Document Detail

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.
MedLine Citation:
PMID:  20513535     Owner:  NLM     Status:  MEDLINE    
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.
Carlos A Tirado; Federico Valdez; Laura Klesse; Nitin J Karandikar; Naseem Uddin; Arnaldo Arbini; Nicholas Fustino; Robert Collins; Sangeeta Patel; Ruth L Smart; Rolando Garcia; Jeff Doolittle; Weina Chen
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  200     ISSN:  1873-4456     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-01     Completed Date:  2010-06-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  54-9     Citation Subset:  IM    
Copyright Information:
2010 Elsevier Inc. All rights reserved.
Department of Pathology, The University of Texas Southwestern Medical Center at Dallas, 75390-9073, USA. <>
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MeSH Terms
Chromosome Deletion*
Chromosome Inversion*
Chromosomes, Human, Pair 16*
Chromosomes, Human, Pair 22*
Chromosomes, Human, Pair 7*
Chromosomes, Human, Pair 9*
Flow Cytometry
Fusion Proteins, bcr-abl / genetics*
Leukemia, Myeloid, Acute / genetics*,  pathology
Oncogene Proteins, Fusion / genetics*
Translocation, Genetic*
Reg. No./Substance:
0/CBFbeta-MYH11 fusion protein; 0/Fusion Proteins, bcr-abl; 0/Oncogene Proteins, Fusion

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