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Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

View Article: PubMed Central - PubMed

ABSTRACT

Background: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses.

Methods: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands).

Results: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively.

Conclusions: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.

No MeSH data available.


Related in: MedlinePlus

Clinical course of patient C. The x-axis in the graph indicates the time (months) after diagnosis. The y-axis indicates the percent of blast count in bone marrow (blue line) and percent recipient chimerism as measured by short tandem repeat analysis (red line). RUNX1 signal amplification by FISH analysis was detected at 13 days after diagnosis, first relapse, and second relapse.
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Figure 4: Clinical course of patient C. The x-axis in the graph indicates the time (months) after diagnosis. The y-axis indicates the percent of blast count in bone marrow (blue line) and percent recipient chimerism as measured by short tandem repeat analysis (red line). RUNX1 signal amplification by FISH analysis was detected at 13 days after diagnosis, first relapse, and second relapse.

Mentions: A 9-yr-old boy, the patient C, was admitted because of general weakness for three weeks. At initial diagnosis, he showed the complex karyotype 44,XY,add(4)(p15.2),−5,i(7)(p10),−21, −22,+mar[16]/45,idem,+7[4]. At follow-up one week after the initiation of high-risk chemotherapy comprising the drugs vincristine, prednisolone, and L-asparaginase, a bone marrow examination revealed 76.9% residual blasts in the observed marrow cells and the FISH analysis revealed a 34.8% RUNX1 signal amplification of interphase cells. Chemotherapy with vincristine was maintained for three years after diagnosis; however, a bone marrow examination showed relapse of B-ALL, and the amplification of the RUNX1 signal was also observed. High-risk chemotherapy with vincristine was reinitiated to treat the relapsed B-ALL and bone marrow transplantation from a sibling donor was performed after conditioning chemotherapy. The patient remained in complete remission for eight months; however, a follow-up bone marrow examination revealed a second relapse of B-ALL. After completion of the clofarabine-based reinduction therapy, a complete hematological remission was achieved. The clinical course of the patient is summarized in Fig. 4.


Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
Clinical course of patient C. The x-axis in the graph indicates the time (months) after diagnosis. The y-axis indicates the percent of blast count in bone marrow (blue line) and percent recipient chimerism as measured by short tandem repeat analysis (red line). RUNX1 signal amplification by FISH analysis was detected at 13 days after diagnosis, first relapse, and second relapse.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4940492&req=5

Figure 4: Clinical course of patient C. The x-axis in the graph indicates the time (months) after diagnosis. The y-axis indicates the percent of blast count in bone marrow (blue line) and percent recipient chimerism as measured by short tandem repeat analysis (red line). RUNX1 signal amplification by FISH analysis was detected at 13 days after diagnosis, first relapse, and second relapse.
Mentions: A 9-yr-old boy, the patient C, was admitted because of general weakness for three weeks. At initial diagnosis, he showed the complex karyotype 44,XY,add(4)(p15.2),−5,i(7)(p10),−21, −22,+mar[16]/45,idem,+7[4]. At follow-up one week after the initiation of high-risk chemotherapy comprising the drugs vincristine, prednisolone, and L-asparaginase, a bone marrow examination revealed 76.9% residual blasts in the observed marrow cells and the FISH analysis revealed a 34.8% RUNX1 signal amplification of interphase cells. Chemotherapy with vincristine was maintained for three years after diagnosis; however, a bone marrow examination showed relapse of B-ALL, and the amplification of the RUNX1 signal was also observed. High-risk chemotherapy with vincristine was reinitiated to treat the relapsed B-ALL and bone marrow transplantation from a sibling donor was performed after conditioning chemotherapy. The patient remained in complete remission for eight months; however, a follow-up bone marrow examination revealed a second relapse of B-ALL. After completion of the clofarabine-based reinduction therapy, a complete hematological remission was achieved. The clinical course of the patient is summarized in Fig. 4.

View Article: PubMed Central - PubMed

ABSTRACT

Background: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses.

Methods: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands).

Results: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively.

Conclusions: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.

No MeSH data available.


Related in: MedlinePlus