Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A) - case report

Sep 21, 2026

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Genetic testing is now standard for many hereditary cancers, yet simultaneous coexistence of two genetic diseases with overlapping symptoms remains uncommon. This case report describes two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1). After persistent neck tumors led to surgical removal and pathology-confirmed paragangliomas, genetic testing using targeted next-generation sequencing identified RET and SDHD mutations, followed by planned thyroidectomy in both cases.

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Abstract

Background

Case presentation

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Stawarz et al. World Journal of Surgical Oncology (2024) 22:139 [https://doi.org/10.1186/s12957-024-03418-1](https://doi.org/10.1186/s12957-024-03418-1) World Journal of Surgical Oncology CASE REPORT Open Access Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A) Katarzyna Stawarz1*, Monika Durzynska2, Adam Galazka1, Monika Paszkowska 1, Karolina Bienkowska‑Pluta 1, Jakub Zwolinski1, Andrzej Tysarowski3, Ewa Kwiatkowska3 and Agnieszka Podgorska3 Abstract Background In clinical practice, genetic testing has become standard for many cancerous diseases. While a diag‑ nosis of a single hereditary syndrome is not uncommon, the coexistence of two genetic diseases, even with partially common symptoms, remains unusual. Therefore, targeted next‑generation sequencing (NGS), along with genetic consultation and imaging studies, is essential for every patient with confirmed paraganglioma. In this report, we pre‑ sent two sisters diagnosed with multiple endocrine neoplasia type 2 (MEN2A) and familial paraganglioma syndrome type 1 (FPGL1) . Case presentation After presenting to the clinic with neck tumors persisting for several months, both patients underwent tumor removal procedures following imaging and laboratory studies. Pathological reports confirmed the diagnosis of paragangliomas. Subsequently, genetic testing, including NGS, revealed a mutation in the rearranged during transfection (RET) gene: the heterozygous change (c. 2410G >A),(p.Val804Met), and a variant of the succinate dehydrogenase complex subunit D (SDHD) gene: (c.64 C >T),(p.Arg22Ter) . Subsequently, thyroidectomy procedures were scheduled in both cases. Conclusion To the best of our knowledge, this is the first report presenting these two mutations in two related patients, resulting in distinctive genetic syndromes with similar manifestations. This underscores that although infre‑ quent, multiple hereditary disorders may co‑occur in the same individual. *Correspondence: Katarzyna Stawarz [katarzyna.stawarz@coi.pl](katarzyna.stawarz@coi.pl) 1 Head and Neck Cancer Department, Maria Sklodowska‑Curie National Research Institute of Oncology, ul. W. K. Roentgen 5, Warsaw 502‑781, Poland 2 Department of Pathology, Maria Sklodowska‑Curie National Research Institute of Oncology, ul. W. K. Roentgen 5, Warsaw 502‑781, Poland 3 Department of Genetics and Molecular Cancer Diagnostics, Maria Sklodowska‑Curie National Research Institute of Oncology, ul. W. K. Roentgen 5, Warsaw 502‑781, Poland Introduction In clinical practice, genetic testing is now the standard of care for numerous cancerous conditions. While a diagnosis of a single hereditary syndrome is not uncommon, the coexistence of multiple genetic diseases, even with partially common symptoms, remains unusual. The occurrence of an individual with two separate heritable conditions accounts for approximately 4.6 to 7% [1]. In these case scenarios, we have described two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2 (MEN2A). MEN2A represents 70–80% of all MEN2 © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this lice

FAQs

Why is genetic testing considered essential in suspected paraganglioma patients?

The report explains that genetic testing has become standard for many cancerous diseases. For confirmed paraganglioma, targeted next-generation sequencing with genetic consultation and imaging is essential for appropriate diagnosis and management.

What mutations were identified in the two sisters?

Genetic testing revealed a heterozygous RET mutation (c.2410G >A, p.Val804Met) and an SDHD gene variant (c.64 C >T, p.Arg22Ter).

How were the sisters diagnosed and treated after presenting with neck tumors?

Both patients underwent tumor removal after imaging and laboratory evaluation. Pathology confirmed paragangliomas, genetic testing followed, and thyroidectomy procedures were scheduled for both cases.

Sep 21, 2026

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