Molecular cytogenetic characterization of five patients with myeloid leukemia and t(12;22)(p13;q12) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 112-115, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-775801
ABSTRACT
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).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Translocation, Genetic
/
Chromosomes, Human, Pair 12
/
Chromosomes, Human, Pair 22
/
Leukemia, Myeloid
/
Oncogene Proteins, Fusion
/
Chromosome Banding
/
In Situ Hybridization, Fluorescence
/
Cytogenetics
/
Genetics
Type of study:
Prognostic study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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