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dic(7;9)(p11.1;p11.1) and del(7)(q36) as a Primary Abnormality in Childhood B-cell Precursor ALL: A Case Report
Dhanlaxmi Shetty1, Elizabeth Talker1, Kruti Chaubal1
1Department of Cancer Cytogenetics, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, India.
Insights
This study details a pediatric B-cell acute lymphoblastic leukemia case with a rare dic(7;9) chromosomal abnormality. Despite poor prognostic indicators, the patient achieved a positive response to standard induction therapy.
Area of Science:
- Hematology
- Genetics
- Pediatric Oncology
Background:
- B-cell acute lymphoblastic leukemia (B-ALL) involves abnormal B-lymphoblast proliferation.
- FAB classification (L1/L2) describes B-ALL cell morphology.
- Genetic classification of B-ALL relies on molecular cytogenetic and molecular testing.
Purpose of the Study:
- To report a pediatric B-ALL case with a primary dic(7;9)(p11.1;p11.1) and CUL1 deletion (7q36).
- To highlight the patient's response to standard risk induction therapy despite poor prognostic markers.
Main Methods:
- Conventional karyotyping and fluorescence in situ hybridization (FISH) were used for genetic abnormality detection.
- Minimal residual disease monitoring assessed treatment response.
Main Results:
- The pediatric B-ALL case presented with dic(7;9)(p11.1;p11.1) and CUL1 deletion (7q36).
- Both 7p and 9p deletions are typically associated with poor prognosis.
- The patient exhibited a favorable response to standard risk induction therapy.
Conclusions:
- This case demonstrates that pediatric B-ALL with dic(7;9) and CUL1 deletion can respond well to standard treatment.
- Genetic abnormalities, even those linked to poor prognosis, require careful correlation with clinical response.
Objectives:
B-cell acute lymphoblastic leukemia is the clonal proliferation of B-lymphoblasts, primarily in the blood and bone marrow. The morphology of these cells is largely of L1 or L2 type according to French-American-British (FAB) classification. Molecular cytogenetic testing remains the gold standard technique for genetic classification of ALL along with molecular tests. Here we describe a case of pediatric B-ALL with dic(7;9)(p11.1;p11.1) and deletion of CUL1 (7q36) as a primary abnormality. Although both 7p and 9p deletions are associated with poor prognosis, the patient responded well to standard risk induction therapy. The abnormalities were identified by conventional karyotype and fluorescence in situ hybridization. Response to treatment was assessed by monitoring minimal residual disease.
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