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.
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).
Oh
Seung Hwan
SH
Department of Laboratory Medicine, Inje University College of Medicine, Gaegeum-dong, Busanjin-gu, Busan, Korea.
Park
Tae Sung
TS
Choi
Jong Rak
JR
Lee
Sanggyu
S
Cho
Sun Young
SY
Kim
So Young
SY
Kim
Juwon
J
Park
Ji Kyoung
JK
Song
Sae Am
SA
Lee
Ja Young
JY
Shin
Jeong Hwan
JH
Kim
Hye Ran
HR
Lee
Jeong Nyeo
JN
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
D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; D034702:RNA-Binding Protein FUS; C107302:TLS-ERG fusion protein, human