A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma
المؤلفون المشاركون
Chai, Young Jun
Kim, Su-jin
Choi, June Young
Lee, Kyu Eun
Yi, Jin Wook
Kang, Hye In
Seong, Chan Yong
Seong, Moon-Woo
Park, Sung Sup
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-04-15
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin.
Up to 40% of patients with these tumors have germline mutations in known susceptibility genes.
We report a novel RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister.
A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination.
Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas.
The levels of vanillylmandelic acid and other catecholamines were elevated in 24-hour urine, and an imaging study revealed a right adrenal mass.
She underwent laparoscopic adrenalectomy and the final pathologic diagnosis was pheochromocytoma.
Mutation screening detected a RET p.D898Y mutation, both in the patient and in the patient’s two sons and older sister.
This is the first description of a RET D898Y mutation in a pheochromocytoma patient and her family.
The mutation should be categorized as a variant of unknown significance because no RET gene related disorders were detected in this family.
Long term follow-up will be required to determine the clinical significance of the RET D898Y mutation.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Yi, Jin Wook& Kang, Hye In& Kim, Su-jin& Seong, Chan Yong& Chai, Young Jun& Choi, June Young…[et al.]. 2018. A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma. Case Reports in Endocrinology،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1143070
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Yi, Jin Wook…[et al.]. A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma. Case Reports in Endocrinology No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1143070
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Yi, Jin Wook& Kang, Hye In& Kim, Su-jin& Seong, Chan Yong& Chai, Young Jun& Choi, June Young…[et al.]. A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma. Case Reports in Endocrinology. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1143070
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1143070
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر