Myeloid sarcomas with CBFA2T3 : GLIS2 fusion: clinicopathologic characterization of 4 cases mimicking small round cell tumors.

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS

ACS Applied Bio Materials Pub Date : 2024-10-08 DOI:10.1093/ajcp/aqae131

Faizan Malik, Mohammad K Eldomery, Wei Wang, Gabriela Gheorghe, Mahsa Khanlari

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引用次数: 0

Abstract

Objectives: Acute myeloid leukemia with CBFA2T3::GLIS2 fusion can initially present as extramedullary lesions (myeloid sarcoma), leading to a misdiagnosis of nonhematologic pediatric solid tumors.

Methods: We characterized the clinicopathologic features of 4 cases of CBFA2T3::GLIS2 fusion-positive myeloid sarcoma in pediatric patients where the sarcoma presented either without leukemic involvement (isolated myeloid sarcoma; 3/4 [75%]) or had concurrent leukemic disease (1/4 [25%]).

Results: All cases mimicked nonhematopoietic tumors at morphologic and immunophenotypic levels, so the initial evaluation did not raise suspicion for acute myeloid leukemia/myeloid sarcoma. After extensive workup, however, including molecular studies, the diagnosis of myeloid sarcoma with CBFA2T3::GLIS2 fusion was rendered.

Conclusions: This study highlights the need for a high suspicion index of GLIS2-rearranged myeloid sarcoma in the differential diagnosis of pediatric small round cell tumors in tissue biopsies and the application of adequate workup to avoid misdiagnosing this entity.

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CBFA2T3：GLIS2融合的骨髓肉瘤：4例模仿小圆形细胞瘤的临床病理特征。

研究目的CBFA2T3::GLIS2融合的急性髓性白血病最初可能表现为髓外病变（髓样肉瘤），从而导致误诊为非血液病性儿科实体瘤：我们研究了4例CBFA2T3::GLIS2融合阳性髓样肉瘤儿科患者的临床病理特征，这些患者的肉瘤要么没有白血病累及（孤立性髓样肉瘤；3/4 [75%]），要么并发白血病（1/4 [25%]）：结果：所有病例在形态学和免疫表型上都与非造血肿瘤相似，因此初步评估并未怀疑是急性髓系白血病/髓系肉瘤。然而，经过广泛的检查，包括分子研究，最终确诊为CBFA2T3::GLIS2融合的髓系肉瘤：本研究强调，在组织活检中鉴别诊断小儿小圆形细胞瘤时，需要高度怀疑GLIS2重组髓系肉瘤，并进行充分的检查以避免误诊。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Bio Materials Chemistry-Chemistry (all)

CiteScore

9.40

自引率

2.10%

发文量

464