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

World journal of surgical oncology - 27 May 2024

Stawarz Katarzyna, Durzynska Monika, Galazka Adam, Paszkowska Monika, Bienkowska-Pluta Karolina, Zwolinski Jakub, Tysarowski Andrzej, Kwiatkowska Ewa, Podgorska Agnieszka

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38802890
DOI: 10.1186/s12957-024-03418-1
PMCID: PMC11129478

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