Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are not a single disease, but rather a heterogenous group of entities which are increasingly subclassified according to recurrent genetic abnormalities. Chromosomal translocations involving meningioma 1 (<i>MN1</i>) and ETS variant 6...
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MDPI AG
2023-03-01
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| Series: | Hematology Reports |
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| Online Access: | https://www.mdpi.com/2038-8330/15/1/22 |
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| author | Ana Carolina Freitas Tiago Maia Joana Desterro Francesca Pierdomenico Albertina Nunes Isabelina Ferreira José Cabeçadas Maria Gomes da Silva |
| author_facet | Ana Carolina Freitas Tiago Maia Joana Desterro Francesca Pierdomenico Albertina Nunes Isabelina Ferreira José Cabeçadas Maria Gomes da Silva |
| author_sort | Ana Carolina Freitas |
| collection | DOAJ |
| description | Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are not a single disease, but rather a heterogenous group of entities which are increasingly subclassified according to recurrent genetic abnormalities. Chromosomal translocations involving meningioma 1 (<i>MN1</i>) and ETS variant 6 (<i>ETV6</i>) genes are extremely rare, but recurrent in myeloid neoplasms. We describe the case of a patient with a myelodysplastic/myeloproliferative neoplasm with neutrophilia, who developed an extramedullary T-lymphoblastic crisis with the t(12;22)(p13;q12) translocation as the only cytogenetic abnormality. This case shares several clinical and molecular features with myeloid/lymphoid neoplasms with eosinophilia. The treatment of this patient was challenging, as the disease proved to be highly refractory to chemotherapy, with allogenic stem cell transplantation as the only curative option. This clinical presentation has not been reported in association with these genetic alterations and supports the concept of a hematopoietic neoplasm originating in an early uncommitted precursor cell. Additionally, it stresses the importance of molecular characterization in the classification and prognostic stratification of these entities. |
| first_indexed | 2024-03-11T06:28:11Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2038-8330 |
| language | English |
| last_indexed | 2024-03-11T06:28:11Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Hematology Reports |
| spelling | doaj.art-88f00ab111be4926932753d62d05f78c2023-11-17T11:22:44ZengMDPI AGHematology Reports2038-83302023-03-0115121221910.3390/hematolrep15010022Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> TranslocationAna Carolina Freitas0Tiago Maia1Joana Desterro2Francesca Pierdomenico3Albertina Nunes4Isabelina Ferreira5José Cabeçadas6Maria Gomes da Silva7Department of Hematology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Pathology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Hematology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Hematology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Hematology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Bone Marrow Transplantation, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Pathology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalDepartment of Hematology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, PortugalMyelodysplastic/myeloproliferative neoplasms (MDS/MPN) are not a single disease, but rather a heterogenous group of entities which are increasingly subclassified according to recurrent genetic abnormalities. Chromosomal translocations involving meningioma 1 (<i>MN1</i>) and ETS variant 6 (<i>ETV6</i>) genes are extremely rare, but recurrent in myeloid neoplasms. We describe the case of a patient with a myelodysplastic/myeloproliferative neoplasm with neutrophilia, who developed an extramedullary T-lymphoblastic crisis with the t(12;22)(p13;q12) translocation as the only cytogenetic abnormality. This case shares several clinical and molecular features with myeloid/lymphoid neoplasms with eosinophilia. The treatment of this patient was challenging, as the disease proved to be highly refractory to chemotherapy, with allogenic stem cell transplantation as the only curative option. This clinical presentation has not been reported in association with these genetic alterations and supports the concept of a hematopoietic neoplasm originating in an early uncommitted precursor cell. Additionally, it stresses the importance of molecular characterization in the classification and prognostic stratification of these entities.https://www.mdpi.com/2038-8330/15/1/22myelodysplastic/myeloproliferative neoplasmT-lymphoblasts<i>MN1</i> gene<i>ETV6</i> genet(1222)(p13 |
| spellingShingle | Ana Carolina Freitas Tiago Maia Joana Desterro Francesca Pierdomenico Albertina Nunes Isabelina Ferreira José Cabeçadas Maria Gomes da Silva Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation Hematology Reports myelodysplastic/myeloproliferative neoplasm T-lymphoblasts <i>MN1</i> gene <i>ETV6</i> gene t(12 22)(p13 |
| title | Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation |
| title_full | Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation |
| title_fullStr | Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation |
| title_full_unstemmed | Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation |
| title_short | Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/<i>MN1::ETV6</i> Translocation |
| title_sort | extramedullary t lymphoblastic crisis in a myelodysplastic myeloproliferative neoplasm with a t 12 22 i mn1 etv6 i translocation |
| topic | myelodysplastic/myeloproliferative neoplasm T-lymphoblasts <i>MN1</i> gene <i>ETV6</i> gene t(12 22)(p13 |
| url | https://www.mdpi.com/2038-8330/15/1/22 |
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