hSNFS/INII-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities
hSNFS/INII-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities
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DOI：
10.1002/path.2103
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发表时间：
2007-02-01
影响因子：
7.3
通讯作者：
Delattre, O.
中科院分区：
文献类型：
--
作者：
Bourdeaut, F.;Freneaux, P.;Delattre, O.
横纹肌样瘤（RTs）是一种罕见但高度侵袭性的儿童肿瘤。它们的罕见性和复杂的位置使得诊断对病理学家来说特别具有挑战性。中枢神经系统和外周RT与hSNF 5/INI 1/SMARCB 1（hSNF 5/INI 1）肿瘤抑制基因的双等位基因失活相关。免疫组织化学（IHC）与单克隆抗hSNF 5/INI 1抗体最近已被提出作为一种有效的诊断工具RT。我们进行了一项回顾性研究，55例肿瘤转介到我们的机构与RT的怀疑。这一分析包括病理审查，免疫组化与抗hSNF 5/INI 1抗体，和分子研究使用定量DNA荧光分析和测序的hSNF 5/INI 1的9个外显子。在39例hSNF 5/INI 1染色阴性的病例中，37例可检测到分子病变。在两例不一致的病例中，未检测到遗传异常可能是由于样品中存在大量非肿瘤细胞。这表明hSNF 5/INI 1 IHC对于检测hSNF 5/INI 1功能丧失非常灵敏且高度特异。在38例具有典型RT组织学特征的肿瘤中，6例hSNF 5/INI 1未发生突变，而hSNF 5/INI 1染色阳性，这有力地支持了与RT相关的不同于hSNF 5/INI 1的第二个遗传位点的证据。然而，它们表现出与RT相似的发病年龄和临床行为。这表明hSNF 5/INI 1失活并不严格限于典型的RT，而是更广泛的hSNF 5/INI 1缺陷肿瘤家族的特征。因此，我们认为，抗hSNF 5/INI 1 IHC应广泛进行，即使在病理特征不典型的情况下。当怀疑为横纹肌样倾向综合征时，应在婴儿中进行分子学研究。版权所有（c）2006大不列颠和爱尔兰病理学会。出版社：John Wiley & Sons，Ltd
Rhabdoid tumours (RTs) are rare but highly aggressive tumours of childhood. Their rarity and their miscellaneous locations make the diagnosis particularly challenging for pathologists. Central nervous system and peripheral RTs have been associated with biallelic inactivation of the hSNF5/INI1/SMARCB1 (hSNF5/INI1) tumour suppressor gene. Immunohistochemistry (IHC) with a monoclonal anti-hSNF5/INI1 antibody has recently been proposed as an efficient diagnostic tool for RTs. We have conducted a retrospective study of 55 tumours referred to our institution with a suspicion of RT. This analysis included pathological review, IHC with anti-hSNF5/INI1 antibody, and molecular investigation using quantitative DNA fluorescent analysis and sequencing of the nine exons of hSNF5/INI1. The molecular lesion could be detected in 37 of the 39 cases exhibiting negative staining for hSNF5/INI1 In the two discrepant cases, the lack of detection of genetic abnormality was probably owing to the presence of a high number of non-tumour cells in the samples. This indicates that hSNF5/INI1 IHC is very sensitive and highly specific for the detection of hSNF5/INI1 loss-of-function. Among the 38 cases with typical RT histological features, six failed to exhibit hSNF5/INI1 mutation and stained positive for hSNF5/INI1 This strongly supports the evidence of a second genetic locus, distinct from hSNF5/INI1, associated with RT. Conversely, seven tumours with histological features poorly compatible with RT stained negative for hSNF5/INI1; they nevertheless exhibited an age of onset and a clinical behaviour similar to RT. This suggests that hSNF5/INI1 inactivation is not strictly limited to typical RT but characterizes a wider family of hSNF5/INI1-deficient tumours. Consequently, we believe that anti-hSNF5/INI1 IHC should be performed widely, even when the pathological characteristics are not typical. The molecular investigation should be performed in infants when a rhabdoid predisposition syndrome is suspected. Copyright (c) 2006 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.