PAX2(-)/PAX8(-)/Inhibin A(+) Immunoprofile in Hemangioblastoma: A Helpful Combination in the Differential Diagnosis With Metastatic Clear Cell Renal Cell Carcinoma to the Central Nervous System
PAX2(-)/PAX8(-)/Inhibin A(+) Immunoprofile in Hemangioblastoma: A Helpful Combination in the Differential Diagnosis With Metastatic Clear Cell Renal Cell Carcinoma to the Central Nervous System
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DOI：
10.1097/pas.0b013e3182064d11
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发表时间：
2011-02-01
影响因子：
5.6
通讯作者：
Netto, George J.
中科院分区：
文献类型：
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作者：
Carney, Erin M.;Banerjee, Priya;Netto, George J.
背景：血管母细胞瘤占所有颅内肿瘤的2.5%。它们可能是零星发生的，也可能是冯·希佩尔-林道综合征(VHL)多系统遗传综合征的一部分。VHL患者患肾透明细胞癌(CcRCC)的风险也增加。仅根据苏木精-伊红染色切片，区分血管母细胞瘤与转移性肾小细胞癌至中枢神经系统(CNS)有时是具有挑战性的。我们建议将PAX2、PAX8和抑制素A的免疫组织化学(IHC)结合起来，作为区分这两种肿瘤的有用方法。设计：20例血管母细胞瘤和16例转移到中枢神经系统的肾小细胞癌的档案组织取自我们的手术病理资料(2001-2010)。PAX2、PAX8和抑制素A的IHC在常规或组织微阵列切片上进行，使用标准的IHC程序。对每个标记物的核染色强度进行评估，并指定递增的0、1+、2+和3+分数。结果：(1)血管母细胞瘤：16例患者中有4例(25%)诊断为Von Hippel-Lindau综合征，其中2例发展为多发性血管母细胞瘤。20例血管母细胞瘤全部(100%)胞浆抑制素A阳性。19例(95%)染色强度为中或强(2+或3+)，均为多灶性或弥漫性。在19个可评估的病变中有1个(5%)有核PAX2染色，而在20个检查的病变中没有任何一个PAX8染色。(2)癌转移至中枢神经系统：16例肾癌中，PAX2阳性14例(88%)，PAX8阳性15例(94%)。16例(0%)肾小细胞癌中无一例抑制素A阳性。结论：PAX2、PAX8和抑制素A联合检测有助于鉴别血管母细胞瘤和转移性肾细胞癌。PAX2(+)或PAX8(+)和抑制素A(-)的免疫学特征支持转移性肾细胞癌的诊断，其敏感性为94%，特异性为100%，阳性预测值为100%。PAX2(-)、PAX8(-)和抑制素A(+)支持血管母细胞瘤的诊断，敏感性为95%，特异性为100%，阳性预测值为100%。
Background: Hemangioblastomas account for up to 2.5% of all intracranial tumors. They may occur sporadically or as a part of the multisystem genetic syndrome of Von Hippel-Lindau syndrome (VHL). Patients with VHL are also at an increased risk of developing clear cell renal cell carcinoma (ccRCC). Distinguishing hemangioblastomas from metastatic ccRCC to the central nervous system (CNS) can be challenging at times when based solely on hematoxylin and eosin-stained sections. We propose an immunohistochemistry (IHC) panel of combination of PAX2, PAX8, and inhibin A as a helpful approach in distinguishing the 2 lesions.Design: Archival tissues from 20 hemangioblastomas and 16 ccRCCs metastatic to the CNS were retrieved from our surgical pathology files (2001 to 2010). IHC for PAX2, PAX8, and inhibin A was performed on routine or tissue microarray sections using standard IHC protocol. The intensity of nuclear staining was evaluated for each marker and was assigned an incremental 0, 1+, 2+, and 3+ score. The extent of staining was categorized as focal (75%).Result: (1) Hemangioblastoma: The Von Hippel-Lindau syndrome was diagnosed in 4 of 16 (25%) patients, 2 of whom developed multiple hemangioblastomas. All 20 (100%) hemangioblastomas were positive for inhibin A (cytoplasmic). The staining intensity was moderate or strong (2+ or 3+) in 19 cases (95%), all of which were multifocal or diffuse in extent. Nuclear PAX2 staining was present in 1 of 19 evaluable lesions (5%), whereas PAX8 staining was not present in any of the 20 examined lesions. (2) Metastatic ccRCC to the CNS: Fourteen of 16 (88%) examined ccRCCs were positive for PAX2, whereas 15 of 16 (94%) lesions showed PAX8 staining. None of 16 (0%) examined ccRCCs were positive for inhibin A.Conclusions: We propose the use of the combination of PAX2, PAX8, and inhibin A as a helpful ancillary IHC panel to resolve the differential diagnosis of hemangioblastoma versus metastatic ccRCC. The immunoprofile of PAX2(+) or PAX8(+) and inhibin A(-) supports the diagnosis of metastatic ccRCC with a sensitivity of 94%, specificity of 100%, and positive predictive value of 100%. The PAX2(-), PAX8(-), and inhibin A(+) profile supports the diagnosis of hemangioblastoma with a sensitivity of 95%, specificity of 100%, and positive predictive value of 100%.