A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0)

Jiyun Lee; Xianglan Lu; Eun Sim Shin; William F. Kern; John J. Mulvihill; Shibo Li

doi:10.1016/j.cancergencyto.2007.10.012

A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0)

Jiyun Lee, Xianglan Lu, Eun Sim Shin, William F. Kern, John J. Mulvihill, Shibo Li

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

No chromosomal rearrangements have been identified as specifically associated with minimally differentiated acute myeloid leukemia (AML-M0). Several research groups studied the cytogenetic features of AML-M0 and found that as much as 81% of patients with AML-M0 had chromosomal rearrangements; primarily -5/5q- and/or -7/7q- deletions or translocations involving 12p. A patient, who was diagnosed with AML-M0 eighteen months ago, was referred for cytogenetic evaluation for possible AML relapse. A subtle, cryptic t(5;9)(q35.3;q34.3), plus a deletion of the RB1 gene were detected in 18 out of 20 cells analyzed by FISH utilizing the TelVysion^® assay kit. To rule out the possibility that these chromosomal changes were related to the relapse of AML in this case, we repeated the same FISH test on the specimen at initial diagnosis before any treatment. The same abnormalities were found. To our knowledge, this is the first case reported with subtelomeric t(5;9)(q35.3;q34.3) and the deletion of the RB1 gene in a patient with AML-M0. Whether the t(5;9) combined with the deletion of the RB1 gene plays an important role in the development of AML-M0 warrants further investigation.

Original language	English
Pages (from-to)	36-39
Number of pages	4
Journal	Cancer Genetics and Cytogenetics
Volume	181
Issue number	1
DOIs	https://doi.org/10.1016/j.cancergencyto.2007.10.012
Publication status	Published - 2008 Feb
Externally published	Yes

Bibliographical note

Funding Information:
Authors express special thanks to Mallory Martin for her technical support. S Li and JJ Mulvihill were supported in part by the grant CA115320 to the University of Oklahoma from the National Cancer Institute, National Institute of Health.

ASJC Scopus subject areas

Molecular Biology
Genetics
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.cancergencyto.2007.10.012

Cite this

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title = "A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0)",

abstract = "No chromosomal rearrangements have been identified as specifically associated with minimally differentiated acute myeloid leukemia (AML-M0). Several research groups studied the cytogenetic features of AML-M0 and found that as much as 81% of patients with AML-M0 had chromosomal rearrangements; primarily -5/5q- and/or -7/7q- deletions or translocations involving 12p. A patient, who was diagnosed with AML-M0 eighteen months ago, was referred for cytogenetic evaluation for possible AML relapse. A subtle, cryptic t(5;9)(q35.3;q34.3), plus a deletion of the RB1 gene were detected in 18 out of 20 cells analyzed by FISH utilizing the TelVysion{\textregistered} assay kit. To rule out the possibility that these chromosomal changes were related to the relapse of AML in this case, we repeated the same FISH test on the specimen at initial diagnosis before any treatment. The same abnormalities were found. To our knowledge, this is the first case reported with subtelomeric t(5;9)(q35.3;q34.3) and the deletion of the RB1 gene in a patient with AML-M0. Whether the t(5;9) combined with the deletion of the RB1 gene plays an important role in the development of AML-M0 warrants further investigation.",

author = "Jiyun Lee and Xianglan Lu and Shin, {Eun Sim} and Kern, {William F.} and Mulvihill, {John J.} and Shibo Li",

note = "Funding Information: Authors express special thanks to Mallory Martin for her technical support. S Li and JJ Mulvihill were supported in part by the grant CA115320 to the University of Oklahoma from the National Cancer Institute, National Institute of Health.",

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AU - Lee, Jiyun

AU - Lu, Xianglan

AU - Shin, Eun Sim

AU - Kern, William F.

AU - Mulvihill, John J.

AU - Li, Shibo

N1 - Funding Information: Authors express special thanks to Mallory Martin for her technical support. S Li and JJ Mulvihill were supported in part by the grant CA115320 to the University of Oklahoma from the National Cancer Institute, National Institute of Health.

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AB - No chromosomal rearrangements have been identified as specifically associated with minimally differentiated acute myeloid leukemia (AML-M0). Several research groups studied the cytogenetic features of AML-M0 and found that as much as 81% of patients with AML-M0 had chromosomal rearrangements; primarily -5/5q- and/or -7/7q- deletions or translocations involving 12p. A patient, who was diagnosed with AML-M0 eighteen months ago, was referred for cytogenetic evaluation for possible AML relapse. A subtle, cryptic t(5;9)(q35.3;q34.3), plus a deletion of the RB1 gene were detected in 18 out of 20 cells analyzed by FISH utilizing the TelVysion® assay kit. To rule out the possibility that these chromosomal changes were related to the relapse of AML in this case, we repeated the same FISH test on the specimen at initial diagnosis before any treatment. The same abnormalities were found. To our knowledge, this is the first case reported with subtelomeric t(5;9)(q35.3;q34.3) and the deletion of the RB1 gene in a patient with AML-M0. Whether the t(5;9) combined with the deletion of the RB1 gene plays an important role in the development of AML-M0 warrants further investigation.

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A novel subtelomeric translocation t(5;9) and a deletion of the RB1 gene in a patient with acute myeloid leukemia (AML-M0)

Abstract

Bibliographical note

ASJC Scopus subject areas

UN SDGs

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