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Chinese Journal of Medical Genetics ; (6): 112-115, 2019.
Artículo en Chino | WPRIM | ID: wpr-775801

RESUMEN

OBJECTIVE@#To explore the clinical and laboratory characteristics of 5 patients with myeloid leukemia and t(12;22)(p13;q12).@*METHODS@#Bone marrow cells were cultured for 24 h and analyzed by standard R-banding. Rearrangement of the MN1 gene was detected by fluorescence in situ hybridization (FISH) using dual color break-apart MN1 probes. MN1-ETV6 and ETV6-MN1 fusion genes were detected by reverse transcription polymerase chain reaction (RT-PCR). And the products were subjected to direct sequencing.@*RESULTS@#Among the 5 patients, 2 had AML-M0, 2 had AML-M4, and 1 had CMML at the initial diagnosis. t(12;22)(p13;q12) was the primary abnormality among all patients. Rearrangements of MN1 gene were detected by FISH in all patients. MN1-ETV6 and ETV6-MN1 fusion genes were detected respectively in 4 and 3 patients.@*CONCLUSION@#t(12;22)(p13;q12) is a rare but recurrent chromosomal abnormality in myeloid leukemia, and is related to poor prognosis. allo-SCT is valuable for patients with t(12;22)(p13;q12).


Asunto(s)
Humanos , Bandeo Cromosómico , Cromosomas Humanos Par 12 , Cromosomas Humanos Par 22 , Citogenética , Hibridación Fluorescente in Situ , Leucemia Mieloide , Genética , Proteínas de Fusión Oncogénica , Translocación Genética
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