SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.
SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors.
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DOI：
10.1038/modpathol.2010.185
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发表时间：
2011-01
期刊：
影响因子：
--
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中科院分区：
文献类型：
--
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肿瘤抑制基因SDHB、SDHC和SDHD（或统称SDHx）的突变导致遗传性副神经节瘤综合征，以嗜铬细胞瘤和副神经节瘤为特征。然而，其他肿瘤也与SDHx突变有关，如卡尼-斯特拉基斯综合征的胃肠道间质瘤（gist）。先前，我们已经证明SDHB免疫组织化学是一种可靠的技术，用于鉴定由SDHx突变引起的嗜铬细胞瘤和副神经节瘤。我们假设伴有SDHx突变的胃肠道间质瘤患者的SDHB免疫组织化学反应也为阴性。采用SDHB免疫组化方法对4例卡尼- stratakis综合征患者和6例卡尼三联症患者的胃肠道间质瘤进行研究。5例KIT或PDGFRA基因突变的gist患者作为对照。此外，对42例明显散发的gist进行SDHB免疫组化。在SDHB免疫组化阴性的病例中，进行SDHB、SDHC和SDHD的突变分析。卡尼- stratakis综合征和卡尼三联症患者的gist免疫组织化学检测均为SDHB阴性。在一例卡尼- stratakis综合征患者中，发现种系SDHB突变（p.Ser92Thr）。KIT或PDGFRA基因突变的5例gist均为SDHB免疫组化阳性。在42例散发性肿瘤中，1例GIST为sdhb阴性。该肿瘤的突变分析未发现SDHx突变。所有sdhb阴性的胃肠道间质瘤均位于胃内，呈上皮样形态，无KIT或PDGFRA突变。我们发现，与KIT或pdgfr突变的gist和大多数散发的gist相比，卡尼- stratakis综合征和卡尼-三合症相关的gist在SDHB免疫组化上呈阴性。我们建议对上皮样细胞形态的gist进行SDHB免疫组织化学检测。如果gist中SDHB染色阴性，应考虑卡尼- stratakis综合征或卡尼三联征，并应进行适当的临床监测。
Mutations in the tumor suppressor genes SDHB, SDHC, and SDHD (or collectively SDHx) cause the inherited paraganglioma syndromes, characterized by pheochromocytomas and paragangliomas. However, other tumors have been associated with SDHx mutations, such as gastrointestinal stromal tumors (GISTs) specifically in the context of Carney–Stratakis syndrome. Previously, we have shown that SDHB immunohistochemistry is a reliable technique for the identification of pheochromocytomas and paragangliomas caused by SDHx mutations. We hypothesized that GISTs in patients with SDHx mutations would be negative immunohistochemically for SDHB as well. Four GISTs from patients with Carney–Stratakis syndrome and six from patients with Carney triad were investigated by SDHB immunohistochemistry. Five GISTs with KIT or PDGFRA gene mutations were used as controls. In addition, SDHB immunohistochemistry was performed on 42 apparently sporadic GISTs. In cases in which the SDHB immunohistochemistry was negative, mutational analysis of SDHB, SDHC, and SDHD was performed. All GISTs from patients with Carney–Stratakis syndrome and Carney triad were negative for SDHB immunohistochemically. In one patient with Carney–Stratakis syndrome, a germline SDHB mutation was found (p.Ser92Thr). The five GISTs with a KIT or PDGFRA gene mutation were all immunohistochemically positive for SDHB. Of the 42 sporadic tumors, one GIST was SDHB-negative. Mutational analysis of this tumor did not reveal an SDHx mutation. All SDHB-negative GISTs were located in the stomach, had an epithelioid morphology, and had no KIT or PDGFRA mutations. We show that Carney–Stratakis syndrome- and Carney-triad-associated GISTs are negative by immunohistochemistry for SDHB in contrast to KIT- or PDGFRA-mutated GISTs and a majority of sporadic GISTs. We suggest that GISTs of epithelioid cell morphology are tested for SDHB immunohistochemically. In case of negative SDHB staining in GISTs, Carney–Stratakis syndrome or Carney triad should be considered and appropriate clinical surveillance should be instituted.
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影响因子：
5.3
作者：
Parfait, B;Chretien, D;Rustin, P
通讯作者：
Rustin, P
影响因子：
5.2
作者：
Pasini, Barbara;McWhinney, Sarah R.;Stratakis, Constantine A.
通讯作者：
Stratakis, Constantine A.
影响因子：
3.2
作者：
Srirangalingam, Umasuthan;Walker, Lisa;Chew, Shern L.
通讯作者：
Chew, Shern L.
DOI：
10.1093/jnci/djn254
发表时间：
2008-09-03
期刊：
JOURNAL OF THE NATIONAL CANCER INSTITUTE
影响因子：
--
作者：
Ricketts, Christopher;Woodward, Emma R.;Maher, Eamonn R.
通讯作者：
Maher, Eamonn R.
影响因子：
120.7
作者：
Neumann, HPH;Pawlu, C;Eng, C
通讯作者：
Eng, C