학술논문

Targeted deep next generation sequencing identifies potential somatic and germline variants for predisposition to familial Burkitt lymphoma.
Document Type
Article
Source
European Journal of Haematology. Jul2021, Vol. 107 Issue 1, p166-169. 4p.
Subject
*GERM cells
*BURKITT'S lymphoma
*GENETIC testing
*LYMPHOMAS
*HUMAN genetic variation
Language
ISSN
0902-4441
Abstract
Dear Editor, The genetic landscape of Burkitt lymphoma (BL) has been elucidated over decade, however, few reports have described genetic basis for its pathogenesis in familial BL.1-5 Here, we performed targeted deep next generation sequencing of Japanese dizygotic twins who were diagnosed with BL (Figure S1A). Since I CCND3 i mutation is known to associates advance of BL, we can hypothesize that I CCND3 i mutation causes earlier development of BL in patient 2.7 This is the first report to analyze the genetic elements in familial BL. Based on the functions associated with lymphocyte hyperproliferation, we speculated that the somatic variants might drive B-cell tumorigenesis in the dizygotic twins who had germline variants of I TCF3 i and I MGA i . [Extracted from the article]