Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.
Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.
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DOI：
10.1038/modpathol.2017.12
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发表时间：
2017-06
期刊：
影响因子：
--
通讯作者：
Orr BA
中科院分区：
文献类型：
--
作者：
Santiago T;Clay MR;Allen SJ;Orr BA
婴儿原始黏液样间叶肿瘤是一种罕见的肉瘤，优先影响婴儿。它可以是局部侵袭性的，很少转移，但这种肿瘤的儿童的长期结果大多是未知的。组织学上，它的特征是原始细胞和丰富的粘液样基质。最近在肾透明细胞肉瘤、中枢神经系统高级别神经上皮肿瘤伴BCOR改变和婴儿原始粘液样间质肿瘤中发现了B细胞CLL/淋巴瘤6（BCL 6）相互作用辅阻遏物（BCOR）外显子15的内部串联重复。在此，我们报告5例婴儿原始黏液样间叶肿瘤：3名女孩和2名男孩，平均年龄为6.5个月。肿瘤位于椎旁区域（n=3）、背部（n=1）或足部（n=1），大小范围为2.5 - 10.2 cm。5例均经PCR和测序证实为BCOR-内部串联重复。最小重复区域由9个残基组成，这比以前在其他BCOR相关肿瘤中报道的要短。为了评估BCOR-内部串联重复的临床价值和特异性，对一组11例ETV 6重排的先天性婴儿纤维肉瘤进行了评价，在任何情况下均未发现BCOR-内部串联重复。虽然在先天性婴儿纤维肉瘤中未检测到BCOR和BCL 6免疫反应性，但在5例婴儿原始粘液样间叶细胞瘤中，BCOR和BCL 6免疫反应性均存在于>90%的肿瘤细胞核中。在所有5个婴儿原始粘液样间叶肿瘤中存在BCOR-内部串联重复提供了证据，证明它是一种复发性躯体异常，并证实了这种肿瘤确实是婴儿独特肉瘤的概念。我们的研究结果表明，识别BCOR内部串联重复和/或BCOR或BCL 6的核免疫反应性可以帮助诊断婴儿原始粘液样间叶肿瘤，并有助于与先天性婴儿纤维肉瘤鉴别。
Primitive myxoid mesenchymal tumor of infancy is a rare sarcoma that preferentially affects infants. It can be locally aggressive and rarely metastasizes, but the long-term outcome of children with this tumor is mostly unknown. Histologically, it is characterized by primitive cells with abundant myxoid stroma. Internal tandem duplication of B-cell CLL/lymphoma 6 (BCL6)-interacting co-repressor (BCOR) exon 15 has recently been described in clear cell sarcoma of kidney, central nervous system high-grade neuroepithelial tumor with BCOR alteration, and primitive myxoid mesenchymal tumor of infancy. Herein, we report 5 cases of primitive myxoid mesenchymal tumor of infancy: 3 girls and 2 boys with mean age of 6.5 months. Tumors were located in the paraspinal region (n=3), back (n=1), or foot (n=1) and ranged in size from 2.5 to 10.2 cm. BCOR-internal tandem duplication was confirmed by PCR and sequencing in all 5 cases. The minimally duplicated region consisted of 9 residues, which is shorter than was previously reported in others BCOR-associated tumors. To assess the clinical value and specificity of the BCOR-internal tandem duplication, a group of 11 ETV6-rearranged congenital infantile fibrosarcomas were evaluated and no BCOR-internal tandem duplication was identified in any case. Though not detected in congenital infantile fibrosarcomas, BCOR and BCL6 immunoreactivity was present in >90% of the nuclei of tumor cells in each of the 5 primitive myxoid mesenchymal tumor of infancy. The presence of BCOR-internal tandem duplication in all 5 primitive myxoid mesenchymal tumors of infancy provides evidence it is a recurrent somatic abnormality and substantiates the concept that indeed this tumor is a unique sarcoma of infancy. Our findings indicate that identification of BCOR-internal tandem duplication and/or nuclear immunoreactivity for BCOR or BCL6 can aid in the diagnosis of primitive myxoid mesenchymal tumor of infancy and help to differentiate it from congenital infantile fibrosarcoma.
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影响因子：
1.2
作者：
Guilbert, Marie-Christine;Rougemont, Anne-Laure;Bouron-Dal Soglio, Dorothee
通讯作者：
Bouron-Dal Soglio, Dorothee
影响因子：
--
作者：
Astolfi, Annalisa;Melchionda, Fraia;Pession, Andrea
通讯作者：
Pession, Andrea
影响因子：
5.6
作者：
Kao, Yu-Chien;Sung, Yun-Shao;Antonescu, Cristina R.
通讯作者：
Antonescu, Cristina R.
影响因子：
3.3
作者：
KODET, R;NEWTON, WA;GEHAN, EA
通讯作者：
GEHAN, EA
影响因子：
1.9
作者：
Foster, Jennifer H.;Vasudevan, Sanjeev A.;Chintagumpala, Murali
通讯作者：
Chintagumpala, Murali