Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islet...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2017-01-01
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| Series: | Respiratory Medicine Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007116302167 |
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| author | Nobumasa Ohara Masanori Kaneko Masahiro Ikeda Fumio Ishizaki Kazuya Suzuki Ryo Maruyama Takeshi Komeyama Kazuhiro Sato Kenichi Togashi Hiroyuki Usuda Yuto Yamazaki Hironobu Sasano Kenzo Kaneko Kyuzi Kamoi |
| author_facet | Nobumasa Ohara Masanori Kaneko Masahiro Ikeda Fumio Ishizaki Kazuya Suzuki Ryo Maruyama Takeshi Komeyama Kazuhiro Sato Kenichi Togashi Hiroyuki Usuda Yuto Yamazaki Hironobu Sasano Kenzo Kaneko Kyuzi Kamoi |
| author_sort | Nobumasa Ohara |
| collection | DOAJ |
| description | Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islets, and parathyroid glands. Additionally, patients with MEN1 often exhibit adrenal tumors. Although most MEN1-associated tumors are benign, malignant lesions arising in these endocrine organs have been reported. Additionally, malignant diseases of non-endocrine organs concomitant with MEN1 have also been reported. Here, we report a rare case of a MEN1 patient who exhibited adrenocortical carcinoma (ACC) and lung adenocarcinoma (LAC).
A 53-year-old Japanese woman was diagnosed with genetically proven MEN1 that initially manifested as parathyroid, pancreatic, and adrenal tumors. During the course of the disease, she developed LAC harboring the epidermal growth factor receptor gene mutations and cortisol-secreting ACC. Both tumors were surgically resected. The tumor cells were immunohistochemically negative for menin.
Studies have suggested a causative link between MEN1 gene mutations and ACC, and menin expression may decrease in MEN1-related ACCs. In contrast, there are few reports suggesting a specific role of MEN1 gene mutations in LAC. Menin is often inactivated in the LACs of patients without MEN1. Thus, our patient's ACC probably occurred as part of MEN1, whereas the latter had no evident etiological association with her LAC. This case demonstrates the need for physicians to consider the potential development of malignant diseases originating from both endocrine and non-endocrine organs in MEN1 patients. |
| first_indexed | 2024-12-11T03:28:02Z |
| format | Article |
| id | doaj.art-a610ad9714354f20af48cfca1f796948 |
| institution | Directory Open Access Journal |
| issn | 2213-0071 |
| language | English |
| last_indexed | 2024-12-11T03:28:02Z |
| publishDate | 2017-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj.art-a610ad9714354f20af48cfca1f7969482022-12-22T01:22:28ZengElsevierRespiratory Medicine Case Reports2213-00712017-01-0120C778110.1016/j.rmcr.2016.12.002Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1Nobumasa Ohara0Masanori Kaneko1Masahiro Ikeda2Fumio Ishizaki3Kazuya Suzuki4Ryo Maruyama5Takeshi Komeyama6Kazuhiro Sato7Kenichi Togashi8Hiroyuki Usuda9Yuto Yamazaki10Hironobu Sasano11Kenzo Kaneko12Kyuzi Kamoi13Department of Endocrinology and Metabolism, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Endocrinology and Metabolism, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Urology, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Urology, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Urology, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Urology, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Urology, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Respiratory Medicine, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Thoracic Surgery, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Pathology, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Pathology, Tohoku University Graduate School of Medicine, Miyagi, JapanDepartment of Pathology, Tohoku University Graduate School of Medicine, Miyagi, JapanDepartment of Endocrinology and Metabolism, Nagaoka Red Cross Hospital, Niigata, JapanDepartment of Internal Medicine, Ojiya General Hospital, Niigata, JapanMultiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islets, and parathyroid glands. Additionally, patients with MEN1 often exhibit adrenal tumors. Although most MEN1-associated tumors are benign, malignant lesions arising in these endocrine organs have been reported. Additionally, malignant diseases of non-endocrine organs concomitant with MEN1 have also been reported. Here, we report a rare case of a MEN1 patient who exhibited adrenocortical carcinoma (ACC) and lung adenocarcinoma (LAC). A 53-year-old Japanese woman was diagnosed with genetically proven MEN1 that initially manifested as parathyroid, pancreatic, and adrenal tumors. During the course of the disease, she developed LAC harboring the epidermal growth factor receptor gene mutations and cortisol-secreting ACC. Both tumors were surgically resected. The tumor cells were immunohistochemically negative for menin. Studies have suggested a causative link between MEN1 gene mutations and ACC, and menin expression may decrease in MEN1-related ACCs. In contrast, there are few reports suggesting a specific role of MEN1 gene mutations in LAC. Menin is often inactivated in the LACs of patients without MEN1. Thus, our patient's ACC probably occurred as part of MEN1, whereas the latter had no evident etiological association with her LAC. This case demonstrates the need for physicians to consider the potential development of malignant diseases originating from both endocrine and non-endocrine organs in MEN1 patients.http://www.sciencedirect.com/science/article/pii/S2213007116302167Lung adenocarcinomaEpidermal growth factor receptor gene mutationAdrenocortical carcinomaMeninMultiple endocrine neoplasia type 1Immunohistochemistry |
| spellingShingle | Nobumasa Ohara Masanori Kaneko Masahiro Ikeda Fumio Ishizaki Kazuya Suzuki Ryo Maruyama Takeshi Komeyama Kazuhiro Sato Kenichi Togashi Hiroyuki Usuda Yuto Yamazaki Hironobu Sasano Kenzo Kaneko Kyuzi Kamoi Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 Respiratory Medicine Case Reports Lung adenocarcinoma Epidermal growth factor receptor gene mutation Adrenocortical carcinoma Menin Multiple endocrine neoplasia type 1 Immunohistochemistry |
| title | Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 |
| title_full | Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 |
| title_fullStr | Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 |
| title_full_unstemmed | Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 |
| title_short | Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 |
| title_sort | lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 |
| topic | Lung adenocarcinoma Epidermal growth factor receptor gene mutation Adrenocortical carcinoma Menin Multiple endocrine neoplasia type 1 Immunohistochemistry |
| url | http://www.sciencedirect.com/science/article/pii/S2213007116302167 |
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