title: Persistent detection of a novel MLL-SACM1L rearrangement in the absence of leukemia.
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.
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mori
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Nishimura
authors.forename: Daiichiro
authors.initials: D
authors.lastname: Hasegawa
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Kawasaki
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Kosaka
authors.forename: Kazuko
authors.initials: K
authors.lastname: Uchide
authors.forename: Tomoko
authors.initials: T
authors.lastname: Yanai
authors.forename: Akira
authors.initials: A
authors.lastname: Hayakawa
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D002893:Chromosomes, Human, Pair 3; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D014178:Translocation, Genetic; D010744:Phosphoric Monoester Hydrolases
chemical_list: D011495:Histone-Lysine N-Methyltransferase; D008565:Membrane Proteins; D051788:Myeloid-Lymphoid Leukemia Protein; C497422:KMT2A protein, human; C431702:SACM1L protein, human; D010744:Phosphoric Monoester Hydrolases