The University of Southampton
University of Southampton Institutional Repository

Complex chromosomal abnormalities in utero, 5 years before leukaemia

Complex chromosomal abnormalities in utero, 5 years before leukaemia
Complex chromosomal abnormalities in utero, 5 years before leukaemia
Prenatal acquisition of leukaemia-associated gene rearrangements is a well-established phenomenon. This is the first report of a complex cytogenetic clone, in association with an ETV6/AML1 fusion, developing in utero. Identical twin girls, aged 4 years, developed ETV6/AML1-positive acute lymphoblastic leukaemia (ALL) within 3 months of one another. Both demonstrated an identical four way, variant t(12;21). There was gain of an AML1 signal in twin 1 and loss of an ETV6 one in twin 2 at interphase. This unique case study demonstrates that ETV6/AML1 fusion and the associated complex chromosomal rearrangements occurred in utero. Clonal expansion of the abnormal cell in one twin was followed by metastasis to the other. There was a prolonged preleukaemic phase, which lasted well into childhood. The short time between the two diagnoses of ALL suggests a common precipitating event. The significance of the different secondary markers remains unclear.
acute lymphoblastic leukaemia, complex chromosomal rearrangements, twins, etv6/aml1, preleukaemia
0007-1048
307-312
Broadfield, Zoe J.
525b4648-7c88-488a-aefa-0018ac485eb4
Hain, Richard D.
13d028c9-a0e4-488f-bc37-36e9e78bbf09
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Reza Jalali, G.
f130f472-4220-421c-9a31-53e2ffece049
McKinley, Mark
6dceccda-45bd-4bcb-a7ab-0cbe2807f700
Michalova, Kyra
cb3f9859-72c1-4ab6-8429-399a5acbce60
Robinson, Hazel M.
c406aa02-ca17-4ba1-9aa4-24bab6415fc0
Zemanova, Zuzana
fb740b33-819e-4b4e-ba14-261e1ff61c8c
Martineau, Mary
6cc6f57f-7b57-4583-81eb-17dac737e35c
Broadfield, Zoe J.
525b4648-7c88-488a-aefa-0018ac485eb4
Hain, Richard D.
13d028c9-a0e4-488f-bc37-36e9e78bbf09
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Reza Jalali, G.
f130f472-4220-421c-9a31-53e2ffece049
McKinley, Mark
6dceccda-45bd-4bcb-a7ab-0cbe2807f700
Michalova, Kyra
cb3f9859-72c1-4ab6-8429-399a5acbce60
Robinson, Hazel M.
c406aa02-ca17-4ba1-9aa4-24bab6415fc0
Zemanova, Zuzana
fb740b33-819e-4b4e-ba14-261e1ff61c8c
Martineau, Mary
6cc6f57f-7b57-4583-81eb-17dac737e35c

Broadfield, Zoe J., Hain, Richard D., Harrison, Christine J., Reza Jalali, G., McKinley, Mark, Michalova, Kyra, Robinson, Hazel M., Zemanova, Zuzana and Martineau, Mary (2004) Complex chromosomal abnormalities in utero, 5 years before leukaemia. British Journal of Haematology, 126 (3), 307-312. (doi:10.1111/j.1365-2141.2004.05036.x).

Record type: Article

Abstract

Prenatal acquisition of leukaemia-associated gene rearrangements is a well-established phenomenon. This is the first report of a complex cytogenetic clone, in association with an ETV6/AML1 fusion, developing in utero. Identical twin girls, aged 4 years, developed ETV6/AML1-positive acute lymphoblastic leukaemia (ALL) within 3 months of one another. Both demonstrated an identical four way, variant t(12;21). There was gain of an AML1 signal in twin 1 and loss of an ETV6 one in twin 2 at interphase. This unique case study demonstrates that ETV6/AML1 fusion and the associated complex chromosomal rearrangements occurred in utero. Clonal expansion of the abnormal cell in one twin was followed by metastasis to the other. There was a prolonged preleukaemic phase, which lasted well into childhood. The short time between the two diagnoses of ALL suggests a common precipitating event. The significance of the different secondary markers remains unclear.

Full text not available from this repository.

More information

Published date: August 2004
Keywords: acute lymphoblastic leukaemia, complex chromosomal rearrangements, twins, etv6/aml1, preleukaemia

Identifiers

Local EPrints ID: 26224
URI: http://eprints.soton.ac.uk/id/eprint/26224
ISSN: 0007-1048
PURE UUID: 5b25dacd-ea7c-43e6-a24b-ec379c766479

Catalogue record

Date deposited: 21 Apr 2006
Last modified: 15 Jul 2019 19:14

Export record

Altmetrics

Contributors

Author: Zoe J. Broadfield
Author: Richard D. Hain
Author: Christine J. Harrison
Author: G. Reza Jalali
Author: Mark McKinley
Author: Kyra Michalova
Author: Hazel M. Robinson
Author: Zuzana Zemanova
Author: Mary Martineau

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×