Freitas Ana Carolina, Maia Tiago, Desterro Joana, Pierdomenico Francesca, Nunes Albertina, Ferreira Isabelina, Cabeçadas José, Gomes da Silva Maria
Department of Hematology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, Portugal.
Department of Pathology, Portuguese Institute of Oncology Lisbon, 1099-023 Lisbon, Portugal.
Hematol Rep. 2023 Mar 14;15(1):212-219. doi: 10.3390/hematolrep15010022.
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 () and ETS variant 6 () 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.
骨髓增生异常/骨髓增殖性肿瘤（MDS/MPN）并非单一疾病，而是一组异质性实体，越来越多地根据复发性基因异常进行亚分类。涉及脑膜瘤1（）和ETS变异体6（）基因的染色体易位极为罕见，但在髓系肿瘤中较为常见。我们描述了一例患有伴有中性粒细胞增多的骨髓增生异常/骨髓增殖性肿瘤患者，该患者发生了髓外T淋巴细胞母细胞危象，其唯一的细胞遗传学异常为t(12;22)(p13;q12)易位。该病例与伴有嗜酸性粒细胞增多的髓系/淋巴系肿瘤具有若干临床和分子特征。该患者的治疗具有挑战性，因为该疾病对化疗高度耐药，异基因干细胞移植是唯一的治愈选择。这种临床表现尚未与这些基因改变相关报道，支持造血肿瘤起源于早期未分化前体细胞的概念。此外，它强调了分子特征在这些实体的分类和预后分层中的重要性。
