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Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study

  • Surgery in Low and Middle Income Countries
  • Published:
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Abstract

Objective

To compare clinical, biochemical, tumoural and mutational characteristics of Von Hippel Lindau Syndrome (VHL)-associated pheochromocytoma (PCC) to multiple endocrine neoplasia 2A (MEN2A)-associated pheochromocytoma.

Design

Retrospective study design in a tertiary health care centre in Northern India.

Methods

A total of 47 patients with biochemical and histologically proven pheochromocytoma/paraganglioma (PCC/PGL): 29 associated with VHL and 18 with MEN2A, were divided in two cohorts, respectively. Analysis of their medical records along with a prospective follow-up was done.

Results

There were more children <19 years in VHL group (13 vs 1). Despite majority of VHL-PCC showing elevation of normetanephrine (NMN) (93%) as compared to MEN2A-PCC (22.2%), 75.8% presented with hypertension as compared to MEN2A (33.3%). The average size of VHL-PCC tumours was 5.66 cm. VHL-PCC as compared to MEN2A-PCC were multifocal (75% vs 61.1%), bilateral synchronous (72.4 vs 61.1%) and extra-adrenal (17.2% vs 0%). Both VHL (24%) and MEN2A-PCC (27.7%) showed multiple nodules, but more MEN2A PCC showed extra-tumoural hyperplasia (44.4% vs. 6.8%). In VHL, the commonest mutation (n = 17) was missense mutation with a hot spot on exon 3, while in MEN2A-PCC majority (66.6%) had 634 mutation in exon 11 and only 2 patients had the rare 611 mutation in exon 10.

Conclusion

In contrast to world literature, our study suggests Indian VHL-PCC can be symptomatic in spite of noradrenergic phenotype, large in size and multifocal. Multiple nodules in VHL-PCC could increase risk of recurrence following subtotal adrenalectomy.

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Funding

This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

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Authors and Affiliations

  1. Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raibareli Rd, Lucknow, Uttar Pradesh, 226014, India

    Mallika Dhanda, Amit Agarwal, M. Sabaretnam, Gyan Chand, Anjali Mishra, Gaurav Agarwal & Saroj Kanta Mishra

  2. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raibareli Rd, Lucknow, Uttar Pradesh, 226014, India

    Kausik Mandal

  3. Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raibareli Rd, Lucknow, Uttar Pradesh, 226014, India

    Sushil Gupta

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  1. Mallika Dhanda
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  2. Amit Agarwal
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Correspondence to Amit Agarwal.

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Dhanda, M., Agarwal, A., Mandal, K. et al. Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study. World J Surg 46, 591–599 (2022). https://doi.org/10.1007/s00268-021-06393-w

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