RESUMEN
Chromosome 1 band p32 (1p32) aberrations are common in T lymphoblastic leukemia/lymphoma (T-ALL/LBL). Two types of 1p32 aberrations include translocations with different partners and submicroscopic interstitial deletion. Both aberrations are known to result in TAL1 gene deregulation. The t(1;5)(p32;q31) is a rare translocation of 1p32 in T-ALL. We now present the second case of t(1;5)(p32;q31) in T-ALL, which was present as a primary cytogenetic abnormality, with a review of the relevant literature. Interestingly, neither the translocation of the TAL1 gene nor aberrant expression of TAL1 protein was detected by fluorescent in situ hybridization (FISH) and by immunohistochemical staining in this case.
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Médula Ósea/patología , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 5 , Cariotipificación , Leucemia-Linfoma Linfoblástico de Células T Precursoras/diagnóstico , Proteínas Proto-Oncogénicas/genética , Tomografía Computarizada por Rayos X , Translocación GenéticaRESUMEN
Objective To deepen the understanding of chronic eosinophilic leukemia (CEL).Methods The course of diagnosis and treatment in a case of FIP1L1/PDGFRα fusion gene negative CEL was reported. Flow cytometry was used to analyze the immunophenotype of the cells in peripheral blood and pleural fluid. Karyotype was analyzed with G-banding. The expression of FIP1L1/PDGFRα fusion gene was detected by RT-PCR technique. Routine pathological examination of the tissues from bone marrow, lung and spleen were performed. Result A sixteen-year-old girl had severe anemia, fever, splenomegaly,thrombocytopenia and dominant hypereosinophilia lasting for 22 months. Trephine biopsy showed a hypercellular marrow with eosinophilic proliferation and moderate reticular fibrosis. Eosinophilic infiltration was found in lung and spleen and embolism was also found in spleen. She had a clonal chromosomal abnormality t(5;12)(q31;p13). The expression of FIP1L1/PDGFRα was negative. An abnormal clone of T cells expressing CD3-,CD4-,CD8- was found in peripheral blood and pleural fluid, in which the cional T cell accounted for 5.43% and 1.66% of the total lymphocytes respectively. The patient was refractory to treatment with hydroxyurea, prednisone and interferon alpha. She had poor response to a combination of therapy with low dose cytosine arabinoside, mitoxantrone, vincristine, cyclophosphamide, methotrexate and prednisone. She did not respond to imatinib and died of multiple organ failure. Conclusion The present case fulfilled the WHO diagnostic criteria of FIP1L1/PDGFRα(-) CEL which did not respond to routine treatment and imatinib. Allogenic stem cell transplantation should be considered as early as possible in this case. It is noteworthy that clonal CD3-,CD4-,CD8- T-cell abnormality is related to the pathogenesis of CEL.
RESUMEN
Hypereosinophilia has been associated with a variety of underlying disorders such as parasitic, fungal and mycobacterial infections, allergic disorders, collagen vascular diseases, or hypereosinophilic syndrome (HES). The association of acute lymphoblastic leukemia (ALL) and symptomatic eosinophilia is rare and only a few cases have been reported. HES probably occurs in less than 1% of all patients with ALL. The chromosomal translocation t (5; 14) (q31; q32) was cloned at the molecular level in ALL with eosinophilia. This translocation joined the immunoglobulin heavy chain region to the promoter region of the interleukin-3 (IL-3) gene in opposite transcriptional orientation. The IL-3 gene translocated with the immunoglobulin heavy chain gene may play a central role in the pathogenesis of this leukemia and the associated eosinophilia. We describe a 8-year-old boy who presented with hypereosinophilia and concurrent ALL with t (5; 14).