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

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

doi:10.1016/j.cancergencyto.2010.03.001

Journal article

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

Carlos A Tirado, Federico Valdez, Laura Klesse, Nitin J Karandikar, Naseem Uddin, Arnaldo Arbini, Nicholas Fustino, Robert Collins, Sangeeta Patel, Ruth L Smart, …

Cancer genetics and cytogenetics, Vol.200(1), pp.54-59

07/01/2010

DOI: 10.1016/j.cancergencyto.2010.03.001

PMID: 20513535

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Abstract

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.

Flow Cytometry

Chromosome Deletion

Translocation, Genetic

Leukemia, Myeloid, Acute - pathology

Humans

Male

Chromosomes, Human, Pair 9

Chromosome Inversion

Chromosomes, Human, Pair 7

Fusion Proteins, bcr-abl - genetics

Oncogene Proteins, Fusion - genetics

Adolescent

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 22

Leukemia, Myeloid, Acute - genetics

Details

Title: Subtitle: 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
Creators: Carlos A Tirado - The University of Texas Southwestern Medical Center
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
Resource Type: Journal article
Publication Details: Cancer genetics and cytogenetics, Vol.200(1), pp.54-59
Publisher: United States
DOI: 10.1016/j.cancergencyto.2010.03.001
PMID: 20513535
ISSN: 0165-4608
eISSN: 1873-4456
Language: English
Date published: 07/01/2010
Academic Unit: Stead Family Department of Pediatrics; Pathology
Record Identifier: 9984046905602771

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