Dr Gary D Hammer is the cofounder of Millendo Therapeutics (NASDAQ, MLND, MI, USA) and the founder of Vasaragen (MI, USA), two biotechnology companies focused on rare endocrine diseases. Hammer is also an employee of the University of Michigan.
Gary D Hammer博士是Millendo Therapeutics（纳斯达克，MLND，密歇根州，美国）的联合创始人和Vasaragen（密歇根州，USA）的创始人，这两家生物技术公司专注于罕见内分泌疾病。哈默也是密歇根大学的一名员工。
{"title":"Gary D Hammer on the improvement of patient care in endocrine neoplasia","authors":"G. Hammer","doi":"10.2217/ije-2019-0018","DOIUrl":"https://doi.org/10.2217/ije-2019-0018","url":null,"abstract":"Dr Gary D Hammer is the cofounder of Millendo Therapeutics (NASDAQ, MLND, MI, USA) and the founder of Vasaragen (MI, USA), two biotechnology companies focused on rare endocrine diseases. Hammer is also an employee of the University of Michigan.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2019-0018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46591544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aim: To study primary hyperparathyroidism (pHPT) in an oncology center, including its possible association with malignancy and ionizing radiation. Methods: Retrospective analysis of 188 patients with sporadic pHPT treated with parathyroidectomy between 2000 and 2018. We studied the etiology, clinical and biochemical features of pHPT, history of malignancies and exposure to radiotherapy. Results: pHPT was caused by parathyroid adenoma in 90.4%, hyperplasia in 5.3% and carcinoma in 4.3%. Cure and recurrence rates of pHPT were 99 and 4.3%, respectively. Median follow-up time was 19 months. Prevalence of malignancies was 30%, mostly thyroid and breast cancer. Radiotherapy of the head, neck or thorax (8.5%) was not associated with worse hypercalcaemia or recurrence. Males had larger adenomas, higher calcium and parathyroid hormone (p < 0.01). Conclusion: Prevalence of parathyroid carcinoma and other malignancies was higher than reported in other studies. Ionizing radiation exposure was unrelated with pHPT severity. Men had more severe pHPT. High cure and low recurrence rates were achieved.
{"title":"Primary hyperparathyroidism: a retrospective study over 18 years in an oncology center","authors":"Anabela Martins, H. Simões, V. Leite","doi":"10.2217/ije-2019-0005","DOIUrl":"https://doi.org/10.2217/ije-2019-0005","url":null,"abstract":"Aim: To study primary hyperparathyroidism (pHPT) in an oncology center, including its possible association with malignancy and ionizing radiation. Methods: Retrospective analysis of 188 patients with sporadic pHPT treated with parathyroidectomy between 2000 and 2018. We studied the etiology, clinical and biochemical features of pHPT, history of malignancies and exposure to radiotherapy. Results: pHPT was caused by parathyroid adenoma in 90.4%, hyperplasia in 5.3% and carcinoma in 4.3%. Cure and recurrence rates of pHPT were 99 and 4.3%, respectively. Median follow-up time was 19 months. Prevalence of malignancies was 30%, mostly thyroid and breast cancer. Radiotherapy of the head, neck or thorax (8.5%) was not associated with worse hypercalcaemia or recurrence. Males had larger adenomas, higher calcium and parathyroid hormone (p < 0.01). Conclusion: Prevalence of parathyroid carcinoma and other malignancies was higher than reported in other studies. Ionizing radiation exposure was unrelated with pHPT severity. Men had more severe pHPT. High cure and low recurrence rates were achieved.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2019-0005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44714588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The treatment of neuroendocrine prostate cancer; current status and future directions","authors":"P. Rescigno","doi":"10.2217/ije-2019-0010","DOIUrl":"https://doi.org/10.2217/ije-2019-0010","url":null,"abstract":"","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2019-0010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47276378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pituitary tumors are common intracranial neoplasms associated with significant morbidity due to hormonal dysregulation and neurologic symptoms. Somatic mutations are uncommon in sporadic pituitary adenomas, and only few monogenic conditions are associated with pituitary tumors. However, increasing evidence suggests that aberrant epigenetic modifications are found in pituitary tumors. In this review, we describe these mechanisms, including DNA methylation, histone modification and microRNA expression, and the evidence supporting their dysregulation in pituitary tumors, as well as their regulation of pro-tumorigenic genes. In addition, we provide an overview of findings from preclinical studies investigating the use of histone deacetylase inhibitors to treat pituitary adenomas and the need for further studies involving epigenetic drugs and functional characterization of epigenetic dysregulation.
{"title":"Epigenetic dysregulation in pituitary tumors","authors":"O. Shariq, K. Lines","doi":"10.2217/ije-2019-0006","DOIUrl":"https://doi.org/10.2217/ije-2019-0006","url":null,"abstract":"Pituitary tumors are common intracranial neoplasms associated with significant morbidity due to hormonal dysregulation and neurologic symptoms. Somatic mutations are uncommon in sporadic pituitary adenomas, and only few monogenic conditions are associated with pituitary tumors. However, increasing evidence suggests that aberrant epigenetic modifications are found in pituitary tumors. In this review, we describe these mechanisms, including DNA methylation, histone modification and microRNA expression, and the evidence supporting their dysregulation in pituitary tumors, as well as their regulation of pro-tumorigenic genes. In addition, we provide an overview of findings from preclinical studies investigating the use of histone deacetylase inhibitors to treat pituitary adenomas and the need for further studies involving epigenetic drugs and functional characterization of epigenetic dysregulation.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2019-0006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45518740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
5-Hydroxyindole acetic acid (5-HIAA) is a surrogate marker for serotonin measurement and one of the first biochemical markers used in neuroendocrine tumors. In this review, we give a brief history of 5-HIAA and its precursor serotonin. We discuss its clinical utility and diagnostic performance in small intestinal neuroendocrine tumor and describe the challenges encountered during its analysis, historically performed in urine. The introduction of blood-based assays will help overcome some of the issues associated with its measurement in urine. The diagnostic performance of serum and plasma 5-HIAA has been shown to be comparable to that of urine 5-HIAA. Thus, analysis in either serum or plasma will provide a practical and convenient alternative to urine.
{"title":"The role of 5-hydroxyindoleacetic acid in neuroendocrine tumors: the journey so far","authors":"M. Ewang-Emukowhate, D. Nair, M. Caplin","doi":"10.2217/IJE-2019-0001","DOIUrl":"https://doi.org/10.2217/IJE-2019-0001","url":null,"abstract":"5-Hydroxyindole acetic acid (5-HIAA) is a surrogate marker for serotonin measurement and one of the first biochemical markers used in neuroendocrine tumors. In this review, we give a brief history of 5-HIAA and its precursor serotonin. We discuss its clinical utility and diagnostic performance in small intestinal neuroendocrine tumor and describe the challenges encountered during its analysis, historically performed in urine. The introduction of blood-based assays will help overcome some of the issues associated with its measurement in urine. The diagnostic performance of serum and plasma 5-HIAA has been shown to be comparable to that of urine 5-HIAA. Thus, analysis in either serum or plasma will provide a practical and convenient alternative to urine.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/IJE-2019-0001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43089392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aim: The most frequent finding associated with incidental fluorodeoxyglucose (FDG) uptake in sellar region in oncologic F-18 FDG PET/CT is adenoma. However, reports of metastatic involvement exist. We investigated the clinical significance of incidental FDG uptake in this region. Materials & method: 34 patients with several primary tumors who were referred for staging, restaging or treatment response via F-18 FDG PET/CT were included. Images were reviewed and patients with significant FDG uptake in the sellar region were referred. Results: Mean lesion diameter was 11.9 ± 4.9 mm and mean standardized uptake value was 8.2 ± 6.1. Thirteen patients underwent MRI, and the others underwent follow-up F-18 FDG PET/CT. MRI revealed metastatic involvement in nine patients and macro- or micro-adenoma in four. Metastatic patients also had other lesions, yet management did not change. Conclusion: FDG accumulation in the sellar region might be associated with metastasis or adenoma. However, it did not change management. Future studies are warranted.
{"title":"The clinical impact of incidental sellar uptake on F-18 FDG PET/CT","authors":"Z. Koç, P. Kara, E. Sezer, K. Eser, A. Özgür","doi":"10.2217/ije-2018-0004","DOIUrl":"https://doi.org/10.2217/ije-2018-0004","url":null,"abstract":"Aim: The most frequent finding associated with incidental fluorodeoxyglucose (FDG) uptake in sellar region in oncologic F-18 FDG PET/CT is adenoma. However, reports of metastatic involvement exist. We investigated the clinical significance of incidental FDG uptake in this region. Materials & method: 34 patients with several primary tumors who were referred for staging, restaging or treatment response via F-18 FDG PET/CT were included. Images were reviewed and patients with significant FDG uptake in the sellar region were referred. Results: Mean lesion diameter was 11.9 ± 4.9 mm and mean standardized uptake value was 8.2 ± 6.1. Thirteen patients underwent MRI, and the others underwent follow-up F-18 FDG PET/CT. MRI revealed metastatic involvement in nine patients and macro- or micro-adenoma in four. Metastatic patients also had other lesions, yet management did not change. Conclusion: FDG accumulation in the sellar region might be associated with metastasis or adenoma. However, it did not change management. Future studies are warranted.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2018-0004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42159052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pier-Luc Clermont, Xinpei Ci, H. Pandha, Yuzhuo Wang, F. Crea
An increasingly recognized mechanism of prostate cancer resistance is the transdifferentiation from adenocarcinoma to treatment-emergent neuroendocrine prostate cancer (t-NEPC), an extremely aggressive malignancy. The incidence of t-NEPC has been increasing in recent years, in part due to novel treatments that target the androgen receptor pathway. While clinicians historically had very few options for t-NEPC detection and treatment, recent research has uncovered key diagnostic tools and therapeutic targets that can be translated into improved patient care. In this article, we will outline the clinical features of t-NEPC and its molecular pathogenesis. Importantly, we will also discuss recently uncovered molecularly based strategies aimed at improving the diagnosis and treatment of t-NEPC. Finally, we will propose a unified algorithm that integrates clinical and molecular information for the clinical management of t-NEPC.
{"title":"Treatment-emergent neuroendocrine prostate cancer: molecularly driven clinical guidelines","authors":"Pier-Luc Clermont, Xinpei Ci, H. Pandha, Yuzhuo Wang, F. Crea","doi":"10.2217/ije-2019-0008","DOIUrl":"https://doi.org/10.2217/ije-2019-0008","url":null,"abstract":"An increasingly recognized mechanism of prostate cancer resistance is the transdifferentiation from adenocarcinoma to treatment-emergent neuroendocrine prostate cancer (t-NEPC), an extremely aggressive malignancy. The incidence of t-NEPC has been increasing in recent years, in part due to novel treatments that target the androgen receptor pathway. While clinicians historically had very few options for t-NEPC detection and treatment, recent research has uncovered key diagnostic tools and therapeutic targets that can be translated into improved patient care. In this article, we will outline the clinical features of t-NEPC and its molecular pathogenesis. Importantly, we will also discuss recently uncovered molecularly based strategies aimed at improving the diagnosis and treatment of t-NEPC. Finally, we will propose a unified algorithm that integrates clinical and molecular information for the clinical management of t-NEPC.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2019-0008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47774722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
B. Saravana-Bawan, S. Koumna, M. Wieler, A. Mcewan, T. McMullen
Aim: This study assesses if clinically developed quality of life (QoL) tools are as effective in small bowel neuroendocrine tumors (NETs) as NET-specific research questionnaires. Methods: QoL in patients with small bowel NETs treated with Lu-DOTA-TATE was assessed with The European Organization for Research and Treatment of Cancer (EORTC) QLQ-C30, QLQ-GI.NET21 and Edmonton Symptom Assessment System Revised (ESAS-r) at baseline and after four treatments. Repeated measures ANOVA was performed. Results: Both EORTC and ESAS-r demonstrated maintained overall QoL. EORTC demonstrated statistically and clinically significant improvement in insomnia, diarrhea, gastrointestinal, endocrine symptoms and social function. ESAS-r demonstrated statistically and clinically significant improvement in overall total symptom distress score. Conclusion: ESAS-r is quick and easy to interpret. It is not as sensitive to individual symptoms but does track overall function. EORTC assessment is more complex, but better reflects QoL for NET specific symptoms.
{"title":"Comparison and clinical implementation of quality of life tools in patients with small bowel neuroendocrine tumors treated with Lu-DOTA-TATE PRRT","authors":"B. Saravana-Bawan, S. Koumna, M. Wieler, A. Mcewan, T. McMullen","doi":"10.2217/ije-2019-0003","DOIUrl":"https://doi.org/10.2217/ije-2019-0003","url":null,"abstract":"Aim: This study assesses if clinically developed quality of life (QoL) tools are as effective in small bowel neuroendocrine tumors (NETs) as NET-specific research questionnaires. Methods: QoL in patients with small bowel NETs treated with Lu-DOTA-TATE was assessed with The European Organization for Research and Treatment of Cancer (EORTC) QLQ-C30, QLQ-GI.NET21 and Edmonton Symptom Assessment System Revised (ESAS-r) at baseline and after four treatments. Repeated measures ANOVA was performed. Results: Both EORTC and ESAS-r demonstrated maintained overall QoL. EORTC demonstrated statistically and clinically significant improvement in insomnia, diarrhea, gastrointestinal, endocrine symptoms and social function. ESAS-r demonstrated statistically and clinically significant improvement in overall total symptom distress score. Conclusion: ESAS-r is quick and easy to interpret. It is not as sensitive to individual symptoms but does track overall function. EORTC assessment is more complex, but better reflects QoL for NET specific symptoms.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2019-0003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68217438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
“ External radiotherapy is otherwise used only against brain metastases or for pain relief in patients with bone metastases. There are no studies showing that adjuvant therapy is beneficial after radical surgery. ” Bronchial neuroendocrine tumors are subdivided into typical carcinoids, atypical carcinoids, large cell neuroendocrine carcinomas and small-cell lung carcinomas. Large-cell neuroendocrine carcinomas as well as small-cell lung carcimomas are highly malignant tumors with a poor prognosis. Smoking is a major etiological factor. These patients are principally treated by chemotherapy and radiotherapy. In addition, surgery may have some place in the treatment of large-cell neuroendocrine carcinomas. These two tumor types will not be further discussed in this article, which will focus on typical and atypical carcinoids. In addition, two other entities will be briefly mentioned, namely tumorlets and diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, DIPNECH. Gastroenteropancreatic neuroendocrine tumors are classified according to mitotic count and proliferative rate (Ki67 index) into neuroendocrine tumor grade 1, neuroendocrine tumor grade 2 and neuroendocrine carcinoma grade 3, small and large cell, respectively. The classification of neuroendocrine lung neoplasms, however, is still based on mitotic count. Typical carcinoids have less than two mitoses per 2 mm 2 (ten high-power fields) while atypical carcinoids have between two and ten mitoses per 2 mm 2 . Atypical carcinoids may contain
{"title":"Bronchial carcinoids","authors":"D. Granberg","doi":"10.2217/ije-2017-0010","DOIUrl":"https://doi.org/10.2217/ije-2017-0010","url":null,"abstract":"“ External radiotherapy is otherwise used only against brain metastases or for pain relief in patients with bone metastases. There are no studies showing that adjuvant therapy is beneficial after radical surgery. ” Bronchial neuroendocrine tumors are subdivided into typical carcinoids, atypical carcinoids, large cell neuroendocrine carcinomas and small-cell lung carcinomas. Large-cell neuroendocrine carcinomas as well as small-cell lung carcimomas are highly malignant tumors with a poor prognosis. Smoking is a major etiological factor. These patients are principally treated by chemotherapy and radiotherapy. In addition, surgery may have some place in the treatment of large-cell neuroendocrine carcinomas. These two tumor types will not be further discussed in this article, which will focus on typical and atypical carcinoids. In addition, two other entities will be briefly mentioned, namely tumorlets and diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, DIPNECH. Gastroenteropancreatic neuroendocrine tumors are classified according to mitotic count and proliferative rate (Ki67 index) into neuroendocrine tumor grade 1, neuroendocrine tumor grade 2 and neuroendocrine carcinoma grade 3, small and large cell, respectively. The classification of neuroendocrine lung neoplasms, however, is still based on mitotic count. Typical carcinoids have less than two mitoses per 2 mm 2 (ten high-power fields) while atypical carcinoids have between two and ten mitoses per 2 mm 2 . Atypical carcinoids may contain","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/ije-2017-0010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42094527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Alzahrani, Meshael M. Alswailem, Shatha Albattal, Ebtesam Qasem, A. K. Murugan, H. Al-Hindi
Non-paraganglioma (PGL) tumors are rare manifestations of familial PGL syndromes. Primary hyperparathyroidism has not been described in PGL syndromes. We present a 36-year-old man with a history of right carotid body tumor at 24 years and an abdominal PGL at 31 years of age. At 35 years, he developed hypercalcemia (serum Ca 2.65–2.72 mmol/l), and high parathyroid hormone of 92–131 ng/l (normal range, 15–65) and a Tc99 Sestamibi scan showed a single parathyroid adenoma which was confirmed on histopathological examination of parathyroidectomy. Recently, he was diagnosed with a left glomus jugulare which has not been operated on yet. His family history is strongly positive for PGLs. Genetic testing revealed a novel SDHB mutation (p.K137E) but the phenotype and penetrance were variable in different family members.
{"title":"Familial paraganglioma due to a novel SDHB mutation: familial phenotypic heterogeneity and a potentially novel manifestation","authors":"A. Alzahrani, Meshael M. Alswailem, Shatha Albattal, Ebtesam Qasem, A. K. Murugan, H. Al-Hindi","doi":"10.2217/IJE-2018-0003","DOIUrl":"https://doi.org/10.2217/IJE-2018-0003","url":null,"abstract":"Non-paraganglioma (PGL) tumors are rare manifestations of familial PGL syndromes. Primary hyperparathyroidism has not been described in PGL syndromes. We present a 36-year-old man with a history of right carotid body tumor at 24 years and an abdominal PGL at 31 years of age. At 35 years, he developed hypercalcemia (serum Ca 2.65–2.72 mmol/l), and high parathyroid hormone of 92–131 ng/l (normal range, 15–65) and a Tc99 Sestamibi scan showed a single parathyroid adenoma which was confirmed on histopathological examination of parathyroidectomy. Recently, he was diagnosed with a left glomus jugulare which has not been operated on yet. His family history is strongly positive for PGLs. Genetic testing revealed a novel SDHB mutation (p.K137E) but the phenotype and penetrance were variable in different family members.","PeriodicalId":42691,"journal":{"name":"International Journal of Endocrine Oncology","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2217/IJE-2018-0003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46462017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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