title: Two childhood cases of acute leukemia with t(16;21)(p11.2;q22): second case report of infantile acute lymphoblastic leukemia with unusual type of FUS-ERG chimeric transcript.
abstract: We report two childhood cases of acute leukemia with t(16;21)(p11.2;q22) and FUS-ERG rearrangements. Patient 1 (14 years old) was initially diagnosed with acute myeloid leukemia. Chromosome study showed a t(16;21)(p11.2;q22) clone in more than one third of the cells analyzed, and further investigation with reverse-transcriptase polymerase chain reaction, cloning, and sequencing confirmed FUS-ERG rearrangement (type B). Patient 2 (8 months old) was diagnosed with acute lymphoblastic leukemia (ALL) on the basis of bone marrow morphology and immunophenotyping. Chromosome study revealed a 45,XY,-16,der(21)t(16;21)(p11.2;q22) in 50% of the cells analyzed. Further studies for the detection of a FUS-ERG chimeric transcript were conducted, and an unusual type of FUS-ERG rearrangement was discovered, which has been reported in only three patients including a 1-year-old infant with ALL. Although more clinical studies are necessary, we believe that a possible association between ALL and a specific type of FUS-ERG fusion transcript might be considered, especially in childhood cases with t(16;21).
authors.affiliation: Department of Laboratory Medicine, Inje University College of Medicine, Gaegeum-dong, Busanjin-gu, Busan, Korea.
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Oh
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Jong Rak
authors.initials: JR
authors.lastname: Choi
authors.forename: Sanggyu
authors.initials: S
authors.lastname: Lee
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.forename: So Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Ji Kyoung
authors.initials: JK
authors.lastname: Park
authors.forename: Sae Am
authors.initials: SA
authors.lastname: Song
authors.forename: Ja Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Jeong Hwan
authors.initials: JH
authors.lastname: Shin
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Jeong Nyeo
authors.initials: JN
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D002885:Chromosomes, Human, Pair 16; D002891:Chromosomes, Human, Pair 21; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis*; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D034702:RNA-Binding Protein FUS; C107302:TLS-ERG fusion protein, human