Two sisters diagnosed with familial paraganglioma syndrome type 1

Background In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis 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 sequ...

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Bibliographic Details
Published in:World journal of surgical oncology 2024-05, Vol.22 (1)
Main Authors: Stawarz, Katarzyna, Durzynska, Monika, Galazka, Adam, Paszkowska, Monika, Bienkowska-Pluta, Karolina, Zwolinski, Jakub, Tysarowski, Andrzej, Kwiatkowska, Ewa, Podgorska, Agnieszka
Format: Article
Language:English
Subjects:
Adenomatosis, Familial endocrine
Diagnosis
DNA sequencing
Familial diseases
Genetic aspects
Genetic screening
Methods
Nucleotide sequencing
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Summary:Background In clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis 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 present 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 infrequent, multiple hereditary disorders may co-occur in the same individual.
ISSN:1477-7819
1477-7819
DOI:10.1186/s12957-024-03418-1