Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association
The case report outlines a 33-year-old woman with neurofibromatosis type 1 (NF1) presenting complex symptomatology including a cervical mass, bone pain and significantly elevated calcium and parathyroid hormone levels, indicative of parathyroid carcinoma accompanied by cystic fibrous osteitis. Intri...
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| Language: | English |
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Bioscientifica
2025-02-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
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| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0077.xml |
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| author | Jardelina Brena Rocha Leite Nicole Ramalho De Freitas Rafaella Nelice de Holanda Cardoso Erik Trovão Diniz Gabriel Rodrigues de Assis Ferreira Fernão Henrique Costa e Alvim Camila Ribeiro Coutinho Madruga Ana Carolina Thé Garrido Luciano Albuquerque Patricia Sampaio Gadelha Ruy Lyra Lucio Vilar |
| author_facet | Jardelina Brena Rocha Leite Nicole Ramalho De Freitas Rafaella Nelice de Holanda Cardoso Erik Trovão Diniz Gabriel Rodrigues de Assis Ferreira Fernão Henrique Costa e Alvim Camila Ribeiro Coutinho Madruga Ana Carolina Thé Garrido Luciano Albuquerque Patricia Sampaio Gadelha Ruy Lyra Lucio Vilar |
| author_sort | Jardelina Brena Rocha Leite |
| collection | DOAJ |
| description | The case report outlines a 33-year-old woman with neurofibromatosis type 1 (NF1) presenting complex symptomatology including a cervical mass, bone pain and significantly elevated calcium and parathyroid hormone levels, indicative of parathyroid carcinoma accompanied by cystic fibrous osteitis. Intriguingly, an incidental finding of an adrenal nodule prompted investigation, leading to the diagnosis of pheochromocytoma. Surgical intervention confirmed the presence of pheochromocytoma and parathyroid carcinoma. Genetic analysis corroborated NF1 with a pathogenic variant in the NF1 gene. The patient’s clinical manifestations, coupled with the presence of café-au-lait spots and axillary freckles, supported the diagnosis of NF1. This case not only highlights the challenging diagnostic landscape of NF1 but also underscores the rarity of the co-occurrence of parathyroid carcinoma and pheochromocytoma within the context of NF1. It emphasizes the necessity for heightened clinical suspicion and comprehensive evaluation in patients with NF1, particularly in those presenting with endocrine abnormalities. Further investigation into the underlying mechanisms linking these conditions is warranted to elucidate their pathophysiological interplay and inform optimal therapeutic strategies for affected individuals. This case underscores the importance of multidisciplinary collaboration in the management of complex NF1-associated manifestations, with an emphasis on early detection and tailored intervention to optimize patient outcomes. |
| format | Article |
| id | doaj-art-df7e2bf12d0f4c9a98d397933dc05352 |
| institution | Kabale University |
| issn | 2052-0573 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj-art-df7e2bf12d0f4c9a98d397933dc053522025-02-11T12:31:41ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732025-02-012025110.1530/EDM-24-00771Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare associationJardelina Brena Rocha Leite0Nicole Ramalho De Freitas1Rafaella Nelice de Holanda Cardoso2Erik Trovão Diniz3Gabriel Rodrigues de Assis Ferreira4Fernão Henrique Costa e Alvim5Camila Ribeiro Coutinho Madruga6Ana Carolina Thé Garrido7Luciano Albuquerque8Patricia Sampaio Gadelha9Ruy Lyra10Lucio Vilar11Universidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilUniversidade Federal de Pernambuco, Recife, BrazilThe case report outlines a 33-year-old woman with neurofibromatosis type 1 (NF1) presenting complex symptomatology including a cervical mass, bone pain and significantly elevated calcium and parathyroid hormone levels, indicative of parathyroid carcinoma accompanied by cystic fibrous osteitis. Intriguingly, an incidental finding of an adrenal nodule prompted investigation, leading to the diagnosis of pheochromocytoma. Surgical intervention confirmed the presence of pheochromocytoma and parathyroid carcinoma. Genetic analysis corroborated NF1 with a pathogenic variant in the NF1 gene. The patient’s clinical manifestations, coupled with the presence of café-au-lait spots and axillary freckles, supported the diagnosis of NF1. This case not only highlights the challenging diagnostic landscape of NF1 but also underscores the rarity of the co-occurrence of parathyroid carcinoma and pheochromocytoma within the context of NF1. It emphasizes the necessity for heightened clinical suspicion and comprehensive evaluation in patients with NF1, particularly in those presenting with endocrine abnormalities. Further investigation into the underlying mechanisms linking these conditions is warranted to elucidate their pathophysiological interplay and inform optimal therapeutic strategies for affected individuals. This case underscores the importance of multidisciplinary collaboration in the management of complex NF1-associated manifestations, with an emphasis on early detection and tailored intervention to optimize patient outcomes.https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0077.xmlendocrine cancersrare diseases/syndromesneuroendocrinologyadrenalcalcium |
| spellingShingle | Jardelina Brena Rocha Leite Nicole Ramalho De Freitas Rafaella Nelice de Holanda Cardoso Erik Trovão Diniz Gabriel Rodrigues de Assis Ferreira Fernão Henrique Costa e Alvim Camila Ribeiro Coutinho Madruga Ana Carolina Thé Garrido Luciano Albuquerque Patricia Sampaio Gadelha Ruy Lyra Lucio Vilar Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association Endocrinology, Diabetes & Metabolism Case Reports endocrine cancers rare diseases/syndromes neuroendocrinology adrenal calcium |
| title | Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association |
| title_full | Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association |
| title_fullStr | Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association |
| title_full_unstemmed | Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association |
| title_short | Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association |
| title_sort | parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1 a rare association |
| topic | endocrine cancers rare diseases/syndromes neuroendocrinology adrenal calcium |
| url | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0077.xml |
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