potential for misdiagnosis. Patients: We describe two cases of orbital sarcomas with BCOR genetic alterations. Results: Both girls, 8 and 16 months of age, respectively, presented with progressive proptosis. Both tumors showed sheets of round to ovoid cells with monomorphic nuclei and frequent mitoses. Delicate branching capillaries and myxoid stroma were absent. Diffuse BCOR, cyclin D1, and SATB2 immunopositivity was present. Conclusion: Orbital sarcomas with BCOR genetic alterations are extremely rare. Pathologists should have high index of suspicion for novel genetically defined entities in the differential diagnosis of pediatric orbital URCS and perform appropriate ancillary tests for accurate diagnosis.

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儿童年龄组中伴有BCOR基因改变的眼眶肉瘤

导言：小儿眼眶肿瘤包括多种肿瘤，其中许多是恶性小圆形细胞瘤，组织学结构相互重叠。具有 BCOR 基因改变的肉瘤是未分化圆细胞肉瘤（URCS），其特点是 BCOR 基因重排或内部串联重复，具有独特的临床特征。由于以前未在眼眶中发现，因此有可能被误诊。患者：我们描述了两例具有 BCOR 基因改变的眼眶肉瘤。病例结果两名女童分别为 8 个月和 16 个月大，均出现进行性突眼。两例肿瘤均呈片状圆形至卵圆形细胞，核单形，有丝分裂频繁。没有细小的毛细血管分支和肌样基质。肿瘤呈弥漫性BCOR、细胞周期蛋白D1和SATB2免疫阳性。结论是伴有BCOR基因改变的眼眶肉瘤极为罕见。病理学家在鉴别诊断小儿眼眶URCS时应高度怀疑新的基因定义实体，并进行适当的辅助检查以准确诊断。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.