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A nomogram for predicting the presence of germline mutations in pheochromocytomas and paragangliomas

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Abstract

Purpose

Up to 40% of patients with pheochromocytomas or paragangliomas (PPGLs) carry a germline mutation. This study aimed to build a nomogram using clinical information to predict the probability of germline mutation in PPGLs.

Methods

The data were collected from 563 patients who were diagnosed with PPGLs between 2002 and 2015. Clinical and pathologic features were assessed with a multivariable logistic regression analysis to predict the presence of germline mutations. A nomogram to predict the probability of germline mutation was constructed with R software. Discrimination and calibration were employed to evaluate the performance of the nomogram.

Results

By multivariate analysis, age at manifestation, bilateral, or multifocal tumors and family history were identified as independent predictors of the presence of any germline mutation. The nomogram was then developed using these three variables. The nomogram showed an area under the receiver operating characteristic curve (AUC) of 0. 841 (95% confidence interval [CI], 0.809–0.871). The calibration plot indicated that the nomogram-predicted probabilities compared very well with the actual probabilities (Hosmer–Lemeshow test: P = 0.888).

Conclusion

The nomogram is a valuable predictive tool for the presence of germline mutations in patients with PPGLs.

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Data availability

Materials and data are available from the corresponding author upon reasonable request.

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Funding

This study was supported by the grants from the National Natural Science Foundation of China (81730023). National International Science Cooperation Foundation (2015DFA30560). Science and Technology Commission of Shanghai Municipality (16JC1400803). Shanghai Sailing Program (19YF1429400).

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Author notes

  1. These authors contributed equally: Ting Wei Su, Xu Zhong

Authors and Affiliations

  1. Shanghai Clinical Center for Endocrine and Metabolic Diseases, Department of Endocrinology, Ruijin Hospital, Shanghai Jiaotong University, School of Medicine, 197 Ruijin 2nd Road, 200025, Shanghai, China

    Ting Wei Su, Xu Zhong, Lei Ye, Wei Song, Lei Jiang, Yiran Jiang, Weiwei Zhou, Cui Zhang, Luming Wu, Guang Ning & Weiqing Wang

  2. Shanghai Key Laboratory for Endocrine Tumors, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai, China

    Lei Ye, Guang Ning & Weiqing Wang

  3. Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

    Jing Xie

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  1. Ting Wei Su
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  2. Xu Zhong
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  3. Lei Ye
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Correspondence to Weiqing Wang.

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The study was approved by the Ethics Committee of the Ruijin Hospital, Shanghai Jiao Tong University School of Medicine.

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Su, T.W., Zhong, X., Ye, L. et al. A nomogram for predicting the presence of germline mutations in pheochromocytomas and paragangliomas. Endocrine 66, 666–672 (2019). https://doi.org/10.1007/s12020-019-02075-9

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  • DOI: https://doi.org/10.1007/s12020-019-02075-9

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