A Case of Concordant Twins with Infant ALL and Discordant Clinical Outcome – Part I: the genetic basis – identification of DSC2 as a gene with prognostic impact in infant MLL-rear…
H Fedders, BS Petersen, A Alsadeq, C Kellner, M Peipp, M Bulduk, T Valerius, R Häsler, J Alten, A Möricke, S Strube, T Wiesel, G Cario, M Schrappe, A Franke, M Stanulla, DM Schewe · Klinische Pädiatrie · 2015 · Heft 07
Bibliografische Angaben
Zusammenfassung
Infant acute lymphoblastic leukemia (ALL) is associated with an unfavorable prognosis due to a high proportion of early relapses. We report on a pair of monozygotic twin sisters diagnosed with ALL (MLL-ENL fusion) in early infancy. Despite good initial treatment responses in both twins, one sister developed very early relapse (Twin A) and succumbed to the disease. The other sister went into continuous complete remission (Twin B) and is alive after 9 years. We performed exome sequencing experiments to identify additional diverging mutations in the twins that may be connected to the different clinical outcomes. Re…
