Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report
Pheochromocytoma is a neuroendocrine neoplasm that originates from chromaffin cells of the adrenal medulla. Langerhans cell histiocytosis (LCH) is a proliferative disease of histiocyte-like cells, often associated with activating mutations of the mitogen-activated protein kinase (MAPK) pathway. We p...
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Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1494783/full |
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| author | Dandan Dai Jing Xie |
| author_facet | Dandan Dai Jing Xie |
| author_sort | Dandan Dai |
| collection | DOAJ |
| description | Pheochromocytoma is a neuroendocrine neoplasm that originates from chromaffin cells of the adrenal medulla. Langerhans cell histiocytosis (LCH) is a proliferative disease of histiocyte-like cells, often associated with activating mutations of the mitogen-activated protein kinase (MAPK) pathway. We present a case of a 49-year-old male with a history of pheochromocytoma, which metastasized to the inferior vena cava eight years after left adrenalectomy. At the same time, it was found that the pheochromocytoma in the metastasis was complicated with LCH, a combination that has not been previously reported. Genetic analysis was carried out by next-generation sequencing (NGS) technology. Somatic mutations of BRAF and RAD54B were detected in Langerhans cells and EPAS1 in pheochromocytoma. |
| format | Article |
| id | doaj-art-d26e8043c88648129eed33514a72cfbf |
| institution | OA Journals |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-d26e8043c88648129eed33514a72cfbf2025-08-20T02:09:24ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-04-011610.3389/fendo.2025.14947831494783Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case reportDandan DaiJing XiePheochromocytoma is a neuroendocrine neoplasm that originates from chromaffin cells of the adrenal medulla. Langerhans cell histiocytosis (LCH) is a proliferative disease of histiocyte-like cells, often associated with activating mutations of the mitogen-activated protein kinase (MAPK) pathway. We present a case of a 49-year-old male with a history of pheochromocytoma, which metastasized to the inferior vena cava eight years after left adrenalectomy. At the same time, it was found that the pheochromocytoma in the metastasis was complicated with LCH, a combination that has not been previously reported. Genetic analysis was carried out by next-generation sequencing (NGS) technology. Somatic mutations of BRAF and RAD54B were detected in Langerhans cells and EPAS1 in pheochromocytoma.https://www.frontiersin.org/articles/10.3389/fendo.2025.1494783/fullLangerhans cell histiocytosispheochromocytomametastasiscase reportEPAS1 gene |
| spellingShingle | Dandan Dai Jing Xie Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report Frontiers in Endocrinology Langerhans cell histiocytosis pheochromocytoma metastasis case report EPAS1 gene |
| title | Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report |
| title_full | Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report |
| title_fullStr | Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report |
| title_full_unstemmed | Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report |
| title_short | Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report |
| title_sort | metastatic pheochromocytoma complicated with langerhans cell histiocytosis a case report |
| topic | Langerhans cell histiocytosis pheochromocytoma metastasis case report EPAS1 gene |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1494783/full |
| work_keys_str_mv | AT dandandai metastaticpheochromocytomacomplicatedwithlangerhanscellhistiocytosisacasereport AT jingxie metastaticpheochromocytomacomplicatedwithlangerhanscellhistiocytosisacasereport |