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Myeloproliferative neoplasm with ETV6-ABL1: a case report and literature review

Myeloproliferative neoplasm with ETV6-ABL1: a case report and literature review
Myeloproliferative neoplasm with ETV6-ABL1: a case report and literature review
ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia (CML), acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and chronic myeloproliferative neoplasm (cMPN). Here we report on a 46-year-old female who presented with Philadelphia negative CML, positive for the ETV6-ABL1 fusion. Whole genome screening carried out with oligonucleotide arrays showed a subtle loss at 12p13 and cryptic imbalances within the 9q34.3 region in a highly unstable genome. FISH mapping with custom BAC probes identified two breakpoints 5 Mb apart within the 9q34 region, together with a break at 12p13. While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe's role as the primary diagnostic FISH test for this chimeric oncogene.In addition, we confirm the association of the ETV6-ABL1 fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2nd generation tyrosine kinase inhibitor (TKI) nilotinib. In summary, we highlight the value of ETV6 FISH as a diagnostic test and the therapy resistance of ETV6-ABL1 positive disorders to imatinib.
ETV6-ABL1, atypical CML, nilotinib, resistance to imatinib
1755-8166
Gancheva, Katya
d6136a84-87f8-47b1-857a-7c14f2fdab64
Virchis, Andres
62c4533d-9363-402f-97ed-9d69101d5096
Howard-Reeves, Julie
e9de6f22-6750-454b-aaa0-49121d3edcc7
Cross, Nick C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Brazma, Diana
d847fe3c-2426-4253-af1e-3510edf20db0
Grace, Colin
ec6394df-52cd-4fd0-82d5-d952bf31f535
Kotzampaltiris, Paul
4144c258-7ac0-4e14-88f0-a762e87de279
Partheniou, Fedra
4304b406-9072-48f6-b051-b7c539306dac
Nacheva, Elisabeth
e7d54b5e-27bb-419d-a8bd-37b176a1be3a
Gancheva, Katya
d6136a84-87f8-47b1-857a-7c14f2fdab64
Virchis, Andres
62c4533d-9363-402f-97ed-9d69101d5096
Howard-Reeves, Julie
e9de6f22-6750-454b-aaa0-49121d3edcc7
Cross, Nick C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Brazma, Diana
d847fe3c-2426-4253-af1e-3510edf20db0
Grace, Colin
ec6394df-52cd-4fd0-82d5-d952bf31f535
Kotzampaltiris, Paul
4144c258-7ac0-4e14-88f0-a762e87de279
Partheniou, Fedra
4304b406-9072-48f6-b051-b7c539306dac
Nacheva, Elisabeth
e7d54b5e-27bb-419d-a8bd-37b176a1be3a

Gancheva, Katya, Virchis, Andres, Howard-Reeves, Julie, Cross, Nick C.P., Brazma, Diana, Grace, Colin, Kotzampaltiris, Paul, Partheniou, Fedra and Nacheva, Elisabeth (2013) Myeloproliferative neoplasm with ETV6-ABL1: a case report and literature review. Molecular Cytogenetics, 6 (39). (doi:10.1186/1755-8166-6-39). (PMID:24053143)

Record type: Article

Abstract

ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia (CML), acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and chronic myeloproliferative neoplasm (cMPN). Here we report on a 46-year-old female who presented with Philadelphia negative CML, positive for the ETV6-ABL1 fusion. Whole genome screening carried out with oligonucleotide arrays showed a subtle loss at 12p13 and cryptic imbalances within the 9q34.3 region in a highly unstable genome. FISH mapping with custom BAC probes identified two breakpoints 5 Mb apart within the 9q34 region, together with a break at 12p13. While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe's role as the primary diagnostic FISH test for this chimeric oncogene.In addition, we confirm the association of the ETV6-ABL1 fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2nd generation tyrosine kinase inhibitor (TKI) nilotinib. In summary, we highlight the value of ETV6 FISH as a diagnostic test and the therapy resistance of ETV6-ABL1 positive disorders to imatinib.

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e-pub ahead of print date: 20 September 2013
Keywords: ETV6-ABL1, atypical CML, nilotinib, resistance to imatinib
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 357431
URI: http://eprints.soton.ac.uk/id/eprint/357431
ISSN: 1755-8166
PURE UUID: d02fc7af-3c36-40d8-8f20-fff4349ec2db
ORCID for Nick C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 27 Sep 2013 09:33
Last modified: 23 Jul 2022 01:49

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Contributors

Author: Katya Gancheva
Author: Andres Virchis
Author: Julie Howard-Reeves
Author: Nick C.P. Cross ORCID iD
Author: Diana Brazma
Author: Colin Grace
Author: Paul Kotzampaltiris
Author: Fedra Partheniou
Author: Elisabeth Nacheva

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