Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review.
Coexistence of inv(16) and t(9;22) is a rare chromosomal aberration, one that has been described in chronic myelogenous leukemia (CML), mainly in myeloid blast crisis, and de novo acute myeloid leukemia (AML). Approximately 14 cases have been reported, including only 1 pediatric case. Here we present the case of a 13-year-old boy with a new diagnosis of AML with some features of monocytic differentiation. Conventional cytogenetic analyses on unstimulated blood showed three related abnormal clones with inv(16) in the stemline: 46,XY,inv(16)(p13.1q22)[2]/46,idem,del(7)(q22q32)[16]/46,idem,t(9;22;19)(q34;q11.2;p13.1)[2]. Fluorescence in situ hybridization (FISH) studies on interphase nuclei and previously G-banded metaphases showed a 3'CBFB deletion and confirmed the presence of the Philadelphia chromosome in a t(9;22;19) rearrangement. Deletion 7q31 was also confirmed by interphase FISH analysis. The patient was treated with standard AML chemotherapy plus gemtuzumab as part of a clinical trial. At 10-months follow-up, he was in remission. To the best of our knowledge, this is the first description of a pediatric case of de novo AML with a stemline showing inv(16) along with 3'CBFB deletion, an abnormal clone revealing in addition a del(7)(q22q32), and another clone with a t(9;22;19)(q34;q11.2;p13.1) as an additional abnormality.
Tirado
Carlos A
CA
Department of Pathology, The University of Texas Southwestern Medical Center at Dallas, 75390-9073, USA. carlos1.tirado@utsouthwestern.edu <carlos1.tirado@utsouthwestern.edu>
Valdez
Federico
F
Klesse
Laura
L
Karandikar
Nitin J
NJ
Uddin
Naseem
N
Arbini
Arnaldo
A
Fustino
Nicholas
N
Collins
Robert
R
Patel
Sangeeta
S
Smart
Ruth L
RL
Garcia
Rolando
R
Doolittle
Jeff
J
Chen
Weina
W
D000293:Adolescent; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D005434:Flow Cytometry; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
C095514:CBFbeta-MYH11 fusion protein; D015514:Oncogene Proteins, Fusion; D016044:Fusion Proteins, bcr-abl