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Endocrine

pp 1–7 | Cite as

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

  • Ting Wei Su
  • Xu Zhong
  • Lei Ye
  • Wei Song
  • Lei Jiang
  • Jing Xie
  • Yiran Jiang
  • Weiwei Zhou
  • Cui Zhang
  • Luming Wu
  • Guang Ning
  • Weiqing WangEmail author
Original Article
  • 18 Downloads

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.

Keywords

Pheochromocytomas Paragangliomas Germline mutation 

Notes

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).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

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

Informed consent

All patients gave their written informed consent.

Supplementary material

12020_2019_2075_MOESM1_ESM.xlsx (18 kb)
Supplementary Table 1.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Ting Wei Su
    • 1
  • Xu Zhong
    • 1
  • Lei Ye
    • 1
    • 2
  • Wei Song
    • 1
  • Lei Jiang
    • 1
  • Jing Xie
    • 3
  • Yiran Jiang
    • 1
  • Weiwei Zhou
    • 1
  • Cui Zhang
    • 1
  • Luming Wu
    • 1
  • Guang Ning
    • 1
    • 2
  • Weiqing Wang
    • 1
    • 2
    Email author
  1. 1.Shanghai Clinical Center for Endocrine and Metabolic Diseases, Department of Endocrinology, Ruijin HospitalShanghai Jiaotong University, School of MedicineShanghaiChina
  2. 2.Shanghai Key Laboratory for Endocrine TumorsShanghai Institute of Endocrine and Metabolic DiseasesShanghaiChina
  3. 3.Department of Pathology, Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghaiChina

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