Journal of Diagnostics Concepts & Practice ›› 2023, Vol. 22 ›› Issue (05): 472-479.doi: 10.16150/j.1671-2870.2023.05.009
• Original articles • Previous Articles Next Articles
ZHANG Jiao, LÜ Jiajia, LU Wenli, ZHANG Lidan(), LI Wei
Received:
2022-01-24
Online:
2023-10-25
Published:
2024-03-15
CLC Number:
ZHANG Jiao, LÜ Jiajia, LU Wenli, ZHANG Lidan, LI Wei. Pediatric chronic myeloid leukemia with a BCR- FIBCD1-ABL1 fusion transcript: a case report and literature review[J]. Journal of Diagnostics Concepts & Practice, 2023, 22(05): 472-479.
Figure 1
Bone marrow FISH detection In figure 1A, a total of 200 cells were analyzed with bone marrow cell FISH detection, and BCR-ABL1 fusion gene positive cells accounted for 30%. Figure 1B showed that 200 cells were analyzed after half a year of imatinib treatment, and no BCR-ABL1 fusion gene was found.
Figure 3A
Nested PCR detection of peripheral blood found the type of BCR (e8) - FIBCD1 (e5) - ABL1 (a2) fusion gene, showing the exon 5 fragment of FIBCD1 was inserted into the e8a2 fusion gene; 3B: gel electrophoresis analysis showed that the molecular weight of BCR (e8) - FIBCD1 (e5) - ABL1 (a2) fusion gene was about 1200 000
Table 1
Clinical and genotypic characteristics of patients with e8a2 BCL-ABL1 fusion gene positive chronic myeloid leukemia
Case | Age | Sex | Presentation | Genotype | Therapy | Follow-up(month) | Prognosis |
---|---|---|---|---|---|---|---|
1[ | 51 | Male | hepatomegaly thrombocytosis | e8a2 | hydroxyurea+αlpha interferon | 12 | PHR |
2[ | 40 | Female | splenomegaly thrombocytosis | e8-ABLint1a- a2 | imatinib | 65 | resistant |
3[ | 46 | Male | leukocytosis Splenomegaly | e8-ABLint1a- a2 | imatinib | 3 | MMR |
4[ | 25 | Male | anorexia nausea | e8-BCRint8 -a2 | dasatinib | 3 | EMR |
5[ | 51 | Female | abdominal pain | e8-MAST2e2 -a2 | imatinib | 16 | MMR |
6[ | 40 | Male | leukocytosis | e8-ABLint1b -a2 | imatinib | 33 | MMR |
7[ | 35 | Male | leukocytosis | e8-ABLint1b -a2 | imatinib | 30 | MMR |
8[ | 47 | Male | leukocytosis | e8-ABLint1b -a2 | imatinib | 39 | MMR |
9-13[ | -- | -- | -- | e8-ABLint1b -a2 | imatinib | -- | MMR |
14[ | -- | -- | -- | e8-DRG1e4 -a2 | imatinib | -- | MMR |
15[ | -- | -- | -- | e8-ABLint1a- a2 | imatinib | -- | MMR |
16[ | 43 | Male | splenomegaly thrombopenia | e8-BCRint8 -a2 | imatinib | 12 | MMR |
17[ | 55 | Male | acceleration phase | e8-ABLint1b -a2 | αlpha interferon | 24 | death |
18[ | 49 | Male | fatigue、facial and palpebral conjunctiva congestion | e8a2withTP53、CDH10 mutation | dasatinib | 6 | MMR |
19[ | 67 | Male | -- | e8-PRDM12e4-a2 | nilotinib / imatinib | 82 | DMR |
20[ | 58 | Female | -- | e8-SPECC1Le3-a2 | imatinib | 66 | MMR |
21[ | 69 | Female | leukocytosis | e8-ABLint1b- a2 | hydroxyurea | 48 | no progression |
22[ | 25 | Male | anorexia nausea | e8a2 | dasatinib | 6 | MMR |
23[ | 34 | Male | lymphadenopathy splenomegaly leukocytosis | e8a2 | imatinib | 2 | extramedullary blast crisis |
24[ | 70 | Male | NA | e8a2 | NA | NA | NA |
25[ | 25 | Female | NA | e8a2 | NA | NA | NA |
26[ | 74 | Male | NA | e8-ABLint1b-a2 | nilotinib | 12 | MMR |
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