Biphenotypic sinonasal sarcoma: an expanded immunoprofile including consistent nuclear β-catenin positivity and absence of SOX10 expression.
Biphenotypic sinonasal sarcoma: an expanded immunoprofile including consistent nuclear β-catenin positivity and absence of SOX10 expression.
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DOI：
10.1016/j.humpath.2016.04.009
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发表时间：
2016-09
期刊：
影响因子：
3.3
通讯作者：
Bishop JA
中科院分区：
文献类型：
--
作者：
Rooper LM;Huang SC;Antonescu CR;Westra WH;Bishop JA
双表型鼻腔鼻窦肉瘤是一种新近发现的低度恶性肿瘤，同时具有神经和肌源性分化。这种独特的双重表型源于PAX 3的经常性重排，PAX 3是一种促进两种谱系沿着定型的转录因子。虽然通过荧光原位杂交（FISH）鉴定PAX 3重排可以确认BSNS诊断，但这种检测方法并不广泛使用。本研究评估是否扩大免疫组化面板可以促进识别BSNS分子分析。从两个学术医学中心的外科病理档案中确定了11例BSNS。在8例病例中，使用PAX 3的定制探针通过FISH证实了诊断。在3例FISH失败，但组织学和免疫表型结果诊断BSNS。所有11例BSNS（100%）均至少局灶性S100以及钙调蛋白和/或平滑肌肌动蛋白阳性。此外，10/11例（91%）表达核β-连环蛋白，8/10例（80%）表达因子XIIIa，4/11例（36%）表达结蛋白，3/10例（30%）表达肌细胞生成素。所有11个肿瘤均为SOX 10阴性。虽然没有单一的标志物解决BSNS和其组织学模拟物（如神经鞘瘤）之间的免疫组化重叠，但包括β-连环蛋白和SOX 10的扩展免疫组化面板有助于支持BSNS的诊断，而无需基因重排研究。
Biphenotypic sinonasal sarcoma (BSNS) is a recently recognized low-grade sarcoma that exhibits both neural and myogenic differentiation. This unique dual phenotype stems from recurrent rearrangements in PAX3, a transcription factor that promotes commitment along both lineages. While identification of PAX3 rearrangements by fluorescence in situ hybridization (FISH) can confirm a BSNS diagnosis, this assay is not widely available. This study evaluates whether an expanded immunohistochemical panel can facilitate recognition of BSNS without molecular analysis. Eleven cases of BSNS were identified from the surgical pathology archives of two academic medical centers. In 8 cases, the diagnosis was confirmed by FISH using custom probes for PAX3. In 3 cases FISH failed but histologic and immunophenotypic findings were diagnostic for BSNS. All 11 BSNS (100%) were at least focally positive for S100 as well as calponin and/or smooth muscle actin. In addition, 10 of 11 (91%) expressed nuclear β-catenin, 8 of 10 (80%) expressed factor XIIIa, 4 of 11 (36%) expressed desmin, and 3 of 10 (30%) expressed myogenin. All 11 tumors were negative for SOX10. While no single marker resolves immunohistochemical overlap between BSNS and its histologic mimickers such as nerve sheath tumors, an extended immunohistochemical panel that includes β-catenin and SOX10 helps to support the diagnosis of BSNS without the need for gene rearrangement studies.