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通过S-（2-琥珀酰）-半胱氨酸染色检测富马酸水合酶缺失和异常蛋白质琥珀酰化，以识别多发性皮肤和子宫平滑肌瘤病以及遗传性平滑肌瘤病和肾细胞癌综合征患者。

Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.

作者信息

Llamas-Velasco Mar, Requena Luis, Adam Julie, Frizzell Norma, Hartmann Arndt, Mentzel Thomas

机构信息

*Department of Dermatology, Hospital De La Princesa, Madrid, Spain; †Department of Dermatology, Fundación Jimenez Diaz, Madrid, Spain; ‡Department of Pathology, Henry Wellcome Building for Molecular Physiology, University of Oxford, Oxford, United Kingdom; §Department of Pharmacology, Physiology and Neurosciences, School of Public Health, University of South Carolina, Columbia, SC; ¶Institute of Pathology, University of Erlangen-Nürnberg, Erlangen, Germany; and ‖Dermatopathologie Friedrichshafen, Friedrichshafen, Germany.

出版信息

Am J Dermatopathol. 2016 Dec;38(12):887-891. doi: 10.1097/DAD.0000000000000580.

DOI:10.1097/DAD.0000000000000580

PMID:27097334

Abstract

AIMS

Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is an autosomal dominant disorder caused by heterozygotic germline mutations in fumarate hydratase (FH) with incomplete penetrance, and clinically challenging to diagnose. Immunohistochemical stainings may favor an earlier diagnosis.

METHODS AND RESULTS

The authors have tested 31 smooth muscle neoplasms. Ten of the 13 lesions from patients with HLRCC syndrome showed negative FH staining. Most sporadic piloleiomyomas presented strongly positive FH staining although 5 cases were negative. Sensitivity of FH staining in our series is 83.3% but specificity is 75%. Anti-S-(2-succino)-cysteine (2SC) showed the opposite intensity staining pattern and showed great correlation with anti-FH (rho spearman = -0.797). Anti-2SC staining increased the diagnostic accuracy in 19% of the cases.

LIMITATIONS

The main limitation of this study is the lack additional clinical data to further classify the cases as the case inclusion was histopathological.

CONCLUSIONS

Negative FH staining could indicate a high risk of HLRCC but it could also suggest the presence of a syndrome in up to 25% of sporadic cases. Thus, when there is a doubtful case, anti-2SC may be added to exclude the syndrome if a negative staining is found.

摘要

目的

遗传性平滑肌瘤病和肾细胞癌（HLRCC）综合征是一种常染色体显性疾病，由延胡索酸水合酶（FH）的杂合子种系突变引起，具有不完全外显率，临床诊断具有挑战性。免疫组织化学染色可能有助于早期诊断。

方法与结果

作者检测了31例平滑肌肿瘤。HLRCC综合征患者的13个病变中有10个显示FH染色阴性。大多数散发性毛发平滑肌瘤呈现强阳性FH染色，尽管有5例为阴性。在我们的系列研究中，FH染色的敏感性为83.3%，但特异性为75%。抗S-(2-琥珀酰基)-半胱氨酸（2SC）显示出相反的染色强度模式，并且与抗FH显示出高度相关性（斯皮尔曼相关系数rho=-0.797）。抗2SC染色在19%的病例中提高了诊断准确性。