Clinical and laboratory investigation of pericentric inv(9)(p22q34) with the der(9)t(9;22)(q34;q11) in Ph-positive leukemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 157-160, 2013.
Article
en Zh
| WPRIM
| ID: wpr-237292
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate clinical and molecule genetics features of four Ph-positive leukemia patients characterized by pericentric inv(9)(p22q34) with the der(9)t(9;22)(q34;q11).</p><p><b>METHODS</b>Cytogenetic analysis was carried out on bone marrow directly or after short-period culture. R banding was used for karyotype analysis. BCR/ABL fusion gene was detected with interphase fluorescence in situ hybridization (FISH), and chromosome painting was carried out using specific probes. RT-PCR was used to detect BCR/ABL chimeric transcripts.</p><p><b>RESULTS</b>One patient with acute myeloid leukemia (AML) presented three clones, which included one with a normal karyotype, one with t(9;22)(q34;q11), and one with inv(9)(p22q34) involving the der(9)t(9;22) and additional t(8;12)(q12;p11). The inv(9)(p22q34) has always co-occurred with der(9)t(9;22)(q34;q11) accompanied by der(22)t(9;22)(q34;q11) in all metaphases from the three patients with chronic myeloid leukemia (CML). B3a2 transcript was detected in all patients by RT-PCR. Inv(9)(p22q34) was found in both CML and AML, and was associated with poor prognosis.</p><p><b>CONCLUSION</b>Inv(9)(p22q34) is a novel, rare, but recurrent secondary chromosomal abnormality for Ph-positive leukemia. Leukemia with der(9)t(9;22) and inv(9)(p22q34) has unique clinical and laboratory characteristics.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Translocación Genética
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Cromosomas Humanos Par 9
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Cromosomas Humanos Par 22
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Leucemia Mielógena Crónica BCR-ABL Positiva
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Leucemia Mieloide Aguda
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Genética
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Inversión Cromosómica
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Article