ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial
المؤلفون المشاركون
Polverelli, Nicola
Zanaglio, C.
Farina, M.
Schieppati, Francesca
Re, Federica
Foroni, Chiara
Dunbar, Andrew J.
Cattina, Federica
Russo, Domenico
Malagola, Michele
Bernardi, Simona
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-01-11
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Background.
The identification of germline mutations in familial leukemia predisposition genes by next generation sequencing is of pivotal importance.
Lately, some “blend pedigrees” characterized by both solid and hematologic malignancies have been described.
Some genes were recognized as related to this double predisposition, while the involvement of others is still a matter of debate.
ETV6 was associated with hematologic malignancies, in particular myeloid malignancies, and recently described as mutated also in oncologic patients.
No clear evidences in its involvement in blend pedigrees are known.
Case Presentation.
We present our recent experience in the identification of an ETV6-mutated “blend pedigree,” suggesting the involvement of ETV6 in the predisposition to both solid and hematologic neoplasia.
The pedigree recognition started with a MDS case enrolled in the NEXT-Famly protocol.
The patient presented 9 relatives affected by solid tumors and hematological malignancies.
Following the clinical trial protocol, the patient underwent NGS analysis, which confirmed the presence of a mutation on the noncoding region of ETV6 both on tumor and on germline DNA.
The mutation resulted was shared by the still alive affected relatives.
Conclusion.
This evidence supports the involvement of ETV6 in the predisposition to both solid and hematologic neoplasia and the importance of the investigation of the noncoding regions of the genes as recently suggested by different expert groups.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Bernardi, Simona& Farina, M.& Zanaglio, C.& Cattina, Federica& Polverelli, Nicola& Schieppati, Francesca…[et al.]. 2020. ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial. Case Reports in Hematology،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147629
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Bernardi, Simona…[et al.]. ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial. Case Reports in Hematology No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1147629
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Bernardi, Simona& Farina, M.& Zanaglio, C.& Cattina, Federica& Polverelli, Nicola& Schieppati, Francesca…[et al.]. ETV6: A Candidate Gene for Predisposition to “Blend Pedigrees”? A Case Report from the NEXT-Famly Clinical Trial. Case Reports in Hematology. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147629
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147629
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