Abstract

Malignant histiocytic neoplasm with histiocytic sarcoma phenotype is a rare malignant neoplasm, distinguished by malignant cells with phenotypic characteristics of mature tissue histiocytes. Histiocytic sarcoma typically presents as a primary malignancy, although can also present as a secondary malignancy, and is rarely seen in the pediatric population. Due to the rarity of this condition, diagnosis of histiocytic sarcoma is difficult and considered a diagnosis of exclusion. We describe a unique case of a chronic upper eyelid lesion with biopsy findings of a highly atypical histiocytic neoplasm initially concerning for histiocytic sarcoma; however, after integration of clinical findings, non-progressive and quiescent molecular profile, concluded to be an atypical juvenile xanthogranuloma in a child treated with excision and observation alone. This report highlights the importance of an integrated team approach to diagnosis of unusual histiocytic neoplasms.

摘要

具有组织细胞肉瘤表型的恶性组织细胞肿瘤是一种罕见的恶性肿瘤，以具有成熟组织组织细胞表型特征的恶性细胞为特征。组织细胞肉瘤通常表现为原发性恶性肿瘤，但也可表现为继发性恶性肿瘤，在儿科人群中很少见。由于这种情况的罕见，组织细胞肉瘤的诊断很困难，被认为是排除性诊断。我们描述了一个独特的慢性上眼睑病变病例，活检结果为高度非典型组织细胞肿瘤，最初与组织细胞肉瘤有关；然而，在综合临床发现、非进展性和静止性分子特征后，得出结论，该儿童是仅接受切除和观察治疗的非典型青少年黄色肉芽肿。