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العنوان
Association of NOTCH1 gene mutation and poor prognostic factors in patients with chronic lymphocytic leukemia/
المؤلف
Ahmed, Aya Ahmed Salah.
هيئة الاعداد
باحث / آية أحمد صلاح أحمد
مشرف / زينب إبراهيم مراد
مشرف / سها روؤف يوسف
مشرف / ريهام عبد الحليم أبو الوفا
الموضوع
Clinical Pathology. Chemical Pathology.
تاريخ النشر
2022.
عدد الصفحات
67 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب
تاريخ الإجازة
14/12/2022
مكان الإجازة
جامعة الاسكندريه - كلية الطب - Clinical and Chemical Pathology
الفهرس
Only 14 pages are availabe for public view

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from 81

Abstract

Chronic lymphocytic leukemia (CLL) is an indolent B cell lymphoproliferative disorder characterized by the clonal proliferation of CD5+CD23+ B-cells in blood, bone marrow, spleen and secondary lymphoid tissues. It is a widely heterogeneous disease due to its different clinical courses and responses to treatment. So, In order to enhance the outcome of the disease and to increase the OS, each patient should be thoroughly assessed. Several prognostic tools are used to predict the patient outcome such as the Rai and Binet staging system, IGHV mutational status, ZAP70 and CD38 and Serum markers including B2m and LDH. Then, Cytogenetic abnormalities detected by FISH such as deletion 13q, deletion 17p and TP53 deletion emerged as one of the most vital and reliable prognostic markers.
Recently, the emergence of Next generation sequencing technologies have led to the breakthrough discovery of the crucial role of genetic coding and noncoding mutations in CLL; namely TP53, NOTCH1, BIRC3, ATM and MYD88. NOTCH1 has emerged as one of the most frequent gene mutations having a significant prognostic relevance in CLL.
The present work aimed at the study of the mutational status of NOTCH1 gene in CLL and its correlation with the other well established prognostic markers as LDH, B2m, CD38, ZAP-70, as well as cytogenetic aberrations including TP53 deletion.