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ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia

ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia
ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia
Dual-color interphase fluorescence in situ hybridization (FISH) with ETV6 and AML1 probes was used for the first time on a series of 159 adult patients with acute lymphoblastic leukemia (ALL), for detection of the t(12;21)(p13;q22) translocation. Seven patients (4.4%) were found, with 50-100% of positive cells, of whom one of two tested, proved negative for the fusion product by RT-PCR. Two of them, aged 43 and 50 years, are the oldest patients so far confirmed to have the translocation. Three who relapsed at 10, 11 and 24 months, suggest that adults may not enjoy the good short-term prognosis reported for t(12;21)-positive children. Thirty-one-negative cases had signal numbers differing from the two expected for each gene. In 15 cases these results were consistent with the karyotype. In nine cases with uninformative cytogenetics, the numbers were consistent with those for centromeres and indicated a hidden aneuploidy. Loss of ETV6 genes in two cases and AML1 amplification in three others were not suspected from the cytogenetics. In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases.
0887-6924
669-674
Jabber Al-Obaidi, M.S.
f0f0bd63-601f-464e-8648-4699459f424c
Martineau, M.
812d24f4-7585-4467-892b-0acf3f429d3e
Bennett, C.F.
4a620fd5-d7ce-4778-9b94-4e89974c77f1
Franklin, I.M.
1f9f93a4-85a2-45cb-8538-54b591ad0dc8
Goldstone, A.H.
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Harewood, L.
7a15f734-dd2a-4258-aa68-cb2f85ae6482
Jalali, G.R.
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Prentice, H.G.
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Richards, S.M.
f332bcb7-385f-42df-84a1-b98a1e4b4c1d
Roberts, K.
b8b09bab-b14d-4d97-92d6-521508670132
Harrison, C.J.
9c9f6b47-8bfc-49dd-b156-74539b170291
Jabber Al-Obaidi, M.S.
f0f0bd63-601f-464e-8648-4699459f424c
Martineau, M.
812d24f4-7585-4467-892b-0acf3f429d3e
Bennett, C.F.
4a620fd5-d7ce-4778-9b94-4e89974c77f1
Franklin, I.M.
1f9f93a4-85a2-45cb-8538-54b591ad0dc8
Goldstone, A.H.
8ce52bfc-d857-4592-97a3-79525672b39d
Harewood, L.
7a15f734-dd2a-4258-aa68-cb2f85ae6482
Jalali, G.R.
2f888ad4-2751-49ef-ab7f-828a4b508563
Prentice, H.G.
9f2b983d-671a-44bb-9820-08c3b7f64d69
Richards, S.M.
f332bcb7-385f-42df-84a1-b98a1e4b4c1d
Roberts, K.
b8b09bab-b14d-4d97-92d6-521508670132
Harrison, C.J.
9c9f6b47-8bfc-49dd-b156-74539b170291

Jabber Al-Obaidi, M.S., Martineau, M., Bennett, C.F., Franklin, I.M., Goldstone, A.H., Harewood, L., Jalali, G.R., Prentice, H.G., Richards, S.M., Roberts, K. and Harrison, C.J. (2002) ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia. Leukemia, 16 (4), 669-674. (doi:10.1038/sj/leu/2402435).

Record type: Article

Abstract

Dual-color interphase fluorescence in situ hybridization (FISH) with ETV6 and AML1 probes was used for the first time on a series of 159 adult patients with acute lymphoblastic leukemia (ALL), for detection of the t(12;21)(p13;q22) translocation. Seven patients (4.4%) were found, with 50-100% of positive cells, of whom one of two tested, proved negative for the fusion product by RT-PCR. Two of them, aged 43 and 50 years, are the oldest patients so far confirmed to have the translocation. Three who relapsed at 10, 11 and 24 months, suggest that adults may not enjoy the good short-term prognosis reported for t(12;21)-positive children. Thirty-one-negative cases had signal numbers differing from the two expected for each gene. In 15 cases these results were consistent with the karyotype. In nine cases with uninformative cytogenetics, the numbers were consistent with those for centromeres and indicated a hidden aneuploidy. Loss of ETV6 genes in two cases and AML1 amplification in three others were not suspected from the cytogenetics. In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases.

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Published date: 2002

Identifiers

Local EPrints ID: 26395
URI: http://eprints.soton.ac.uk/id/eprint/26395
ISSN: 0887-6924
PURE UUID: 57ef564b-76ff-44ae-845d-511660473e04

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Date deposited: 12 Apr 2006
Last modified: 10 Jan 2020 17:32

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Contributors

Author: M.S. Jabber Al-Obaidi
Author: M. Martineau
Author: C.F. Bennett
Author: I.M. Franklin
Author: A.H. Goldstone
Author: L. Harewood
Author: G.R. Jalali
Author: H.G. Prentice
Author: S.M. Richards
Author: K. Roberts
Author: C.J. Harrison

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