Clinical and molecular cytogenetic studies of a case of B-lineage acute lymphoblastic leukemia with t(14;14)(q11;q32) / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 137-140, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-295521
ABSTRACT
<p><b>OBJECTIVE</b>To report on a rare case of B-lineage acute lymphoblastic leukemia (B-ALL) with t(14;14) (q11;q32) and clarify its clinical and molecular cytogenetic features.</p><p><b>METHODS</b>Clinical data of a B-ALL patient with t(14;14) (q11;q32) were analyzed. After 24 hour of unstimulated culturing, chromosome specimens of bone marrow cells were prepared with regular method, and R-banding was used for karyotype analysis. Fluorescence in situ hybridization (FISH) analysis was performed on fixed bone marrow cells using IGH dual-color break-apart probe, CEBPE dual-color break-apart probe, whole chromosome paint (WCP) probe for chromosome 4, and Chromoprobe Multiprobe-ALL System probe.</p><p><b>RESULTS</b>The 39-year-old female was diagnosed with B-ALL based on morphologic and immunophenotypic analyses. Conventional cytogenetic analysis showed a karyotype of 47, XX, +4, t(14;14) (q11;q32) [20], which was confirmed by FISH analysis. FISH using IGH-dual-color break-apart probe confirmed involvement of IGH gene in t(14;14) (q11;q32), and FISH using CEBPE dual-color break-apart probe indicated that CEBPE is the partner gene involved in t(14;14) (q11; q32). The patient achieved complete remission (CR) after a round of combined chemotherapy. At the time of follow-up, she had remained CR for more than 6 months.</p><p><b>CONCLUSION</b>t(14;14) (q11;q32) simultaneously involving IGH and CEBPE genes in B-ALL is a rare but recurrent genetic abnormality that may identify a new subgroup of B-ALL. In B-ALL patients, t(14; 14) (q11; q32) involving IGH/CEBPE translocation may indicate a better prognosis.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Chromosomes, Human, Pair 14
/
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
/
Follow-Up Studies
/
Genetic Predisposition to Disease
/
Cytogenetics
/
Karyotype
/
Genetics
/
Methods
Type of study:
Observational study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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