Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report
Abstract Background Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). The clinical characteristics of hereditary PPGL are varying among the types of mutational genes. It is still difficult to specify the pathognomonic symptoms...
Saved in:
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Japan Surgical Society
2017-12-01
|
| Series: | Surgical Case Reports |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40792-017-0408-x |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850045376294289408 |
|---|---|
| author | Masahiro Shibata Takahiro Inaishi Noriyuki Miyajima Yayoi Adachi Yuko Takano Kenichi Nakanishi Dai Takeuchi Sumiyo Noda Yuichi Aita Kazuhiro Takekoshi Yasuhiro Kodera Toyone Kikumori |
| author_facet | Masahiro Shibata Takahiro Inaishi Noriyuki Miyajima Yayoi Adachi Yuko Takano Kenichi Nakanishi Dai Takeuchi Sumiyo Noda Yuichi Aita Kazuhiro Takekoshi Yasuhiro Kodera Toyone Kikumori |
| author_sort | Masahiro Shibata |
| collection | DOAJ |
| description | Abstract Background Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). The clinical characteristics of hereditary PPGL are varying among the types of mutational genes. It is still difficult to specify the pathognomonic symptoms in the case of rare genetic mutations. Here, we report the case of synchronous bilateral pheochromocytomas and paraganglioma with novel MYC associated factor X (MAX) gene mutation. Case presentation A 24-year-old female had hyperhidrosis and hypertension. Her urine test showed high normetanephrine and vanillylmandelic acid. Enhanced computed tomography revealed three enhanced masses in right adrenal gland, left adrenal gland, and left renal hilus. She was diagnosed with PPGL. Because 123I-metaiodobenzylguanidine scintigraphy indicated the accumulations in the left adrenal gland mass and the left renal hilus mass and not in the right adrenal gland mass, we performed laparoscopic left adrenalectomy and extirpation of the left renal hilus mass to preserve the right adrenocortical function. However, her symptoms recurred shortly after the operation presumably due to unveiling of the activity of the right pheochromocytoma. Following right adrenalectomy as the second operation, the catecholamine levels declined to normal range. Her genetic testing indicated the novel germline mutation in MAX gene (c.70_73 del AAAC/p.Lys24fs*40). Conclusions MAX germline mutation is recently identified as a rare cause of hereditary PPGL. The deletion mutation in MAX gene in this patient has never reported before. In the case of bilateral pheochromocytomas, the surgical indication should be decided considering each patient’s genetic background. Due to the possibility for other types of malignant tumors, close follow-up is essential for MAX mutation carriers. |
| format | Article |
| id | doaj-art-c701c7ebcf2c4ba1806bfffac5c3ae6b |
| institution | DOAJ |
| issn | 2198-7793 |
| language | English |
| publishDate | 2017-12-01 |
| publisher | Japan Surgical Society |
| record_format | Article |
| series | Surgical Case Reports |
| spelling | doaj-art-c701c7ebcf2c4ba1806bfffac5c3ae6b2025-08-20T02:54:42ZengJapan Surgical SocietySurgical Case Reports2198-77932017-12-01311510.1186/s40792-017-0408-xSynchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case reportMasahiro Shibata0Takahiro Inaishi1Noriyuki Miyajima2Yayoi Adachi3Yuko Takano4Kenichi Nakanishi5Dai Takeuchi6Sumiyo Noda7Yuichi Aita8Kazuhiro Takekoshi9Yasuhiro Kodera10Toyone Kikumori11Department of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineFaculty of Medicine, Division of Sports Science/Laboratory Medicine, University of TsukubaFaculty of Medicine, Division of Sports Science/Laboratory Medicine, University of TsukubaDepartment of Gastroenterological Surgery (Surgery II), Nagoya University Graduate School of MedicineDepartment of Breast and Endocrine Surgery (Surgery II), Nagoya University Graduate School of MedicineAbstract Background Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). The clinical characteristics of hereditary PPGL are varying among the types of mutational genes. It is still difficult to specify the pathognomonic symptoms in the case of rare genetic mutations. Here, we report the case of synchronous bilateral pheochromocytomas and paraganglioma with novel MYC associated factor X (MAX) gene mutation. Case presentation A 24-year-old female had hyperhidrosis and hypertension. Her urine test showed high normetanephrine and vanillylmandelic acid. Enhanced computed tomography revealed three enhanced masses in right adrenal gland, left adrenal gland, and left renal hilus. She was diagnosed with PPGL. Because 123I-metaiodobenzylguanidine scintigraphy indicated the accumulations in the left adrenal gland mass and the left renal hilus mass and not in the right adrenal gland mass, we performed laparoscopic left adrenalectomy and extirpation of the left renal hilus mass to preserve the right adrenocortical function. However, her symptoms recurred shortly after the operation presumably due to unveiling of the activity of the right pheochromocytoma. Following right adrenalectomy as the second operation, the catecholamine levels declined to normal range. Her genetic testing indicated the novel germline mutation in MAX gene (c.70_73 del AAAC/p.Lys24fs*40). Conclusions MAX germline mutation is recently identified as a rare cause of hereditary PPGL. The deletion mutation in MAX gene in this patient has never reported before. In the case of bilateral pheochromocytomas, the surgical indication should be decided considering each patient’s genetic background. Due to the possibility for other types of malignant tumors, close follow-up is essential for MAX mutation carriers.http://link.springer.com/article/10.1186/s40792-017-0408-xPheochromocytomaParagangliomaMAX mutation |
| spellingShingle | Masahiro Shibata Takahiro Inaishi Noriyuki Miyajima Yayoi Adachi Yuko Takano Kenichi Nakanishi Dai Takeuchi Sumiyo Noda Yuichi Aita Kazuhiro Takekoshi Yasuhiro Kodera Toyone Kikumori Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report Surgical Case Reports Pheochromocytoma Paraganglioma MAX mutation |
| title | Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report |
| title_full | Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report |
| title_fullStr | Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report |
| title_full_unstemmed | Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report |
| title_short | Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report |
| title_sort | synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in max a case report |
| topic | Pheochromocytoma Paraganglioma MAX mutation |
| url | http://link.springer.com/article/10.1186/s40792-017-0408-x |
| work_keys_str_mv | AT masahiroshibata synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT takahiroinaishi synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT noriyukimiyajima synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT yayoiadachi synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT yukotakano synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT kenichinakanishi synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT daitakeuchi synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT sumiyonoda synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT yuichiaita synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT kazuhirotakekoshi synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT yasuhirokodera synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport AT toyonekikumori synchronousbilateralpheochromocytomasandparagangliomawithnovelgermlinemutationinmaxacasereport |