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Current publications from Polish scientific journals are available through the Library of Science: https://bibliotekanauki.pl
Current publications from Polish scientific journals are available through the Library of Science: https://bibliotekanauki.pl
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Introduction: Paragangliomas are rare neuroendocrine tumors. A significant proportion of paragangliomas and pheochro-mocytomas occur sporadically, but in recent years, together with the identification of more than 20 mutations in the predisposing genes, the proportion of genetically determined cases diagnosed has increased.
Case presentation: The case report concerns a 22-year-old man who presented to his general practitioner after an episode of fainting in 2012. As a result of performed tests, a proliferative lesion was detected in the upper mediastinum. The lesion was removed in 2013 and the diagnosis of paraganglioma was made. Another paraganglioma-like lesion appeared in the retroperitoneal space and was removed in 2014, and another on the neck on the left side was removed in 2020. The patient was diagnosed with multiple pheochromocytoma and paraganglioma tumor syndrome with a mutation in the SDHD gene. The patient’s father was also diagnosed with a mutation in the SDHD gene and had two resections of neck paragangliomas within a few years. In 2022, a follow-up MRI revealed a focal lesion measuring 16 × 13 × 21 mm localized in the division of the right common carotid artery. During next hospitalization, the lesion was removed in its entirety, and histopathological examination revealed a paraganglioma-associated loss-of-function tumor in the SDHB gene (SDHB deficient).
Conclusions: Mutations in the SDHB and SDHD genes are associated with a higher risk of pheochromocytoma and paragan-glioma neuroendocrine tumors. Patients burdened with multiple pheochromocytomas and paragangliomas syndrome, with genetic mutations, require regular follow-up with imaging studies as well as multispecialty care.
Case presentation: The case report concerns a 22-year-old man who presented to his general practitioner after an episode of fainting in 2012. As a result of performed tests, a proliferative lesion was detected in the upper mediastinum. The lesion was removed in 2013 and the diagnosis of paraganglioma was made. Another paraganglioma-like lesion appeared in the retroperitoneal space and was removed in 2014, and another on the neck on the left side was removed in 2020. The patient was diagnosed with multiple pheochromocytoma and paraganglioma tumor syndrome with a mutation in the SDHD gene. The patient’s father was also diagnosed with a mutation in the SDHD gene and had two resections of neck paragangliomas within a few years. In 2022, a follow-up MRI revealed a focal lesion measuring 16 × 13 × 21 mm localized in the division of the right common carotid artery. During next hospitalization, the lesion was removed in its entirety, and histopathological examination revealed a paraganglioma-associated loss-of-function tumor in the SDHB gene (SDHB deficient).
Conclusions: Mutations in the SDHB and SDHD genes are associated with a higher risk of pheochromocytoma and paragan-glioma neuroendocrine tumors. Patients burdened with multiple pheochromocytomas and paragangliomas syndrome, with genetic mutations, require regular follow-up with imaging studies as well as multispecialty care.
Keywords
Publisher
Year
Volume
Issue
Pages
42-46
Physical description
Dates
published
2023
Contributors
author
author
author
author
author
author
References
Document Type
Publication order reference
Identifiers
Biblioteka Nauki
58810113
YADDA identifier
bwmeta1.element.ojs-doi-10_5604_01_3001_0053_4099
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