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Case Reports
. 2010 Oct;34(10):1398-401.
doi: 10.1016/j.leukres.2010.05.001.

Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia

Takeshi Mori  1 , Noriyuki Nishimura, Daiichiro Hasegawa, Keiichiro Kawasaki, Yoshiyuki Kosaka, Kazuko Uchide, Tomoko Yanai, Akira Hayakawa, Yasuhiro Takeshima, Hisahide Nishio, Masafumi Matsuo
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Free article
Case Reports

Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia

Takeshi Mori et al. Leuk Res. 2010 Oct.
Free article

Abstract

Most chromosomal rearrangements including the mixed lineage leukemia (MLL) gene are manifested as leukemia and predict a poor prognosis. Although more than 50 MLL-rearrangement partners are characterized, MLL-related leukemogenesis remains to be understood. Here we report a case of a 3-year old boy bearing a novel MLL-rearrangement with the suppressor of actin mutations 1-like (SACM1L) gene in the absence of leukemia. Bone marrow cells harboring the MLL-SACM1L rearrangement appeared during chemotherapy for acute lymphoblastic leukemia with hyperdiploidy and were continuously detected over 7 years without clonal expansion.

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