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Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 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 (MN1) and ETS variant 6 (ETV6) genes are e...

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Autores principales: Freitas, Ana Carolina, Maia, Tiago, Desterro, Joana, Pierdomenico, Francesca, Nunes, Albertina, Ferreira, Isabelina, Cabeçadas, José, Gomes da Silva, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048276/
https://www.ncbi.nlm.nih.gov/pubmed/36975735
http://dx.doi.org/10.3390/hematolrep15010022
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author Freitas, Ana Carolina
Maia, Tiago
Desterro, Joana
Pierdomenico, Francesca
Nunes, Albertina
Ferreira, Isabelina
Cabeçadas, José
Gomes da Silva, Maria
author_facet Freitas, Ana Carolina
Maia, Tiago
Desterro, Joana
Pierdomenico, Francesca
Nunes, Albertina
Ferreira, Isabelina
Cabeçadas, José
Gomes da Silva, Maria
author_sort Freitas, Ana Carolina
collection PubMed
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 (MN1) and ETS variant 6 (ETV6) 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.
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spelling pubmed-100482762023-03-29 Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation Freitas, Ana Carolina Maia, Tiago Desterro, Joana Pierdomenico, Francesca Nunes, Albertina Ferreira, Isabelina Cabeçadas, José Gomes da Silva, Maria Hematol Rep Case Report 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 (MN1) and ETS variant 6 (ETV6) 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. MDPI 2023-03-14 /pmc/articles/PMC10048276/ /pubmed/36975735 http://dx.doi.org/10.3390/hematolrep15010022 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Freitas, Ana Carolina
Maia, Tiago
Desterro, Joana
Pierdomenico, Francesca
Nunes, Albertina
Ferreira, Isabelina
Cabeçadas, José
Gomes da Silva, Maria
Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation
title Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation
title_full Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation
title_fullStr Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation
title_full_unstemmed Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation
title_short Extramedullary T-lymphoblastic Crisis in a Myelodysplastic/Myeloproliferative Neoplasm with a t(12;22)/MN1::ETV6 Translocation
title_sort extramedullary t-lymphoblastic crisis in a myelodysplastic/myeloproliferative neoplasm with a t(12;22)/mn1::etv6 translocation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048276/
https://www.ncbi.nlm.nih.gov/pubmed/36975735
http://dx.doi.org/10.3390/hematolrep15010022
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