Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia
<i>ETV6-ABL1</i> gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months pos...
| Main Authors: | , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-06-01
|
| Series: | Current Oncology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1718-7729/30/7/444 |
| _version_ | 1797589676119293952 |
|---|---|
| author | Samuele Renzi Fatimah Algawahmed Scott Davidson Karin P. S. Langenberg Fabio Fuligni Salah Ali Nathaniel Anderson Ledia Brunga Jack Bartram Mohamed Abdelhaleem Ahmed Naqvi Kassa Beimnet Andre Schuh Anne Tierens David Malkin Adam Shlien Mary Shago Anita Villani |
| author_facet | Samuele Renzi Fatimah Algawahmed Scott Davidson Karin P. S. Langenberg Fabio Fuligni Salah Ali Nathaniel Anderson Ledia Brunga Jack Bartram Mohamed Abdelhaleem Ahmed Naqvi Kassa Beimnet Andre Schuh Anne Tierens David Malkin Adam Shlien Mary Shago Anita Villani |
| author_sort | Samuele Renzi |
| collection | DOAJ |
| description | <i>ETV6-ABL1</i> gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an <i>ETV6-ABL1</i> fusion transcript, with an intact, in-frame <i>ABL</i> tyrosine–kinase domain. Of note, secondary <i>ETV6-ABL1</i>-rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the <i>ETV6-ABL1</i> fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations. |
| first_indexed | 2024-03-11T01:10:56Z |
| format | Article |
| id | doaj.art-a592fb16ae0b494781fe3064b7d6424d |
| institution | Directory Open Access Journal |
| issn | 1198-0052 1718-7729 |
| language | English |
| last_indexed | 2024-03-11T01:10:56Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Oncology |
| spelling | doaj.art-a592fb16ae0b494781fe3064b7d6424d2023-11-18T18:55:16ZengMDPI AGCurrent Oncology1198-00521718-77292023-06-013075946595210.3390/curroncol30070444Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt LeukemiaSamuele Renzi0Fatimah Algawahmed1Scott Davidson2Karin P. S. Langenberg3Fabio Fuligni4Salah Ali5Nathaniel Anderson6Ledia Brunga7Jack Bartram8Mohamed Abdelhaleem9Ahmed Naqvi10Kassa Beimnet11Andre Schuh12Anne Tierens13David Malkin14Adam Shlien15Mary Shago16Anita Villani17Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, CanadaLaboratory Medicine Program, University Health Network, Toronto, ON M5G 2M9, CanadaProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaPrincess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The NetherlandsProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaDepartment of Pediatric Haematology and Bone Marrow Transplant, Leeds Teaching Hospitals, Leeds LS9 7TF, UKProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaDepartment of Hematology, Great Ormond Street Hospital, London WC1N 3JH, UKDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, CanadaDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaDepartment of Haematology, Princess Margaret Hospital, Toronto, ON M5G 2C1, CanadaLaboratory Medicine Program, University Health Network, Toronto, ON M5G 2M9, CanadaDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, CanadaProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 0A4, CanadaDivision of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON M4B 1B3, Canada<i>ETV6-ABL1</i> gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an <i>ETV6-ABL1</i> fusion transcript, with an intact, in-frame <i>ABL</i> tyrosine–kinase domain. Of note, secondary <i>ETV6-ABL1</i>-rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the <i>ETV6-ABL1</i> fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations.https://www.mdpi.com/1718-7729/30/7/444pediatric malignanciesoncologymyeloproliferative syndrome |
| spellingShingle | Samuele Renzi Fatimah Algawahmed Scott Davidson Karin P. S. Langenberg Fabio Fuligni Salah Ali Nathaniel Anderson Ledia Brunga Jack Bartram Mohamed Abdelhaleem Ahmed Naqvi Kassa Beimnet Andre Schuh Anne Tierens David Malkin Adam Shlien Mary Shago Anita Villani Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia Current Oncology pediatric malignancies oncology myeloproliferative syndrome |
| title | Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia |
| title_full | Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia |
| title_fullStr | Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia |
| title_full_unstemmed | Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia |
| title_short | Myeloproliferative Neoplasm Driven by <i>ETV6-ABL1</i> in an Adolescent with Recent History of Burkitt Leukemia |
| title_sort | myeloproliferative neoplasm driven by i etv6 abl1 i in an adolescent with recent history of burkitt leukemia |
| topic | pediatric malignancies oncology myeloproliferative syndrome |
| url | https://www.mdpi.com/1718-7729/30/7/444 |
| work_keys_str_mv | AT samuelerenzi myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT fatimahalgawahmed myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT scottdavidson myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT karinpslangenberg myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT fabiofuligni myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT salahali myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT nathanielanderson myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT lediabrunga myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT jackbartram myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT mohamedabdelhaleem myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT ahmednaqvi myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT kassabeimnet myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT andreschuh myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT annetierens myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT davidmalkin myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT adamshlien myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT maryshago myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia AT anitavillani myeloproliferativeneoplasmdrivenbyietv6abl1iinanadolescentwithrecenthistoryofburkittleukemia |