AACE clinical case reports · 2020
SDHD Gene Mutations: Looking Beyond Head and Neck Tumors.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Kadiyala Sushma, Khan Yasmin, de Miguel Valeria, Frone Megan N, Nwariaku Fiemu, Rabaglia Jennifer, Woodruff Stacey, King Elizabeth E, Hathiramani Sumitha S, Pacak Karel, Ghayee Hans K
Аннотация
OBJECTIVE: Succinate dehydrogenase complex, subunit D (SDHD) gene mutations are most commonly associated with head and neck paragangliomas. We describe a pair of cases with early-onset, bilateral pheochromocytoma (PCC) and paraganglioma (PGL) syndrome associated with SDHD mutation.
METHODS: We describe 2 cases of hereditary, early-onset, bilateral PCC/PGL syndrome associated with SDHD mutation.
RESULTS: Both cases presented under the age of 30 with bilateral PCC and PGL with SDHD mutations. Case 1 is a female who was initially diagnosed with hypertension and later work-up revealed elevated norepinephrine levels. Positron emission tomography coupled with computed tomography showed avid uptake of fluorodeoxyglucose by the right adrenal gland, the organ of Zuckerkandl, and the left carotid bifurcation. Surgical resection was performed and resulted in normalization of her catecholamines. Case 2 is a male who similarly presented with hypertension and elevated norepinephrine levels. Imaging revealed head, neck, and abdominal PGL. He underwent staged adrenal-ectomies and abdominal PGL resection. Gene sequencing and deletion/duplication analysis revealed that case 1 had an exon 2 deletion in her SDHD gene and case 2 had a frameshift mutation resulting in a stop codon in exon 3 in his SDHD gene.
CONCLUSION: While SDHD mutations are primarily thought to result in silent head and neck tumors, our cases indicate that they should also be considered in the evaluation of functional, bilateral adrenal PCC in young patients.
METHODS: We describe 2 cases of hereditary, early-onset, bilateral PCC/PGL syndrome associated with SDHD mutation.
RESULTS: Both cases presented under the age of 30 with bilateral PCC and PGL with SDHD mutations. Case 1 is a female who was initially diagnosed with hypertension and later work-up revealed elevated norepinephrine levels. Positron emission tomography coupled with computed tomography showed avid uptake of fluorodeoxyglucose by the right adrenal gland, the organ of Zuckerkandl, and the left carotid bifurcation. Surgical resection was performed and resulted in normalization of her catecholamines. Case 2 is a male who similarly presented with hypertension and elevated norepinephrine levels. Imaging revealed head, neck, and abdominal PGL. He underwent staged adrenal-ectomies and abdominal PGL resection. Gene sequencing and deletion/duplication analysis revealed that case 1 had an exon 2 deletion in her SDHD gene and case 2 had a frameshift mutation resulting in a stop codon in exon 3 in his SDHD gene.
CONCLUSION: While SDHD mutations are primarily thought to result in silent head and neck tumors, our cases indicate that they should also be considered in the evaluation of functional, bilateral adrenal PCC in young patients.